Tooth DiseasesArthropathy, Neurogenic: Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)Hypotrichosis: Presence of less than the normal amount of hair. (Dorland, 27th ed)Tooth: One of a set of bone-like structures in the mouth used for biting and chewing.Anaplasma marginale: A species of gram-negative bacteria and causative agent of severe bovine ANAPLASMOSIS. It is the most pathogenic of the ANAPLASMA species.Anaplasmosis: A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA.Nail Diseases: Diseases of the nail plate and tissues surrounding it. The concept is limited to primates.Diabetic Foot: Common foot problems in persons with DIABETES MELLITUS, caused by any combination of factors such as DIABETIC NEUROPATHIES; PERIPHERAL VASCULAR DISEASES; and INFECTION. With the loss of sensation and poor circulation, injuries and infections often lead to severe foot ulceration, GANGRENE and AMPUTATION.History, 19th Century: Time period from 1801 through 1900 of the common era.Neurology: A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.Tarsal Bones: The seven bones which form the tarsus - namely, CALCANEUS; TALUS; cuboid, navicular, and the internal, middle, and external cuneiforms.Hysteria: Historical term for a chronic, but fluctuating, disorder beginning in early life and characterized by recurrent and multiple somatic complaints not apparently due to physical illness. This diagnosis is not used in contemporary practice.Diabetic Neuropathies: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)Foot Deformities, Acquired: Distortion or disfigurement of the foot, or a part of the foot, acquired through disease or injury after birth.Foot Diseases: Anatomical and functional disorders affecting the foot.Scalp: The outer covering of the calvaria. It is composed of several layers: SKIN; subcutaneous connective tissue; the occipitofrontal muscle which includes the tendinous galea aponeurotica; loose connective tissue; and the pericranium (the PERIOSTEUM of the SKULL).Foot Ulcer: Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy.Tooth Loss: The failure to retain teeth as a result of disease or injury.Tooth Germ: The collective tissues from which an entire tooth is formed, including the DENTAL SAC; ENAMEL ORGAN; and DENTAL PAPILLA. (From Jablonski, Dictionary of Dentistry, 1992)Tooth, Deciduous: The teeth of the first dentition, which are shed and replaced by the permanent teeth.Tooth Crown: The upper part of the tooth, which joins the lower part of the tooth (TOOTH ROOT) at the cervix (TOOTH CERVIX) at a line called the cementoenamel junction. The entire surface of the crown is covered with enamel which is thicker at the extremity and becomes progressively thinner toward the cervix. (From Jablonski, Dictionary of Dentistry, 1992, p216)Tooth Root: The part of a tooth from the neck to the apex, embedded in the alveolar process and covered with cementum. A root may be single or divided into several branches, usually identified by their relative position, e.g., lingual root or buccal root. Single-rooted teeth include mandibular first and second premolars and the maxillary second premolar teeth. The maxillary first premolar has two roots in most cases. Maxillary molars have three roots. (Jablonski, Dictionary of Dentistry, 1992, p690)Foot Injuries: General or unspecified injuries involving the foot.Tooth Eruption: The emergence of a tooth from within its follicle in the ALVEOLAR PROCESS of the MAXILLA or MANDIBLE into the ORAL CAVITY. (Boucher's Clinical Dental Terminology, 4th ed)History of NursingOsteitis: Inflammation of the bone.Gait Disorders, Neurologic: Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES.Arthrodesis: The surgical fixation of a joint by a procedure designed to accomplish fusion of the joint surfaces by promoting the proliferation of bone cells. (Dorland, 28th ed)Tooth, Supernumerary: An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.Tooth Abnormalities: Congenital absence of or defects in structures of the teeth.Tooth Wear: Loss of the tooth substance by chemical or mechanical processesTooth Extraction: The surgical removal of a tooth. (Dorland, 28th ed)Foot: The distal extremity of the leg in vertebrates, consisting of the tarsus (ANKLE); METATARSUS; phalanges; and the soft tissues surrounding these bones.France: A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris.Tooth, Nonvital: A tooth from which the dental pulp has been removed or is necrotic. (Boucher, Clinical Dental Terminology, 4th ed)History, 20th Century: Time period from 1901 through 2000 of the common era.Molar: The most posterior teeth on either side of the jaw, totaling eight in the deciduous dentition (2 on each side, upper and lower), and usually 12 in the permanent dentition (three on each side, upper and lower). They are grinding teeth, having large crowns and broad chewing surfaces. (Jablonski, Dictionary of Dentistry, 1992, p821)Tooth, Impacted: A tooth that is prevented from erupting by a physical barrier, usually other teeth. Impaction may also result from orientation of the tooth in an other than vertical position in the periodontal structures.Tooth Discoloration: Any change in the hue, color, or translucency of a tooth due to any cause. Restorative filling materials, drugs (both topical and systemic), pulpal necrosis, or hemorrhage may be responsible. (Jablonski, Dictionary of Dentistry, 1992, p253)Tooth, Unerupted: A normal developing tooth which has not yet perforated the oral mucosa or one that fails to erupt in the normal sequence or time interval expected for the type of tooth in a given gender, age, or population group.ShoesIncisor: Any of the eight frontal teeth (four maxillary and four mandibular) having a sharp incisal edge for cutting food and a single root, which occurs in man both as a deciduous and a permanent tooth. (Jablonski, Dictionary of Dentistry, 1992, p820)Odontogenesis: The process of TOOTH formation. It is divided into several stages including: the dental lamina stage, the bud stage, the cap stage, and the bell stage. Odontogenesis includes the production of tooth enamel (AMELOGENESIS), dentin (DENTINOGENESIS), and dental cementum (CEMENTOGENESIS).Charcot-Marie-Tooth Disease: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)Tooth Cervix: The constricted part of the tooth at the junction of the crown and root or roots. It is often referred to as the cementoenamel junction (CEJ), the line at which the cementum covering the root of a tooth and the enamel of the tooth meet. (Jablonski, Dictionary of Dentistry, 1992, p530, p433)Dental Enamel: A hard thin translucent layer of calcified substance which envelops and protects the dentin of the crown of the tooth. It is the hardest substance in the body and is almost entirely composed of calcium salts. Under the microscope, it is composed of thin rods (enamel prisms) held together by cementing substance, and surrounded by an enamel sheath. (From Jablonski, Dictionary of Dentistry, 1992, p286)Tooth Exfoliation: Physiologic loss of the primary dentition. (Zwemer, Boucher's Clinical Dental Terminology, 4th ed)Immobilization: The restriction of the MOVEMENT of whole or part of the body by physical means (RESTRAINT, PHYSICAL) or chemically by ANALGESIA, or the use of TRANQUILIZING AGENTS or NEUROMUSCULAR NONDEPOLARIZING AGENTS. It includes experimental protocols used to evaluate the physiologic effects of immobility.Tooth Avulsion: Partial or complete displacement of a tooth from its alveolar support. It is commonly the result of trauma. (From Boucher's Clinical Dental Terminology, 4th ed, p312)Fused Teeth: Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both.Cuspid: The third tooth to the left and to the right of the midline of either jaw, situated between the second INCISOR and the premolar teeth (BICUSPID). (Jablonski, Dictionary of Dentistry, 1992, p817)Tooth Calcification: The process whereby calcium salts are deposited in the dental enamel. The process is normal in the development of bones and teeth. (Boucher's Clinical Dental Terminology, 4th ed, p43)Bicuspid: One of the eight permanent teeth, two on either side in each jaw, between the canines (CUSPID) and the molars (MOLAR), serving for grinding and crushing food. The upper have two cusps (bicuspid) but the lower have one to three. (Jablonski, Dictionary of Dentistry, 1992, p822)Tooth Ankylosis: Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)Dental Pulp: A richly vascularized and innervated connective tissue of mesodermal origin, contained in the central cavity of a tooth and delimited by the dentin, and having formative, nutritive, sensory, and protective functions. (Jablonski, Dictionary of Dentistry, 1992)Tooth Erosion: Progressive loss of the hard substance of a tooth by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)Tooth Socket: A hollow part of the alveolar process of the MAXILLA or MANDIBLE where each tooth fits and is attached via the periodontal ligament.Tooth Replantation: Reinsertion of a tooth into the alveolus from which it was removed or otherwise lost.Maxilla: One of a pair of irregularly shaped bones that form the upper jaw. A maxillary bone provides tooth sockets for the superior teeth, forms part of the ORBIT, and contains the MAXILLARY SINUS.Dentin: The hard portion of the tooth surrounding the pulp, covered by enamel on the crown and cementum on the root, which is harder and denser than bone but softer than enamel, and is thus readily abraded when left unprotected. (From Jablonski, Dictionary of Dentistry, 1992)Tooth Resorption: Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)Diabetes Complications: Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE.Dental Caries: Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp.Dentition: The teeth collectively in the dental arch. Dentition ordinarily refers to the natural teeth in position in their alveoli. Dentition referring to the deciduous teeth is DENTITION, PRIMARY; to the permanent teeth, DENTITION, PERMANENT. (From Jablonski, Dictionary of Dentistry, 1992)Amputation: The removal of a limb or other appendage or outgrowth of the body. (Dorland, 28th ed)Root Canal Therapy: A treatment modality in endodontics concerned with the therapy of diseases of the dental pulp. For preparatory procedures, ROOT CANAL PREPARATION is available.Odontometry: Measurement of tooth characteristics.Mandible: The largest and strongest bone of the FACE constituting the lower jaw. It supports the lower teeth.Tooth Demineralization: A tooth's loss of minerals, such as calcium in hydroxyapatite from the tooth matrix, caused by acidic exposure. An example of the occurrence of demineralization is in the formation of dental caries.Dentition, Permanent: The 32 teeth of adulthood that either replace or are added to the complement of deciduous teeth. (Boucher's Clinical Dental Terminology, 4th ed)Dental Restoration, Permanent: A restoration designed to remain in service for not less than 20 to 30 years, usually made of gold casting, cohesive gold, or amalgam. (Jablonski, Dictionary of Dentistry, 1992)Anodontia: Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed)Tooth Preparation, Prosthodontic: The selected form given to a natural tooth when it is reduced by instrumentation to receive a prosthesis (e.g., artificial crown or a retainer for a fixed or removable prosthesis). The selection of the form is guided by clinical circumstances and physical properties of the materials that make up the prosthesis. (Boucher's Clinical Dental Terminology, 4th ed, p239)Periodontal Ligament: The fibrous CONNECTIVE TISSUE surrounding the TOOTH ROOT, separating it from and attaching it to the alveolar bone (ALVEOLAR PROCESS).Alveolar Process: The thickest and spongiest part of the maxilla and mandible hollowed out into deep cavities for the teeth.Age Determination by Teeth: A means of identifying the age of an animal or human through tooth examination.Neuromuscular Diseases: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.Hereditary Sensory and Motor Neuropathy: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)Sural Nerve: A branch of the tibial nerve which supplies sensory innervation to parts of the lower leg and foot.Myelin P0 Protein: A protein that accounts for more than half of the peripheral nervous system myelin protein. The extracellular domain of this protein is believed to engage in adhesive interactions and thus hold the myelin membrane compact. It can behave as a homophilic adhesion molecule through interactions with its extracellular domains. (From J Cell Biol 1994;126(4):1089-97)Neural Conduction: The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Myelin Proteins: MYELIN-specific proteins that play a structural or regulatory role in the genesis and maintenance of the lamellar MYELIN SHEATH structure.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.Hajdu-Cheney Syndrome: Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations.Peripheral Nerves: The nerves outside of the brain and spinal cord, including the autonomic, cranial, and spinal nerves. Peripheral nerves contain non-neuronal cells and connective tissue as well as axons. The connective tissue layers include, from the outside to the inside, the epineurium, the perineurium, and the endoneurium.TaiwanPodiatry: A specialty concerned with the diagnosis and treatment of foot disorders and injuries and anatomic defects of the foot.Blue Cross Blue Shield Insurance Plans: Prepaid health and hospital insurance plan.MichiganInsurance, Hospitalization: Health insurance providing benefits to cover or partly cover hospital expenses.Insurance, Physician Services: Insurance providing benefits for the costs of care by a physician which can be comprehensive or limited to surgical expenses or for care provided only in the hospital. It is frequently called "regular medical expense" or "surgical expense".Myokymia: Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Adams et al., Principles of Neurology, 6th ed, p1491)South DakotaConnexins: A group of homologous proteins which form the intermembrane channels of GAP JUNCTIONS. The connexins are the products of an identified gene family which has both highly conserved and highly divergent regions. The variety contributes to the wide range of functional properties of gap junctions.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Neurofilament Proteins: Type III intermediate filament proteins that assemble into neurofilaments, the major cytoskeletal element in nerve axons and dendrites. They consist of three distinct polypeptides, the neurofilament triplet. Types I, II, and IV intermediate filament proteins form other cytoskeletal elements such as keratins and lamins. It appears that the metabolism of neurofilaments is disturbed in Alzheimer's disease, as indicated by the presence of neurofilament epitopes in the neurofibrillary tangles, as well as by the severe reduction of the expression of the gene for the light neurofilament subunit of the neurofilament triplet in brains of Alzheimer's patients. (Can J Neurol Sci 1990 Aug;17(3):302)Aristolochic Acids: Nitro-phenanthrenes occurring in ARISTOLOCHIACEAE and other plants. They derive from stephanine (APORPHINES) by oxidative ring cleavage. The nitro group is a reactive alkylator (ALKYLATING AGENTS) that binds to biological macromolecules. Ingestion by humans is associated with nephropathy (NEPHRITIS). There is no relationship to the similar named aristolochene (SESQUITERPENES).Dictionaries, MedicalTrigeminal Neuralgia: A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)Cranial Nerves: Twelve pairs of nerves that carry general afferent, visceral afferent, special afferent, somatic efferent, and autonomic efferent fibers.Mastoid: The posterior part of the temporal bone. It is a projection of the petrous bone.Cranial Nerve Diseases: Disorders of one or more of the twelve cranial nerves. With the exception of the optic and olfactory nerves, this includes disorders of the brain stem nuclei from which the cranial nerves originate or terminate.Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.

Linkage relations of locus for X-borne type of Charcot-Marie-Tooth muscular atrophy and that for Xg blood groups. (1/499)

The locus for the X-borne type of Charcot-Marie-Tooth muscular atrophy is not close to the Xg locus and probably not within direct measurable distance of it.  (+info)

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. (2/499)

We observed a missense mutation in the peripheral myelin protein zero gene (MPZ, Thr124Met) in seven Charcot-Marie-Tooth (CMT) families and in two isolated CMT patients of Belgian ancestry. Allele-sharing analysis of markers flanking the MPZ gene indicated that all patients with the Thr124Met mutation have one common ancestor. The mutation is associated with a clinically distinct phenotype characterized by late onset, marked sensory abnormalities and, in some families, deafness and pupillary abnormalities. Nerve conduction velocities of the motor median nerve vary from <38 m/s to normal values in these patients. Clusters of remyelinating axons in a sural nerve biopsy demonstrate an axonal involvement, with axonal regeneration. Phenotype-genotype correlations in 30 patients with the Thr124Met MPZ mutation indicate that, based on nerve conduction velocity criteria, these patients are difficult to classify as CMT1 or CMT2. We therefore conclude that CMT patients with slightly reduced or nearly normal nerve conduction velocity should be screened for MPZ mutations, particularly when additional clinical features such as marked sensory disturbances, pupillary abnormalities or deafness are also present.  (+info)

Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. (3/499)

BACKGROUND: X linked dominant Charcot-Marie-Tooth disease (CMT1X) is an inherited motor and sensory neuropathy that mainly affects the peripheral nervous system. CMT1X is associated with mutations in the gap junction protein connexin 32 (Cx32). Cx32 is expressed in Schwann cells and oligodendrocytes in the peripheral (PNS) and in the (CNS) respectively. METHODS: A CMT1X family with a Cx32 mutation was examined clinically and electrophysiologically to determine whether PNS, or CNS, or both pathways were affected. RESULTS: In a CMT1X family a novel mutation (Asn205Ser) was found in the fourth transmembrane domain of Cx32. The patients showed typical clinical and electrophysiological abnormalities in the PNS, but in addition visual, acoustic, and motor pathways of the CNS were affected subclinically. This was indicated by pathological changes in visually evoked potentials (VEPs), brainstem auditory evoked potentials (BAEPs), and central motor evoked potentials (CMEPs). CONCLUSIONS: These findings underscore the necessity of a careful analysis of CNS pathways in patients with CMT and Cx32 mutations. Abnormal electrophysiological findings in CNS pathway examinations should raise the suspicion of CMTX and a search for gene mutations towards Cx32 should be considered.  (+info)

Motor nerve conduction velocity in spinal muscular atrophy of childhood. (4/499)

The ulnar and posterior tibial conduction velocities were measured in 29 children with spinal muscular atrophy, 14 of whom had the servere form of the disease. The ulnar nerve velocity was slow in 12 of the 14 severely affected infants, but normal or fast in 11 of 14 children less severely affected. The corresponding results for the posterior tibial nerve were slow velocities in 11 of 12 infants in the severe group and normal or fast in all 11 infants less severely affected. The difficulty in distinguishing infantile spinal muscular atrophy from peripheral neuropathy is emphasized.  (+info)

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. (5/499)

OBJECTIVES: To report the occurrence of the autosomal recessive form of demyelinating Charcot-Marie-Tooth disease (CMT) with a locus on chromosome 5q23-33 in six non-related European families, to refine gene mapping, and to define the disease phenotype. METHODS: In an Algerian patient with autosomal recessive demyelinating CMT mapped to chromosome 5q23-q33 the same unique nerve pathology was established as previously described in families with a special form of autosomal recessive demyelinating CMT. Subsequently, the DNA of patients with this phenotype was tested from five Dutch families and one Turkish family for the 5q23-q33 locus. RESULTS: These patients and the Algerian families showed a similar and highly typical combination of clinical and morphological features, suggesting a common genetic defect. A complete cosegregation for markers D5S413, D5S434, D5S636, and D5S410 was found in the families. Haplotype construction located the gene to a 7 cM region between D5S643 and D5S670. In the present Dutch families linkage disequilibrium could be shown for various risk alleles and haplotypes indicating that most of these families may have inherited the underlying genetic defect form a common distant ancestor. CONCLUSIONS: This study refines the gene localisation of autosomal recessive demyelinating CMT, mapping to chromosome 5q23-33 and defines the phenotype characterised by a precocious and rapidly progressive scoliosis in combination with a relatively mild neuropathy and a unique pathology. Morphological alterations in Schwann cells of the myelinated and unmyelinated type suggest the involvement of a protein present in both Schwann cell types or an extracellular matrix protein rather than a myelin protein. The combination of pathological features possibly discerns autosomal recessive demyelinating CMT with a gene locus on chromosome 5q23-33 from other demyelinating forms of CMT disease.  (+info)

Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. (6/499)

Hexamers of connexins (Cxs) form hemichannels that dock tightly in series via their extracellular domains to give rise to gap junction channels. Here we examined the ability of a variety of C-terminal Cx32 mutations, most of which have been identified in X-linked Charcot-Marie-Tooth disease, to form hemichannels and to complete gap junction channels using the Xenopus oocyte system. First, we show that undocked wild-type Cx32 hemichannels at the plasma membrane can be detected as opening channels activated by depolarization. We have been able to estimate the efficiency of assembly of complete channels by measuring the time-dependent incorporation of preformed hemichannels into gap junction channels after cell-to-cell contact. These data offer strong evidence that hemichannels are the direct precursors of gap junction channels. Of 11 Cx32 mutants tested, a group of 5 mutations prevented the formation of functional hemichannels at the cell surface, whereas 4 mutations were fully able to form precursors but reduced the ability of hemichannels to assemble into complete channels, and 2 mutants formed channels normally. The data revealed that a minimum length of human Cx32 including the residue Arg-215 is required for the expression of hemichannels at the cell surface and that the efficiency of hemichannel incorporation into complete channels decreased gradually with the progressive shortening of the cytoplasmic C-terminal domain.  (+info)

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. (7/499)

A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin protein zero (MPZ) found a mutation in codon 124 resulting in substitution of threonine by methionine. One of the patients, presently 30 years old, showed only Argyll Robertson-like pupils as an objective sign but no clinical or electrophysiological signs of peripheral neuropathy.  (+info)

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. (8/499)

Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and deafness have not been reported. The present molecular study involves a family with progressive features of CMT and deafness, originally reported by Kousseff et al. Genetic analysis of 70 individuals (31 affected, 28 unaffected, and 11 spouses) revealed linkage to markers on chromosome 17p11.2-p12, with a maximum LOD score of 9.01 for marker D17S1357 at a recombination fraction of .03. Haplotype analysis placed the CMT-deafness locus between markers D17S839 and D17S122, a approximately 0.6-Mb interval. This critical region lies within the CMT type 1A duplication region and excludes MYO15, a gene coding an unconventional myosin that causes a form of autosomal recessive deafness called DFNB3. Affected individuals from this family do not have the common 1.5-Mb duplication of CMT type 1A. Direct sequencing of the candidate peripheral myelin protein 22 (PMP22) gene detected a unique G-->C transversion in the heterozygous state in all affected individuals, at position 248 in coding exon 3, predicted to result in an Ala67Pro substitution in the second transmembrane domain of PMP22.  (+info)

*Charcot-Marie-Tooth disease classifications

Classifications of Charcot-Marie-Tooth disease refers to the types and subtypes of Charcot-Marie-Tooth disease (CMT), a ... 1997). "New Mutations in the X-Linked Form of Charcot-Marie-Tooth Disease". European Neurology. 37 (1): 38-42. doi:10.1159/ ... 2010). "Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy". New England Journal of Medicine. 362 (13): ...

*X-linked recessive inheritance

Charcot-Marie-Tooth disease (CMTX2-3); disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch ... Fabry disease; A lysosomal storage disease causing anhidrosis, fatigue, angiokeratomas, burning extremity pain and ocular ... It was once thought to be the "royal disease" found in the descendants of Queen Victoria. This is now known to have been ... Theoretically, a mutation in any of the genes on chromosome X may cause disease, but below are some notable ones, with short ...

*Dejerine-Sottas disease

Charcot-Marie-Tooth disease Satran, R. (1980). "Dejerine-Sottas Disease Revisited". Archives of Neurology. 37 (2): 67-68. doi: ... March 2006). "Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene". Neurology. 66 (5): 745-7. doi ... Symptoms are usually more severe and rapidly progressive than in the other more common Charcot-Marie-Tooth diseases. Some ... hereditary motor and sensory polyneuropathy type III and Charcot-Marie-Tooth disease type 3), is a hereditary neurological ...

*List of OMIM disorder codes

KARS Charcot-Marie-Tooth disease type 1A; 118220; PMP22 Charcot-Marie-Tooth disease type 1B; 118200; MPZ Charcot-Marie-Tooth ... LITAF Charcot-Marie-Tooth disease type 1D; 607678; EGR2 Charcot-Marie-Tooth disease type 1E; 118300; PMP22 Charcot-Marie-Tooth ... KIF1B Charcot-Marie-Tooth disease type 2A2; 609260; MFN2 Charcot-Marie-Tooth disease type 2B; 600882; RAB7 Charcot-Marie-Tooth ... LMNA Charcot-Marie-Tooth disease type 2B2; 605589; MED25 Charcot-Marie-Tooth disease type 2D; 601472; GARS Charcot-Marie-Tooth ...

*GJB1

"Connexin32 and X-linked Charcot-Marie-Tooth disease". Neurobiology of Disease. 4 (3-4): 221-30. doi:10.1006/nbdi.1997.0152. ... GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy X Type 1 OMIM entries on Charcot-Marie-Tooth Neuropathy X Type ... Currently it is unknown how the mutations of the GJB1 gene lead to these specific features of Charcot-Marie-Tooth disease, ... Approximately four hundred mutations of the GJB1 gene have been identified in people with X-linked Charcot-Marie-Tooth disease ...

*Roussy-Lévy syndrome

... are also associated with Charcot-Marie-Tooth disease type 1A and MPZ mutations are associated with Charcot-Marie-Tooth disease ... Charcot-Marie-Tooth disease Dejerine-Sottas disease Zubair, S.; Holland, N. R.; Beson, B.; Parke, J. T.; Prodan, C. I. (2008 ... Thomas, P. K. (1999). "Overview of Charcot-Marie-Tooth Disease Type 1A". Annals of the New York Academy of Sciences. 883: 1-5. ... In common with other types of Charcot-Marie-Tooth disease, neurological examination reveals decreased nerve conduction velocity ...

*Peripheral myelin protein 22

Patel PI, Lupski JR (Apr 1994). "Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease". Trends in ... "Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype". ... Berger P, Young P, Suter U (2002). "Molecular cell biology of Charcot-Marie-Tooth disease". Neurogenetics. 4 (1): 1-15. doi: ... such as Charcot-Marie-Tooth type 1A (CMT1A), Dejerine-Sottas disease, and Hereditary Neuropathy with Liability to Pressure ...

*INF2

It can be associated with Focal segmental glomerulosclerosis and Charcot-Marie Tooth Disease. GRCh38: Ensembl release 89: ... "INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy". The New England Journal of Medicine. 365 (25): 2377-88. doi ...

*Hereditary sensory and autonomic neuropathy

This type includes a popular disease Charcot-Marie-Tooth type 2B syndrome (HMSN 2B). that is also named as HSAN sub-type 1C. ... They are less common than Charcot-Marie-Tooth disease. Five different clinical entities have been described under hereditary ... and teeth include tooth extraction, and/or filing (smoothing) of the sharp incisal edges of teeth, and/or use of a mouth guard ... The disease usually starts during early adolescence or adulthood. The disease is characterized by the loss of pain sensation ...

*LITAF

2002). "Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating ... 2005). "Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease". Ann. Neurol. 57 (4): 589-91. doi:10.1002/ana ... 2006). "SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation". ... 2003). "Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C". Neurology. 60 (1): 22- ...

*RAB7A

"Physical Medicine and Rehabilitation for Charcot-Marie-Tooth Disease". Medscape. Retrieved 4 November 2014. Krajewski KM, Lewis ... "Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila". Neurobiology of Disease. 65: 211- ... "Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A". Brain. 123 (7): 1516-27. doi:10.1093/ ... Also known as Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN) and peroneal muscular atrophy (PMA ...

*Human Genome Structural Variation

... was Charcot-Marie Tooth (CMT) disease. Most of the associations found with CMT were with a 1.5 Mb tandem duplication in 17p11.2 ... "DNA duplication associated with Charcot-Marie-Tooth disease type 1A". Cell. 66 (2): 219-232. doi:10.1016/0092-8674(91)90613-4. ... It was known that that copy number variation plays a big role in many human diseases but at the time large scale studies of ... There have been many studies identifying inversions because they have been found to have a big role in many diseases. A study ...

*KIF1B

It is associated with Charcot-Marie-Tooth disease, type 2A1. KIF1B has been shown to interact with GIPC1. GRCh38: Ensembl ... 1998). "Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features ... "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta". Cell. 105 (5): 587-97. doi:10.1016/ ... GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2. ...

*Hagemoser-Weinstein-Bresnick syndrome

Leber's hereditary optic neuropathy Charcot-Marie-Tooth disease Hagemoser et. al (1989). "Optic atrophy, hearing loss, and ... Onset of the disease occurred in early childhood, as opposed to the later onset of similar diseases. Optic atrophy occurs in ... A possible autosomal recessive form of this disease was described in 1970 by Iwashita et al. ...

*Vincristine

A person with a family history of foot drop and/or Charcot-Marie-Tooth disease (CMT) should avoid the taking of vincristine. ... "Severe Vincristine Neuropathy in Charcot-Marie-Tooth Disease Type 1A". Cancer. 77 (7): 1356-1362. doi:10.1002/(SICI)1097-0142( ... This includes acute lymphocytic leukemia, acute myeloid leukemia, Hodgkin's disease, neuroblastoma, and small cell lung cancer ...

*Distal hereditary motor neuropathy type V

It is common for them to be called "spinal forms of Charcot-Marie-Tooth disease (CMT)", because the diseases are closely ... It is allelic (i.e., caused by mutations on the same gene) with Charcot-Marie-Tooth disease and with Silver's Syndrome, a ... Pareyson, Davide; Marchesi, Chiara (2009). "Diagnosis, natural history, and management of Charcot-Marie-Tooth disease". The ... "Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V". The ...

*Pes cavus

By adulthood, Charcot-Marie-Tooth disease can cause painful foot deformities such as pes cavus. Although it is a relatively ... There are no cures or effective courses of treatment to halt the progression of any form of Charcot-Marie-Tooth disease. The ... Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth disease. Clin Genet 1974; 6: 98-118 Shy ME, Blake J, Krajewski K, ... Among the cases of neuromuscular pes cavus, 50% have been attributed to Charcot-Marie-Tooth disease, which is the most common ...

*MFN2

Mutations of the gene are implicated in Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by ... Cartoni R, Martinou JC (August 2009). "Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type ... GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2. ... Chan DC (June 2006). "Mitochondria: dynamic organelles in disease, aging, and development". Cell. 125 (7): 1241-52. doi:10.1016 ...

*PRX (gene)

2006). "Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene". Neurology. 66 (5): 745-7. doi: ... 2000). "Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large ... 2001). "A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease". Hum. Mol ... 2004). "Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease". J. Hum. Genet. 49 (7): 376-9. ...

*NFL (protein)

It is associated with Charcot-Marie-Tooth disease 1F and 2E. The Neurofilament light subunit can be measured with immunoassays ... "A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene". Am. ... "Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E". Ann. Neurol. 49 ... "Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene". Arch Neurol. 64 (7 ...

*CMTX3

"Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease". Neurology. 67 (11): 2016-21. doi:10.1212/01.wnl. ... Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) is a protein that in humans is encoded by the CMTX3 gene. "Human PubMed ... Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)". Brewer M, Changi F, Antonellis A, Fischbeck K, Polly P, Nicholson G, ... Kennerson M (July 2008). "Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb ...

*Sensorineural hearing loss

Charcot-Marie-Tooth disease an inherited neurological disorder with delayed onset that can affect the ears as well as other ... "Bilateral sudden sensorineural hearing loss caused by Charcot-Marie-Tooth disease". J Laryngol Otol. 117 (5): 399-401. doi: ... It can help identify conductive hearing loss due to disease of the middle ear or eardrum from other kinds of hearing loss ... Autoimmune disease: although probably rare, it is possible for autoimmune processes to target the cochlea specifically, without ...

*Hand strength

"Dynamometry of intrinsic hand muscles in patients with Charcot-Marie-Tooth disease". Neurology. 67 (11): 2022-7. doi:10.1212/01 ... It is used to diagnose diseases, to evaluate and compare treatments, to document progression of muscle strength, and to provide ...

*Friedrich Schultze

ISBN 0-930405-26-9. Charcot-Marie-Tooth disease Archived May 14, 2011, at the Wayback Machine. @ Who Named It Who Named It ( ... with being the first physician to describe a neurological disorder that later became known as Charcot-Marie-Tooth disease. He ... Textbook of nervous diseases. Die Krankheiten der Hirnhäute und die Hydrocephalie, in Hermann Nothnagel's Specielle Pathologie ... Diseases of the meninges and hydrocephalus. Kreuter, Alma (1996): Deutschsprachige Neurologen und Psychiater: Ein biographisch- ...

*Smith-Magenis syndrome

Serine hydroxymethyltransferase Charcot-Marie-Tooth disease "OMIM Entry - # 182290 - SMITH-MAGENIS SYNDROME; SMS". omim.org. ...

*Split hand syndrome

Charcot-Marie-Tooth disease, poliomyelitis and progressive muscular atrophy. A slow onset and a lack of pain or sensorial ... It has been proposed as a relatively specific sign for amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease). It can also ... Wilbourn AJ, Sweeney PJ (1994). "Dissociated wasting of medial and lateral hand muscles with motor neuron disease". Can J ...
Contents of the 15 Chapter for This Charcot-Marie-Tooth Disease Type I A Drug Market Study:-. Chapter 1: to describe Global Charcot-Marie-Tooth Disease Type I A Drug Market Introduction, product scope, market overview, market opportunities, market risk, market driving force;. Chapter 2: to analyze the top manufacturers of Global Charcot-Marie-Tooth Disease Type I A Drug Market, with sales, revenue, and price of Global Charcot-Marie-Tooth Disease Type I A Drug Market, in 2016 and 2017;. Chapter 3: to display the competitive situation among the top manufacturers, with sales, revenue and market share in 2016 and 2017;. Chapter 4: to show the Global Charcot-Marie-Tooth Disease Type I A Drug market by regions, with sales, revenue and market share of Global Charcot-Marie-Tooth Disease Type I A Drug Market, for each region, from 2012 to 2017;. Chapter 5, 6, 7, 8 and 9: to analyze the key regions, with sales, revenue and market share by key countries in these regions;. Chapter 10 and 11: to show the ...
Looking for online definition of Charcot-Marie-Tooth disease type 6 in the Medical Dictionary? Charcot-Marie-Tooth disease type 6 explanation free. What is Charcot-Marie-Tooth disease type 6? Meaning of Charcot-Marie-Tooth disease type 6 medical term. What does Charcot-Marie-Tooth disease type 6 mean?
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K; autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K; CMT4K; SURF1-related Charcot-Marie-Tooth disease type 4; SURF1-related CMT4; SURF1-related severe demyelinating Charcot-Marie-Tooth disease
What is Charcot-Marie-Tooth disease? What are the symptoms of Charcot-Marie-Tooth disease? What causes Charcot-Marie-Tooth disease? What are the types of Charcot-Marie-Tooth disease? How is Charcot-Marie-Tooth disease diagnosed? How is Charcot-Marie-Tooth disease treated? What research is being done? Where can I get more information?
UniProtKB/Swiss-Prot : 74 Charcot-Marie-Tooth disease 4B2: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4 ...
TY - JOUR. T1 - Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease. AU - Luo, Wei. AU - Tang, Bei Sha. AU - Zhao, Guo Hua. AU - Li, Qi. AU - Xiao, Jianfeng. AU - Yang, Qi Dong. AU - Xia, Jia Hui. PY - 2003/4/1. Y1 - 2003/4/1. N2 - Objective: To study the characteristic of the mutation of neurofilament-light (NF-L) gene in Chinese Charcot-Marie-Tooth disease (CMT) patients. Methods: Mutation analysis of NF-L gene was made by use of polymerase chain reaction-single strand conformation polymorphsim combined with DNA direct sequencing in 32 CMT probands from the Hans of five provinces in China who had been diagnosed by clinical feature and electromyography and/or biopsy of sural nerve. Results: In 32 CMT probands, only one sporadic case was found to display variant banding pattern, and this case was confirmed as 1329C to T (Tyr443Tyr) single nucleotide polymorphism by sequencing. Conclusion: Mutation of NF-L gene may be rare in Chinese CMT patients.. AB - Objective: ...
Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot-Marie-Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein. In transfected cells, the mutant Cx32 proteins encoded by someCx32mutations fail to reach the cell surface; other mutant proteins reach the cell surface, but only one of these forms functional gap junctions. In peripheral nerve, Cx32 is localized to incisures and paranodes, regions of noncompact myelin within the myelin sheath. This localization suggests that Cx32 forms
Charcot-Marie-Tooth disease (CMT) is the name for a group of inherited disorders of nerve conduction causing weakness and mild loss of sensation in the limbs.. CMT affects the peripheral nerves, those groups of nerve cells carrying information to and from the spinal cord. CMT decreases the ability of these nervesto carry motor commands to muscles, especially those furthest from the spinal cord in the feet and hands. As a result, these muscles are weakened. CMT also causes mild sensory loss.. CMT is named for the three neurologists who first described it, and does notinvolve the teeth in any way. It is also known as hereditary motor and sensory neuropathy, and is also sometimes called peroneal muscular atrophy, referring to the muscles in the leg affected early on in the disease.. The symptoms grouped together under the name CMT can be caused by any of at least six different genetic defects. Most of the defects, identified as of early 1998, affect myelin, the coating that insulates nerve cells to ...
Charcot-Marie-Tooth neuropathies (CMT) are inherited neuromuscular disorders caused by length-dependent neurodegeneration of peripheral nerves. More than 900 mutations in 60 different genes are responsible for Charcot-Marie-Tooth neuropathy. Despite significant progress in therapeutic strategies, the disease remains incurable. The increasing number of genes linked to the disease, and their considerable clinical and genetic heterogeneity renders the development of these strategies particularly challenging. In this context, cellular and animals models provide powerful tools. Efficient motor and sensory tests have been developed to assess the behavioral phenotype in transgenic animal models (rodents and fly). When these models reproduce a phenotype comparable to CMT, they allow therapeutic approaches and the discovery of modifiers and biomarkers. The majority of these models concern the demyelinating form (type 1) of the disease. The axonal form (type 2) is less common. Both forms can further be ...
Classifications of Charcot-Marie-Tooth disease refers to the types and subtypes of Charcot-Marie-Tooth disease (CMT), a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. CMT is a result of genetic mutations in a number of genes.[1]. ...
What is Charcot-Marie-Tooth Disease? Charcot-Marie-Tooth disease (CMT) is a neurological disorder, named after the three physicians who first described it in 1886 - Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom.
A 10-year-old girl studied with genetic, clinical, electrodiagnostic, and histopathologic methods showed evidence for both nemaline rod myopathy and Charcot-Marie-Tooth disease. Although Charcot-Marie-Tooth disease was documented in the family, no other members were found to have clinical and electrodiagnostic evidence for a primary myopathy.
Relief is when you and the right researcher find each other Finding the right clinical trial for Charcot-Marie-Tooth Disease Type 4B2 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
Patients with Charcot-Marie-Tooth neuropathy and gene targeting in mice revealed an essential role for the SH3TC2 gene in peripheral nerve myelination. SH3TC2 expression is restricted to Schwann cells in the peripheral nervous system, and the gene product, SH3TC2, localizes to the perinuclear recycling compartment. Here, we show that SH3TC2 interacts with the small guanosine triphosphatase Rab11, which is known to regulate the recycling of internalized membranes and receptors back to the cell surface. Results of protein binding studies and transferrin receptor trafficking are in line with a role of SH3TC2 as a Rab11 effector molecule. Consistent with a function of Rab11 in Schwann cell myelination, SH3TC2 mutations that cause neuropathy disrupt the SH3TC2/Rab11 interaction, and forced expression of dominant negative Rab11 strongly impairs myelin formation in vitro. Our data indicate that the SH3TC2/Rab11 interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the
A potential new treatment strategy for patients with Charcot-Marie-Tooth disease is on the horizon, thanks to research by neuroscientists now at the University at Buffalos (UBs) Hunter James Kelly Research Institute and their colleagues in Italy and England. The institute is the research arm of the Hunters Hope Foundation, established in 1997 by Jim Kelly, Buffalo Bills Hall of Fame quarterback, and his wife, Jill, after their infant son Hunter was diagnosed with Krabbe leukodystrophy, an inherited fatal disorder of the nervous system. Hunter died in 2005 at the age of eight. The institute conducts research on myelin and its related diseases with the goal of developing new ways of understanding and treating conditions such as Krabbe disease and other leukodystrophies. Charcot-Marie-Tooth or CMT disease, which affects the peripheral nerves, is among the most common of hereditary neurological disorders; it is a disease of myelin and it results from misfolded proteins in cells that produce ...
Congenital hypomyelinating neuropathy (CHN) is characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities. {7,8:Warner et al. (1997, 1998)} noted that pathologic findings on sural nerve biopsies show hypomyelination of most or all fibers. Based on these findings, CHN is considered to be a result of congenital impairment in myelin formation. There has been some controversy and difficulty in differentiating congenital hypomyelination from Dejerine-Sottas syndrome (DSS; {145900}), because there is considerable overlap in clinical presentation. Based on pathologic findings of sural nerve biopsies (the absence of active myelin breakdown and the paucity of the onion bulbs in CHN and the presence of demyelination/remyelination and an abundance of well-organized onion bulbs in DSS; see {1:Balestrini et al., 1991}), CHN is considered to result from a congenital impairment in myelin formation, whereas DSS is thought to be due to ...
Find all books from International Conference on Charcot-Marie-Tooth Disease 1998 Sainte-a, Michael E. Shy, Robert E. Lovelace, John Kamholz - Charcot-Marie-Tooth Disorders: Papers Presented at the Third International Conference on October 21-24 1998, in Sainte-Adele, Quebec, Canada (Annals of the New York Academy of Sciences). At find-more-books.com you can find used, antique and new books, COMPARE results and immediately PURCHASE your selection at the best price. 1573311820
Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuropathies. Recently, three CMT1-associated point mutations (I43N, T51P, and I52T) were discovered in the abundant peripheral myelin protein P2. These mutations trigger abnormal myelin structure, leading to reduced nerve conduction velocity, muscle weakness, and distal limb atrophy. P2 is a myelin-specific protein expressed by Schwann cells that binds to fatty acids and membranes, contributing to peripheral myelin lipid homeostasis. We studied the molecular basis of the P2 patient mutations. None of the CMT1-associated mutations alter the overall folding of P2 in the crystal state. P2 disease variants show increased aggregation tendency and remarkably reduced stability, T51P being most severe. In addition, P2 disease mutations affect protein dynamics. Both fatty acid binding by P2 and the kinetics of its membrane interactions are affected by the mutations. Experiments and simulations suggest opening of the β barrel in T51P, ...
Three recurrent mutations were also identified during sequencing. Two families (nos. 264 and 265) showed a previously reported nonsense mutation predicting truncation of the protein at amino acid 220. [17] One family (no. 69) showed a codon 139 valine right arrow methionine missense mutation, also in the third transmembrane domain. [9] Another family (no. 269) showed recurrence of the codon 156 leucine right arrow arginine missense mutation located in the second extracellular loop. [9] None of the reported families with the same mutation are known to be related. In most cases, families with the same mutation are from different geographic regions. For example, family 69 is from New York, and the other two families with the identical mutation are from South Dakota and Michigan, with no known New York connection.. Nine families analyzed had no mutation within the coding region of Cx32. Seven of these represent sporadic cases, one has affected members in only two generations, and another is a large, ...
2. Gururaj G, Isaac MK, Subbakrishna DK, Ranjani R. Risk factors for completed suicides: a case-control study from Bangalore, India. Injury Control Safety Promotion 2004; 11: 183-91 (b) Wasserman D, Cheng Q, Jiang G. Global suicide rates among young people aged 15-19. World Psychiatry 2005; 4: 114-20 (c) Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, et al. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet 2005; 116: 222-4.. 3. Iemmi V, Bantjes J, Coast E, Channer K, Leone T, McDaid D, et al. Suicide and poverty in low-income and middle-income countries: a systematic review. Lancet Psychiatry 2016; 3: 774-83.. 4. Barraclough B, Bunch J, Nelson B, Sainsbury P. A hundred cases of suicide: clinical aspects. Br J Psychiatry 1974; 125: 355-73 (b) Dorpat TL, Ripley HS. A study of suicide in the Seattle area. Comprehensive Psychiatry 1960; 1: 349-59 (c) Cao W, Wu T, An T, Li L. [Study on the mortality of injury in Chinese population in urban and ...
Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system. We generated a transgenic mouse model of CMT2A that developed severe early onset vision loss and neurological deficits, axonal degeneration without cell body loss, and cytoplasmic and axonal accumulations of fragmented mitochondria. While mitochondrial aggregates were labeled for mitophagy, mutant MFN2 did not inhibit Parkin-mediated degradation, but instead had a dominant negative effect on mitochondrial fusion only when MFN1 was at low levels, as occurs in neurons. Finally, using a transgenic approach, we found that augmenting the level of MFN1 in the nervous system in vivo rescued all phenotypes in mutant MFN2R94Q-expressing mice. These data demonstrate that the MFN1/MFN2 ratio is a key determinant of tissue specificity in CMT2A and indicate that ...
Marco, A (2003) Evolutionary and Structural Analyses of GDAP1, Involved in Charcot-Marie-Tooth Disease, Characterize a Novel Class of Glutathione Transferase-Related Genes. Molecular Biology and Evolution, 21 (1). 176 - 187. ISSN 0737-4038 ...
Charcot-Marie-Tooth, or CMT, most common inherited peripheral neuropathy. Discovered in 1886 by, Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth
Charcot-Marie-Tooth Disease or CMT is a slow progression of weakness in the muscles as well as atrophy or wasting in the feet lower legs forearms and hands
... is an inherited nerve defect that causes abnormalities in the nerves that supply your feet, legs, hands, and arms.
Charcot-Marie-Tooth disease, Type 2E information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Learn more about Charcot-Marie-Tooth Disease at Atlanta Outpatient Surgery Center DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Learn more about Charcot-Marie-Tooth Disease at Memorial Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Missense mutations (K141N and K141E) in the α-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which mutant HSPB8 leads to a specific motor neuron disease phenotype is currently unknown. To address this question, we compared the effect of mutant HSPB8 in primary neuronal and glial cell cultures. In motor neurons, expression of both HSPB8 K141N and K141E mutations clearly resulted in neurite degeneration, as manifested by a reduction in number of neurites per cell, as well as in a reduction in average length of the neurites. Furthermore, expression of the K141E (and to a lesser extent, K141N) mutation also induced spheroids in the neurites. We did not detect any signs of apoptosis in motor neurons, showing that mutant HSPB8 resulted in neurite degeneration without inducing neuronal death. While overt in motor neurons, these phenotypes were only very mildly ...
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4-Mb duplication on chromosome 17p11.2, which contains the peripheral myelin protein 22 (PMP22), a protein primarily expressed in myelinating Schwann cells (1, 2). In this issue, Zhao et al. treated two rodent models of CMT1A with PMP22-targeting antisense oligonucleotides (ASOs)and showed a 35% reduction in PMP22 mRNA (3). This reduction was not only adequate in slowing disease progression, but also improved the CMT1A-associated phenotypes in both models. These results are exciting for CMT1A researchers for several reasons. First, CMT1A is the most common inherited neuropathy, affecting 1:5,000 individuals. Second, severity of CMT1A appears to be dependent on PMP22 copy number, as patients with 4 copies of PMP22 have more severe neuropathy than typical CMT1A patients, who have 3 copies of PMP22 (4). Additionally, patients with missense mutations in PMP22 develop neuropathies that are similar to CMT1A (5). Taken together, these data ...
OMIM : 58 Hereditary neuropathy with or without age-related macular degeneration is a complex autosomal dominant syndrome characterized by a variable peripheral neuropathy resembling demyelinating Charcot-Marie-Tooth disease (see, e.g., CMT1A, 118220) and/or axonal CMT (see, e.g., CMT2A1, 118210) with sensorimotor impairment mainly of the distal lower extremities, or spinal CMT, also known as distal hereditary motor neuropathy (see, e.g., HMN1; 182960) with intact sensation. Age-related macular degeneration, if present, shows very late onset in the seventies or eighties. In addition, some patients may show hyperelasticity of the skin or joints. The age at onset of neuropathy and severity of the disorder is highly variable, even within families (summary by Auer-Grumbach et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075. (608895) ...
The overall goal of my laboratory is to understand the molecular mechanisms of neuromuscular diseases using in vitro and animal modeling, based on insights from human genetics, to develop novel therapeutic agents. We are particularly interested in inherited neuropathy (Charcot-Marie-Tooth disease), and amyotrophic lateral sclerosis (ALS). The molecular pathways defined by genes mutated in hereditary neuromuscular diseases provide insight into molecular pathogenesis, and are potential candidates for therapeutic manipulation. To investigate mechanisms of motor neuron disease/ALS we are exploring the role of mutations in both the repeat expansion in the C9ORF72 gene, and point mutations in the TARDBP gene, using human induced pluripotent stem cell (iPSC)-derived motor neurons and mouse models. To investigate Charcot-Marie-Tooth disease we are studying (i) the mechanism of mutations in the Mitofusin 2 gene in axonal CMT, and (ii) the use of iPSC-derived Schwann cells from patients with CMT type 1A ...
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of peripheral myelin protein 22 (PMP22) and is the most common hereditary peripheral neuropathy. CMT1A is characterized by demyelination and axonal loss, which underlie slowed motor nerve conduction velocity (MNCV) and reduced compound muscle action potentials (CMAP) in patients. There is currently no known treatment for this disease. Here, we show that antisense oligonucleotides (ASOs) effectively suppress PMP22 mRNA in affected nerves in 2 murine CMT1A models. Notably, initiation of ASO treatment after disease onset restored myelination, MNCV, and CMAP almost to levels seen in WT animals. In addition to disease-associated gene expression networks that were restored with ASO treatment, we also identified potential disease biomarkers through transcriptomic profiling. Furthermore, we demonstrated that reduction of PMP22 mRNA in skin biopsies from ASO-treated rats is a suitable biomarker for evaluating target engagement in ...
Charcot-Marie-Tooth (CMT) disease is the most common inherited neurologic disorder. CMT is characterized by inherited neuropathies without known metabolic derangements.
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011 ...
Mutations in heat shock 27 kDa protein 1 (HSP27 or HSPB1) cause distal hereditary motor neuropathy (dHMN) or Charcot-Marie-Tooth disease type 2 F (CMT2F) according to unknown factors. Mutant HSP27 proteins affect axonal transport by reducing acetylated tubulin. We generated a transgenic mouse model overexpressing HSP27-S135F mutant protein driven by Cytomegalovirus (CMV) immediate early promoter. The mouse phenotype was similar to dHMN patients in that they exhibit motor neuropathy. To determine the phenotypic aberration of transgenic mice, behavior test, magnetic resonance imaging (MRI), electrophysiological study, and pathology were performed. Rotarod test showed that founder mice exhibited lowered motor performance. MRI also revealed marked fatty infiltration in the anterior and posterior compartments at calf level. Electrophysiologically, compound muscle action potential (CMAP) but not motor nerve conduction velocity (MNCV) was reduced in the transgenic mice. Toluidine staining with semi-thin
Approximately four hundred mutations of the GJB1 gene have been identified in people with X-linked Charcot-Marie-Tooth disease (CMTX).[14] CMTX is predominantly classified with symptoms related to muscle weakness and sensory problems, especially in the outer extremities of the limbs.[8] CMTX is the second most common type of CMT (about 10% of all patients) and is transmitted as an x-linked dominant trait.[7] It is categorised by the lack of male-to-male transmission of the mutated GJB1 gene and the differences in severity between heterozygous women and hemizygous men, with the later being more severely affected.[11]. Most of the mutations of the GJB1 gene switch or change a single amino acid in the gap junction (connexin-32) protein, although some may result in a protein of irregular size.[7][11][13][14] Some of these mutations also cause hearing loss in patients with CMTX.[14] Currently it is unknown how the mutations of the GJB1 gene lead to these specific features of Charcot-Marie-Tooth ...
List of 16 disease causes of Constant distal muscle weakness, patient stories, diagnostic guides. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for Constant distal muscle weakness.
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Charcot (shahr-KOH)-Marie-Tooth disease is a group of hereditary disorders that damage the nerves in your arms and legs (peripheral nerves). Charcot-Marie-Tooth is also known as hereditary motor and sensory neuropathy.
GENEVA -- (Marketwire) -- 01/07/13 -- Addex Therapeutics / Addex Announces Positive Data with ADX71441 in a Pre-Clinical Transgenic Model of Charcot-Marie-Tooth 1A Disease . Processed and transmitted by Thomson Reuters ONE. The issuer is solely responsible for the content of this announcement. ADX71441, a novel oral small molecule positive allosteric modulator, on track for Phase 1 clinical testing in the first half of 2013 Addex Therapeutics (SIX: ADXN), a leading company pioneering allosteric modulation-based drug discovery and development, announced today achievement of a positive Proof of Concept for its lead GABA-B receptor (GABA-BR) positive allosteric modulator (PAM) compound, ADX71441, in a validated pre-clinical model of Charcot-Marie-Tooth 1A (CMT1A). CMT1A is a rare (1:5,000) hereditary motor and sensory demyelinating peripheral neuropathy (also known as Hereditary Motor and Sensory Neuropathy, HMSN) which is caused by an intrachromosomal duplication and consecutive toxic ...
Charcot-Marie-Tooth (CMT) disease is a group of genetic disorders that affects movement and feeling in the limbs. The disease progresses slowly and causes damage to the peripheral nerves. These nerves control muscles and transmit sensation. CMT is classified as follows:
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Studying the function and malfunction of genes and proteins associated with inherited forms of peripheral neuropathies has provided multiple clues to our understanding of myelinated nerves in health and disease. Here, we have generated a mouse model for the peripheral neuropathy Charcot-Marie-Tooth disease type 4H by constitutively disrupting the mouse orthologue of the suspected culprit gene FGD4 that encodes the small RhoGTPase Cdc42-guanine nucleotide exchange factor Frabin. Lack of Frabin/Fgd4 causes dysmyelination in mice in early peripheral nerve development, followed by profound myelin abnormalities and demyelination at later stages. At the age of 60 weeks, this was accompanied by electrophysiological deficits. By crossing mice carrying alleles of Frabin/Fgd4 flanked by loxP sequences with animals expressing Cre recombinase in a cell type-specific manner, we show that Schwann cell-autonomous Frabin/Fgd4 function is essential for proper myelination without detectable primary contributions ...
Studying the function and malfunction of genes and proteins associated with inherited forms of peripheral neuropathies has provided multiple clues to our understanding of myelinated nerves in health and disease. Here, we have generated a mouse model for the peripheral neuropathy Charcot-Marie-Tooth disease type 4H by constitutively disrupting the mouse orthologue of the suspected culprit gene FGD4 that encodes the small RhoGTPase Cdc42-guanine nucleotide exchange factor Frabin. Lack of Frabin/Fgd4 causes dysmyelination in mice in early peripheral nerve development, followed by profound myelin abnormalities and demyelination at later stages. At the age of 60 weeks, this was accompanied by electrophysiological deficits. By crossing mice carrying alleles of Frabin/Fgd4 flanked by loxP sequences with animals expressing Cre recombinase in a cell type-specific manner, we show that Schwann cell-autonomous Frabin/Fgd4 function is essential for proper myelination without detectable primary contributions ...
May 4, 2016. Information on early-onset peripheral neuropathy, a disease VA. evidence to suggest that neuropathy of acute or subacute onset may be.. Clinical Professor, Department of Medical Oncology, Prince of Wales Hospital, Australia and Prince of Wales Clinical School, University of New South Wales.. Small Fiber Sensory Peripheral Neuropathy View FAQs and learn more from Cleveland Clinic about diagnosing small fiber sensory neuropathy with skin biopsies. Find additional resources and staff. Feb 27, 2015. In the last few years weve seen. Mar 19, 2014. Peripheral myelin protein 22 (PMP22)Charcot-Marie-Tooth disease type 1A. Neuropathy type III) is a hereditary neuropathy with early onset and severe presentation. Typically, CIDP shows a subacute or fluctuating course, multi- focal. Although not being a typical transient nerve palsy, sensorineural.. Disorders. All Disorders. NINDS Binswangers Disease Information Page; NINDS Brachial Plexus Injuries Information Page; NINDS Brown-Sequard ...
CHICAGO, IL--(Marketwired - Apr 21, 2015) -  The Charcot-Marie-Tooth Association (CMTA) announced today that it has entered into a collaboration with Affectis Pharmaceuticals AG to evaluate the efficacy of advanced Affectis compounds in neurological and behavioral models of CMT1A. Affectis is a therapy development company and, since 2013, a fully...
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms).
Charcot-Marie-Tooth disease line made from a never-frozen donated embryo.. The University of Michigans second human embryonic stem cell line has just been placed on the U.S. National Institutes of Healths registry, making the cells available for federally-funded research. It is the second of the stem cell lines derived at U-M to be placed on the registry.. The line, known as UM11-1PGD, was derived from a cluster of about 30 cells removed from a donated five-day-old embryo roughly the size of the period at the end of this sentence. That embryo was created for reproductive purposes, tested and found to be affected with a genetic disorder, deemed not suitable for implantation, and would therefore have otherwise been discarded when it was donated in 2011.. It carries the gene defect responsible for Charcot-Marie-Tooth disease, a hereditary neurological disorder characterized by a slowly progressive degeneration of the muscles in the foot, lower leg and hand. CMT, as it is known, is one of the most ...
daily life may be affected by one thing. Growing up I did not realise how much pain I was in, it had always been my normal so I thought that living with pain was normal for everyone. There was a moment in my early 20s when I finally admitted to myself that I couldnt cope with the level of pain I had on a daily basis. It was only from this point that I began to realise that daily pain wasnt normal at all. The main type of pain that I get from CMT is nerve pain, particularly in my feet. Mostly it is a stabbing pain, like a hot knife is penetrating my feet over and over and over, or burning pain, where my feet can feel like they are on fire and cramping at the same time. They ache all the time because of the extra effort for the muscles to work and I have muscular-skeletal pain from the bones dislocating and muscle imbalances ...
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Function Neuregulin 2 (NRG2) is a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ErbB family of receptors, NRG2 induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1 (NRG1), another member of the neuregulin family of ligands. NRG1 and NRG2 mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. The gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcripts encoding distinct isoforms have been described.[1] ...
Inherited neuropathies cannot be prevented at present unless affected parents choose not to have children. Because CMT does not usually affect life span, intellect, or independent living, most patient... more
Hereditary Sensory and Motor Neuropathy: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Mourier et al. reveal that the mitochondrial fusion protein Mitofusin 2 (MFN2) is required to maintain production of the respiratory chain cofactor coenzyme Q.. The closely related GTPases MFN1 and MFN2 are both required for mitochondrial outer membrane fusion. Mfn1-deficient mice nevertheless seem perfectly healthy, but mice lacking Mfn2 die soon after birth. Moreover, only Mfn2 has been linked to human diseases, including the peripheral neuropathy Charcot-Marie-Tooth type 2A. Mourier et al. therefore investigated whether loss of Mfn2 affects mitochondrial function in other ways besides membrane fusion.. The researchers found that mitochondrial respiration and ATP production was impaired in Mfn2-deficient cardiomyocytes compared with wild-type and Mfn1-deficient cells. The levels and activities of individual respiratory chain protein complexes were unaltered in mitochondria lacking Mfn2, but the levels of coenzyme Q, an electron carrier that transfers electrons to respiratory chain complex III, ...
Learn more about Enfermedad de Charcot-Marie-Tooth at Reston Hospital Center DefiniciónCausasFactores de riesgoSíntomasDiagnósticoTratamientoPrevenció...
Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895]: An autosomal dominant neuropathy of the Charcot-Marie-Tooth disease group, characterized by distal muscle weakness and atrophy variably affecting the lower and upper limbs. Distal sensory impairment and decreased nerve conduction velocities are present in most but not all patients. Additional variable features are age-related macular degeneration, joint hypermobility, and hyperelastic skin. {ECO:0000269,PubMed:21576112, ECO:0000269,PubMed:23328402}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Dr. Cordero responded: CHARCOT MARIE TOOTH . Hereditary neuropathies type 1and 2 are the most common. Sx are weakness and atrophy of distal leg muscles, slowly progressive to adulthood.They usually wear leg |a href="/topics/braces" track_data="{
Oh my giddy aunt. Charcot-Marie-Tooth. When I was diagnosed, I too thought it might be useful to do some research. As it happens, with all the variations and other features, it seems to be an absolute goldmine for PhD candidates. All over the place, there are families and localities with their own barely discernible, finely calibrated differences from other families and other localities. By the time Id got through about 40 papers discussing half a dozen or a couple of hundred individuals and their associated genetic abnormalities, I thought Id had enough. Unless you go the whole hog as Kim Goodsell has done, there seems to be no way to find out what your own particular condition has in store for you. My diagnosis was for the Hereditary Neuropathy with Pressure Palsies version, not the classic Charcot-Marie-Tooth. So how come I had the whole deformed toes, ludicrous instep and wasting leg muscles of the "classic" diagnosis? As well as seeing my fathers hands deteriorate into the distinctive ...
Madison have found a switch that redirects helper cells in the peripheral nervous system into "repair" mode, a form that restores damaged axons.. Axons are long fibers on neurons that transmit nerve impulses. The peripheral nervous system, the signaling network outside the brain and spinal cord, has some ability to regenerate destroyed axons, but the repair is slow and often insufficient.. The new study suggests tactics that might trigger or accelerate this natural regrowth and assist recovery after physical injury, says John Svaren, a professor of comparative biosciences at the UW-Madison School of Veterinary Medicine. The finding may also apply to genetic abnormalities such as Charcot-Marie-Tooth disease or nerve damage from diabetes.. Svaren, senior author of a report published Aug. 30 in The Journal of Neuroscience, studied how Schwann cells, which hug axons in the peripheral nervous system, transform themselves to play a much more active and "intelligent" role after injury.. Schwann cells ...
The team has discovered that a protein previously identified on mitochondria - the energy factories of the cell - is also found on the fat-metabolising organelles peroxisomes, suggesting a closer link between the two organelles.. Charcot-Marie-Tooth disease is currently incurable and affects around one in every 2,500 people in the UK, meaning that it is one of the most common inherited neurological disorders, thus understanding the molecular basis of the disease is of great importance. Symptoms can range from tremors and loss of touch sensation in the feet and legs to difficulties with breathing, swallowing, speaking, hearing and vision.. The research published online in EMBO Reports combines work from University of Exeter Biosciences researcher Dr Michael Schrader and PhD student Sofia Guimaraes. The major finding of the study is that the protein GDAP1, originally thought to only be involved in fragmentation of mitochondria, also contributes to the regulation of peroxisome number through their ...
Randal Richardson, MD, is a pediatric neurologist at Gillette who specializes in caring for patients who have conditions such as neuromuscular disorders, Duchenne muscular dystrophy, spinal muscular atrophy and Charcot-Marie-Tooth disease.
MDA-supported research in Charcot-Marie-Tooth disease is focused on figuring out what goes wrong at the molecular level in CMT-affected axons or the myelin sheaths that surround them, rather than on attempting to fix the problem directly or preserving nerve function in spite of it. A central theme emerging from the last decade of research is that myelin and axons require constant signals from... ...
My research is primarily concerned with the biology of myelin in the central and peripheral nervous systems in health and disease. Several neurological conditions, such as multiple sclerosis and Charcot-Marie-Tooth disease, result from damage to myelin, and a failure of the endogenous myelin repair mechanisms. Therefore, a particular focus of our work is investigating the process of myelin formation, both in development and repair, and the development of novel therapeutic agents to enhance this process ...
JOHN A. MASTROPIETRO, CHAIRMAN. The Second Injury Fund has petitioned for review from the June 24, 1999 Finding and Award of the Commissioner acting for the Fifth District. The Fund contends on appeal that the trier erred by finding that there was no controversy regarding the existence of a previous disability in this case, thereby substituting his own judgment for that of the medical panel established by § 31-349c. We disagree with this argument, and affirm the trial commissioners decision.. As per a February 6, 1995 Finding and Award, the claimant is entitled to workers compensation for an occupational disease-a severe nerve disorder known as distal symmetric sensimotor polyneuropathy. Although it appears that she has long suffered from an underlying genetic neuropathy called Charcot-Marie-Tooth Disease, Type II (CMT II), her condition was dormant until she was exposed to neurotoxic chemicals at her employers workplace. Dr. Grey, the claimants treating physician, had opined that her ...
It is a far stretch, but could you possibly mean Jacob Meyer = Charcot-Marie as in Charcot-Marie-Tooth disease? It is a hereditary neurological problem, but affects the peripheral nervous system (weakness and atrophy in peroneal and leg muscles) and not the cerebellum. ,hummerlady at my-deja.com, wrote in message news:86tm0j$8cv$1 at nnrp1.deja.com... , Can someone help me with the correct name of a genetic brain disorder , called Jacob Meyer or something close to that. It causes the , cerebellum to atrophy. My new neurologist feels that the radiation I , received as an infant is not as responsible for my medical condition as , a more probable genetic disease process. I want to research it but I , dont have the correct name. Is anyone familiar with it? I posted , before saying my diagnosis was Cerebellar Brain Degeneration. Thanks. , Gloria , , , Sent via Deja.com http://www.deja.com/ , Before you buy. ...
Disease, Patients, DNA, Woman, Gene, Mutation, Tooth, Treatment, Bradykinin, Plasminogen, Mitochondrial Disease, Mitochondrial DNA, Mother, Myopathy, Charcot-marie-tooth Disease, Mutations, Myelin, Patient, Polyneuropathy, Tooth Disease
When a virus infects a cell, its goal is to make more virus particles. To do this, a virus takes over the cells protein making machinery (the ribosome), so that the cell essentially becomes a viral protein factory. It does this by using an internal ribosome entry site (IRES); which shuts down and bypasses the normal mechanisms that regulate binding of messenger RNAs to ribosomes. While many viral messenger RNAs are known to possess an IRES, few normal cellular RNAs do. Abnormal IRES regulation has been correlated with two human diseases- multiple myeloma and Charcot-Marie-Tooth disease. This is the first time that scientists have demonstrated that normal nerve cells can use an IRES to produce large quantities of protein under physiological conditions ...
(Medical Xpress)-Investigation by researchers from the University of Exeter and ETH Zurich has shed new light on a protein which is linked to a common neurological disorder called Charcot-Marie-Tooth disease.
There are about 20 000 genes in the human genome. Until recently, clinicians seeking to diagnose a genetic condition have had to select single genes to be sequenced. The process is slow, expensive, and often unsuccessful. Now that the cost of DNA sequencing has fallen so dramatically, its cheaper and easier to sequence the entire genome, with huge potential benefit to our understanding of disease. But this bounty brings with it clinical and ethical questions, as Caroline Wright and colleagues explain (doi:10.1136/bmj.f6845). Who should be tested? How much of the genome should be sequenced? What should patients be told? What do we do about incidental findings? And how should an individuals genomic data be stored? Uppermost in clinicians minds may be the question of how best to interpret the information that is now so abundantly available. It may be easy enough to identify a gene that explains a patients clinical presentation, such as the genetic variant for Charcot-Marie-Tooth disease. But ...
In January, MDA began funding development of the North American CMT Network to provide an infrastructure for clinical research in Charcot-Marie-Tooth disease (CMT) and aid researchers in locating potential participants for clinical studies. An early goal of the network is to establish scoring systems for functional evaluations in children with CMT. ...
Charcot Marie Tooth News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.. ...
A paper published December 4th on the Journal of Clinical Investigation (JCI) website reveals an exciting potential treatment for patients with...
Please support our funding of research into CMT: Donate now, or Support us by raising funds.. You maty also be prepared to volunteer for Research Surveys or Clinical Trials, to further research into CMT, its causes, effects and treatments.. ...
Our mission … to support the development of new drugs to treat CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure.
It is necessary for outcome measures to accurately reflect the state of health of a person in order for clinical trials to show benefit. The most commonly used outcome measure for Charcot Marie Tooth Disease (CMT) is the CMT Neuropathy Score, which uses cutoffs of points designated as mild (0-10 points), moderate (11-20) or severe (21-36). These terms are arbitrary. This study is looking to base mild, moderate, and severe on what both people affected with CMT and those who provide for people with CMT consider appropriate ...
Mutations in a protein called dynein, required for the proper functioning of sensory nerve cells, can cause defects in mice that may provide crucial clues leading to better treatments for a human nerve disorder known as peripheral neuropathy, which affects about three percent of all those over age 60.. Peripheral neuropathy results from damage to the nerves and nerve processes that are located outside the brain and spinal cord. Symptoms include pain in the hands and arms, legs and feet--sometimes constant and quite severe--as well as progressive numbness and weakness in the arms and legs. Despite its prevalence, little is known about the precise causes of the disease or how to prevent or treat it.. In the December 26, 2007, issue of the Journal of Neuroscience, however, researchers at the University of Chicago Medical Center show that mice with mutations in only one copy of a gene coding for one part of dynein protein have severe defects in proprioception, the ability to perceive the spatial ...
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FLNC_HUMAN] Defects in FLNC are the cause of myopathy myofibrillar type 5 (MFM5) [MIM:609524]. A neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations, and clinical features of a limb-girdle myopathy.[1] Defects in FLNC are the cause of myopathy distal type 4 (MPD4) [MIM:614065]. MPD4 is a slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation.[2] ...
Its one of the most common inherited neurological conditions in the world, but most people have never heard of Charcot-Marie-Tooth Syndrome. Sheena Grant reports
LRSAM1小鼠多克隆抗体(ab73113)可与人样本反应并经WB, ELISA实验严格验证,被2篇文献引用。所有产品均提供质保服务,中国75%以上现货。
We report an English kindred affected across 4 generations with a hereditary neuropathy associated with debilitating neuropathic pain as the main clinical feature. The principal finding on clinical examination was sensory loss, and there was variable motor dysfunction. Electrophysiological studies revealed mild features of demyelination with median conduction velocity in the intermediate range. There was an autosomal-dominant pattern of inheritance, and genetic testing revealed a novel heterozygous Trp101X mutation in exon 3 coding for a portion of the extracellular domain of myelin protein zero. This is predicted to lead to premature termination of translation. Myelin protein zero is a key structural component of compact myelin, and over 100 mutations in this protein have been reported, which can give rise to neuropathies with either axonal, demyelinating, or intermediate features encompassing a wide range of severity. Chronic pain is an increasingly recognised sequela of certain hereditary
Charcot-Marie-Tooth disease is an inherited nerve defect that causes abnormalities in the nerves that supply your feet, legs, hands, and arms.
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously ...
The LMNA gene encodes lamins A and C by means of alternative splicing. These proteins are major components of the nuclear lamina, a fibrous network underlying the inner surface of the nuclear envelope (18). Mutations in the lamin A/C gene have been reported in a variety of disorders, such as autosomal dominant and recessive Emery-Dreifuss muscular dystrophy (19,20); limb-girdle muscular dystrophy type 1B (21); autosomal recessive Charcot-Marie-Tooth disease type 2B1 (22); Dunnigan-type familial partial lipodystrophy (23-25); mandibuloacral dysplasia (26); the Hutchinson-Gilford progeria syndrome (27,28); atypical Werners syndrome (29); and lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules (30). Finally, LMNA gene mutations have been identified in patients having IDCM with conduction disease (11) or "pure" DCM (31,32). The exact pathophysiological mechanism of LMNA mutations that lead to such an impressive heterogeneous spectrum of disorders ...
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011 ...
We studied a CMT2 family in which a mutation in MPZ was found. The complete clinical presentation was a sensorimotor neuropathy with trophic changes, but several points have to be emphasised: a late onset was found in most of the patients. However, the recorded age of onset may be delayed in relation to exact onset due to the lack of objective signs of neuropathy; indeed, walking disability caused by weakness in the limbs only started around the age of 50. When the disease was found earlier (patients II.2 and III.1), diagnosis was based only on subjective signs-for example, pains, possibly with Argyll-Robertson-like pupils. Indeed, these were the only abnormalities shown by patient III.1, presently 30 years old.. Argyll-Robertson-like pupils associated with CMT has been previously documented.6 One of the cases reported by these authors belongs to the family described here, (patient I.1), and diagnosed as a patient with neural type CMT with Argyll-Robertson-like pupils. In another family, with ...
Glycyl-tRNA synthetase (GARS) is one of 37 nuclear encoded amino acyl tRNA synthetases that function to attach amino acids onto their respective tRNA for protein translation.44 Since the discovery of GARS as a cause of dHMNV and CMT2D, mutations in three other amino acyl tRNAs have been identified as causes of intermediate CMT (DI-CMTC) (YARS, tyrosyl-tRNA synthetase),45 CMT2N (AARS, alanyl-tRNA synthetase)46 and autosomal recessive CMT2 (RI-CMTB) (KARS, lysyl-tRNA synthetase).47. In 2003, four different GARS mutations were discovered in five families with upper-limb predominant distal motor neuropathy (dHMNV or CMT2D).10 Six additional familial and sporadic cases of dHMN owing to GARS mutations have been reported.48-51 In an extended phenotype/genotype study of the original five families, 75% of affected family members presented in the second decade of life, with the majority functioning independently 40 years after disease onset.52 In one patient, weakness began in the lower limbs, ...
TY - JOUR. T1 - Detection of cytomegalovirus genomes in human skin fibroblasts by DNA hybridization. AU - Williams, L. L.. AU - Blakeslee, J. R.. AU - Boldogh, Istvan. AU - Huang, E. S.. PY - 1980. Y1 - 1980. N2 - A previous isolation of a human cytomegalovirus (CMV) from fibroblasts derived from intact skin of a Charcot-Marie-Tooth disease patient has prompted examination of six blind-coded cultured human skin lines by CMV DNA hybridization. The detection of CMV genome equivalents in three of the lines suggests that, in some cases, intact human skin may be a site of CMV latency.. AB - A previous isolation of a human cytomegalovirus (CMV) from fibroblasts derived from intact skin of a Charcot-Marie-Tooth disease patient has prompted examination of six blind-coded cultured human skin lines by CMV DNA hybridization. The detection of CMV genome equivalents in three of the lines suggests that, in some cases, intact human skin may be a site of CMV latency.. UR - ...
These authors detail the treatment of a 35-year-old patient who presented with chronic pain, longstanding high arches and ankles that
Charcot-Marie-Tooth neuropathy (CMT) is a motor and sensory neuropathy comprising a heterogeneous group of inherited diseases. The CMT1A phenotype is predominant in the 70% of CMT patients, with nerve conduction velocity reduction and hypertrophic demyelination. These patients have elevated oxidative stress and chronic inflammation. Currently, there is no effective cure for CMT; herein, we investigated whether melatonin treatment may reduce the inflammatory and oxidative damage in CMT1A patients. Three patients, aged 8-10 years, were treated with melatonin (60 mg at 21:00 h plus 10 mg at 09:00 h), and plasma levels of lipid peroxidation (LPO), nitrites (NOx), IL-1β, IL-2, IL-6, TNF-α, INF-γ, oxidized to reduced glutathione (GSSG/GSH) ratio, and the activities of superoxide dismutase (SOD), glutathione-S transferase (GST), glutathione peroxidase (GPx), and reductase (GRd), were determined in erythrocytes at 3 and 6 months of treatment. Healthy age- and sex-matched subjects were used as controls. The
Accumulating evidence demonstrates that defects in NMJs are associated with various types of neuromuscular disorders, including myasthenia, motor neuron degeneration, and sarcopenia, an age‐related muscle atrophy (Deschenes et al, 2010; Murray et al, 2010; Sleigh et al, 2014). For example, patients with ALS, including one carrying a SOD1 mutation, manifested NMJ defects, even when biopsied at the early symptomatic stage (Bruneteau et al, 2015). Consistent with this, mouse models of ALS with SOD1, TDP43, FUS, or C9ORF72 mutations also display NMJ defects (Dadon‐Nachum et al, 2011; Arnold et al, 2013; Liu et al, 2016; Sharma et al, 2016). In addition, mouse models of neurodegenerative diseases including spinal muscular atrophy and Charcot-Marie-Tooth disease type 2D show NMJ abnormalities (Murray et al, 2010; Sleigh et al, 2014). Furthermore, denervation at the NMJ occurs before myofiber atrophy in sarcopenia model rats (Deschenes et al, 2010), highlighting the NMJ as an attractive therapeutic ...
This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010 ...
dra mary reilly 39 neuropat as perif ricas hereditarias 39, geometry net health conditions books hereditary sensory, charcot marie tooth disease, hereditary motor and sensory neuropathies hmsn i e,
NMD-chip is a scientific project funded by the European Union under its Seventh Framework Programme (FP7). Its aim is to design, develop and validate new sensitive high-throughput DNA microarrays (gene chips) to diagnose patients affected by neuromuscular disorders.. Within the project, chips are being designed for the diagnosis of Duchenne / Becker muscular dystrophies (DMD/BMD), limb girdle muscular dystrophies (LGMD), congenital muscular dystrophies (CMD), and hereditary motor-sensory neuropathies or Charcot-Marie-Tooth neuropathies (CMT).. Additionally, candidate gene chips are being developed to look for mutations in patients who have a neuromuscular disorder where the disease-causing mutation has not yet been discovered.. NMD-chip was launched in 2008 and the project is now entering its final phase, with its official end date being 31 September 2010. At the penultimate Steering Committee meeting held in Budapest in March, project partners gathered for a progress update and an analysis ...
The thickness of the myelin sheath that insulates axons is fitted for optimal nerve conduction velocity. Here, we show that, in Schwann cells, mammalian disks large homolog 1 (Dlg1) interacts with PTEN (phosphatase and tensin homolog deleted on chromosome 10) to inhibit axonal stimulation of myelination. This mechanism limits myelin sheath thickness and prevents overmyelination in mouse sciatic nerves. Removing this brake results also in myelin outfoldings and demyelination, characteristics of some peripheral neuropathies. Indeed, the Dlg1 brake is no longer functional in a mouse model of Charcot-Marie-Tooth disease. Therefore, negative regulation of myelination appears to be essential for optimization of nerve conduction velocity and myelin maintenance.. ...
Hip. In the midlumbar (L3 and 4) myelomeningocoele paralytic sub- or dislocation of the hip occurs due to muscle imbalance. Absent abductors (gluteus medius L5) and extensors (gluteus maximus SI) with unopposed adductors and flexors result in forces pushing the hip laterally and superiorly. Secondary bony changes (increased valgus and ante-version of the femoral neck and acetabular dysplasia) result in hip suband dislocation. This mechanism is also responsible for the hip instability in cerebral palsy, Charcot-Marie-Tooth neuropathy and polio. Sharrard described the posterolateral iliopsoas transfer in 1964.13 He and other authors felt that this transfer with or without bony surgery (varus derotation osteotomy of the femoral neck and acetabuloplasty) would result in more hip stability and better walking abilility.14,15. We reviewed 35 midlumbar patients and showed that 86% of L3 and 46% of L4 hips become unstable. Only 33% of the L3 patients walked but l00% of L4 patients walked. Walking ability ...
Hip. In the midlumbar (L3 and 4) myelomeningocoele paralytic sub- or dislocation of the hip occurs due to muscle imbalance. Absent abductors (gluteus medius L5) and extensors (gluteus maximus SI) with unopposed adductors and flexors result in forces pushing the hip laterally and superiorly. Secondary bony changes (increased valgus and ante-version of the femoral neck and acetabular dysplasia) result in hip suband dislocation. This mechanism is also responsible for the hip instability in cerebral palsy, Charcot-Marie-Tooth neuropathy and polio. Sharrard described the posterolateral iliopsoas transfer in 1964.13 He and other authors felt that this transfer with or without bony surgery (varus derotation osteotomy of the femoral neck and acetabuloplasty) would result in more hip stability and better walking abilility.14,15. We reviewed 35 midlumbar patients and showed that 86% of L3 and 46% of L4 hips become unstable. Only 33% of the L3 patients walked but l00% of L4 patients walked. Walking ability ...
... is a common disorder that can be caused by other medical conditions such as diabetes, renal failure, alcoholism, adverse effects of drugs, and certain immune disorders, to name a few. Having a close relative with peripheral neuropathy caused by another condition does not affect your risk of getting peripheral neuropathy, unless of course, you have the same predisposing disease.. Some peripheral neuropathies, however, have a hereditary cause. The most common hereditary neuropathy is called Charcot-Marie-Tooth (CMT) disease. There are various forms of CMT caused by different genetic mutations. Generally speaking, CMT causes neuropathy onset at a young age, usually below the age of 20. Its onset is gradual and it slowly progresses over decades. It usually presents with weakness and muscle wasting beginning in the feet, and over time progressing more proximally to the legs, then the thighs, hands and forearms. As well as muscle weakness and wasting, the feet usually develop ...
Pat is a 69-year-old woman with Charcot-Marie-Tooth disease, or CMT. She had been experiencing the effects of CMT for more than thirty years, and her progressive motor sensory neuropathy had become severe enough to interfere with every aspect of her life. She could no longer play piano, balance well enough to climb up steps or get dressed easily or summon the energy to work for more than a couple of hours before taking a rest break. Pats form of CMT is CMT1A, which is the most common form of this autosomal dominant condition. Her symptoms were typical of CMT; patients typically endure progressive muscle wasting and weakness in the legs, and a later loss of hand strength, balance, coordination and fine motor skills.. Pats neurological disorder is hereditary, and the official position of the National Institute of Neurological Disorders and Stroke is that CMT has no cure. Decades ago, Pat had gone to a neurologist for electromyography, or EMG. The purpose of the procedure was to evaluate her ...
TY - JOUR. T1 - Hereditary motor and sensory neuropathy type VI with optic atrophy. AU - Voo, Irene. AU - Allf, Bryan E.. AU - Udar, Nitin. AU - Silva-Garcia, Rosamaria. AU - Vance, Jeffery M. AU - Small, Kent W.. PY - 2003/10/1. Y1 - 2003/10/1. N2 - PURPOSE: To present the detailed clinical findings of a large family with hereditary motor and sensory neuropathy type VI (HMSN VI), a syndrome featuring optic atrophy. DESIGN: Observational case series. METHODS: A detailed history was obtained and physical examination was made of the extended family of the proband for evidence of neurologic dysfunction. The OPA1 gene was screened for mutations by direct DNA sequencing. RESULTS: Twelve of 97 family members examined are affected with signs of HMSN VI. Three other members have either optic atrophy or peripheral neuropathy, thus allowing an appreciation of the full clinical spectrum of disease. No mutations were found in the OPA1 gene. CONCLUSIONS: This family demonstrates the variable expressivity of ...
Three metabolic disorders caused by channel mutations have been described: a renal Fanconi syndrome with mutations in NaPi-IIa causing impaired renal phosphate reabsorption (Magen et al., 2010, N Engl J Med 362:1102-09). ATP7A, encoding a copper transporter causing Menkes disease and occipital horn syndrome, can also be the cause of X-Linked Distal Hereditary Motor Neuropathy (Kennerson et al., 2010, Am J Hum Genet 86:343-52). Also, a susceptibility to thyrotoxic hypokaliemic paralysis can be caused by mutations in potassium channel Kir2.6 (Ryan et al., 2010, Cell 140:88-98).. Posted by Philippe Campeau, MD. ...
Ubiquitin carboxyl-terminal hydrolase 6 is an enzyme that in humans is encoded by the USP6 gene. Aneurysmal bone cyst can be associated with a TRE17/USP6 translocation. GRCh38: Ensembl release 89: ENSG00000129204 - Ensembl, May 2017 "Human PubMed Reference:". Puente XS, Sanchez LM, Overall CM, Lopez-Otin C (Jul 2003). "Human and mouse proteases: a comparative genomic approach". Nat Rev Genet. 4 (7): 544-58. doi:10.1038/nrg1111. PMID 12838346. Hoogendijk JE, Hensels GW, Gabreels-Festen AA, Gabreels FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F, et al. (May 1992). "De-novo mutation in hereditary motor and sensory neuropathy type I". Lancet. 339 (8801): 1081-2. doi:10.1016/0140-6736(92)90668-S. PMID 1349106. "Entrez Gene: USP6 ubiquitin specific peptidase 6 (Tre-2 oncogene)". Ye Y, Pringle LM, Lau AW, et al. (June 2010). "TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NFκB". Oncogene. 29 (25): ...
Patients with neuromuscular disorders, such as poliomyelitis and Charcot-Marie-Tooth disease, frequently suffer from weakness or paresis of the calf muscles. Gait in calf muscle weakness is often characterised by excessive ankle dorsiflexion and persistent knee flexion during stance and by a reduced ankle push-off.1 These gait deviations nearly always lead to walking limitations such as instability,2 pain,3 ,4 reduced speed5 ,6 and an increased walking energy cost (EC),5-7 which may restrict walking activity in daily life.8-10. In normal gait, the calf muscles (gastrocnemius and soleus) prevent excessive ankle dorsiflexion, as the ground reaction force progresses over the foot in late stance. They create an eccentric force to restrain inclination of the shank,11 ,12 preventing the ankle from collapsing in uncontrolled dorsiflexion. This is followed by a concentric contraction of the calf muscles during push-off, which assists in propelling the limb forward into swing and inducing knee flexion.11 ...
Human immunodeficiency virus (HIV) is able to enter from the periphery to the central nervous system, triggering neurocognitive impairment which can be asymptomatic, mild cognitive and motor impairment or in a few cases severe dementia. With the availability and efficacy of antiretroviral therapy, HIV patients have a better quality of life. However, HIV-associated neurocognitive disorders (HAND) still prevail in near 50% of the treated patients. In this study, we used ELISA to measure neurofilament light chain (NF-L) and neopterin, as markers of neuronal injury and immune activation, respectively. We used plasma and cerebrospinal (CSF) samples obtained from HIV-seropositive (HIV+) patients (n=35) at different stages of HAND, compared to HIV-seronegative controls (n=10). HIV+ patients were subjected to standard laboratory tests (including viral load and CD4+ cell count) and neuropsychological tests (eight domains). Statistical tests included Mann-Whitney, Kruskal-Wallis and Spearmans ...
TY - JOUR. T1 - Sural nerve biopsy in peripheral neuropathies. T2 - 30-year experience from a single center. AU - Luigetti, Marco. AU - Di Paolantonio, Andrea. AU - Bisogni, Giulia. AU - Romano, Angela. AU - Conte, Amelia. AU - Barbato, Francesco. AU - Del Grande, Alessandra. AU - Madia, Francesca. AU - Rossini, Paolo Maria. AU - Lauretti, Liverana. AU - Sabatelli, Mario. PY - 2019/10/24. Y1 - 2019/10/24. N2 - INTRODUCTION: Nerve biopsy has been widely used to investigate patients with peripheral neuropathy, and in many centers, it is still a useful diagnostic tool in this setting. In this study, we reviewed the histopathological spectrum of the nerve biopsies performed in our center in a 30-year period and we analyzed their relevance in the clinical setting.MATERIALS AND METHODS: Retrospective analysis of the retrieved data was done for cases of nerve biopsies performed in our institute between 1988 and 2018. Surgical technique and histopathological analysis were done accordingly to standard ...
Inherited neuromuscular disorders are a diverse group of diseases with heterogeneous genetic causes that affect the peripheral nervous system. The age of onset for these disorders ranges from in utero to old age. Based on the pattern of inheritance; clinical presentation; nerve conductions including, electromyography (EMG) pattern, and muscle and nerve biopsy findings; inherited neuromuscular disorders can be divided into major categories. These categories include muscular dystrophies, congenital muscular dystrophies, congenital myopathies, distal myopathies, ion channel hyperexcitable muscle diseases, metabolic myopathies, congenital myasthenic syndromes, hereditary motor and sensory neuropathies, hereditary motor neuropathies, motor neuron disorders, hereditary spastic paraplegias, and hereditary sensory neuropathies. Due to the considerable overlap in the clinical phenotypes of various neuromuscular disorders, it is often difficult to distinguish these specific inherited disorders from ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Hereditary sensory and autonomic neuropathy type 1E

Charcot-Marie-Tooth Disease DiagnosisCharcot-Marie-Tooth Disease Diagnosis

... disease is an inherited neurological condition that involves muscle weakness and numbness. Symptoms usually present between the ... Charcot-Marie-Tooth Disease Diagnosis. News-Medical. https://www.news-medical.net/health/Charcot-Marie-Tooth-Disease-Diagnosis ... www.nhs.uk/Conditions/Charcot-Marie-Tooth-disease/Pages/Diagnosis.aspx. *http://patient.info/doctor/charcot-marie-tooth-disease ... Charcot-Marie-Tooth Disease Diagnosis. News-Medical. 21 August 2019. ,https://www.news-medical.net/health/Charcot-Marie-Tooth- ...
more infohttps://www.news-medical.net/health/Charcot-Marie-Tooth-Disease-Diagnosis.aspx

Charcot-Marie-Tooth Disease | HealthCentralCharcot-Marie-Tooth Disease | HealthCentral

Definition Charcot-Marie-Tooth disease (CMT) is a progressive motor and sensory neuropathy (nerve disorder) characterized by ... Charcot-Marie-Tooth disease is named for French neurologists Jean M. Charcot and Pierre Marie, and British neurologist Howard ... Charcot-Marie-Tooth disease (CMT) is a progressive motor and sensory neuropathy (nerve disorder) characterized by weakness and ... There is no known cure for Charcot-Marie-Tooth disease. However, physical therapists and orthopedists can treat the deformities ...
more infohttps://www.healthcentral.com/encyclopedia/charcot-marie-tooth-disease

Charcot-Marie-Tooth Disease | CMT | MedlinePlusCharcot-Marie-Tooth Disease | CMT | MedlinePlus

Charcot-Marie-Tooth disease, CMT affects your peripheral nerves. Interrupting messages to your brain about things around you, ... Charcot-Marie-Tooth disease (National Library of Medicine) * Learning about Charcot-Marie-Tooth Disease (National Human Genome ... Charcot-Marie-Tooth Disease (National Institute of Neurological Disorders and Stroke) Also in Spanish ... Charcot-Marie-Tooth and Related Diseases (Muscular Dystrophy Association) - PDF Also in Spanish ...
more infohttps://medlineplus.gov/charcotmarietoothdisease.html

Charcot-Marie-Tooth disease: MedlinePlus Medical EncyclopediaCharcot-Marie-Tooth disease: MedlinePlus Medical Encyclopedia

Charcot-Marie-Tooth disease is a group of disorders passed down through families that affect the nerves outside the brain and ... Charcot-Marie-Tooth disease slowly gets worse. Some parts of the body may become numb, and pain can range from mild to severe. ... Charcot-Marie-Tooth disease is a group of disorders passed down through families that affect the nerves outside the brain and ... Charcot-Marie-Tooth is one of the most common nerve-related disorders passed down through families (inherited). Changes to at ...
more infohttps://medlineplus.gov/ency/article/000727.htm

Noncompaction Cardiomyopathy with Charcot-Marie-Tooth DiseaseNoncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease

... valvular heart disease, vascular disease, congenital heart disease and cardiomyopathy. ... Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease. Sherif Ali Eltawansy,1 Andrea Bakos,2 and John Checton1,3 ... Sherif Ali Eltawansy, Andrea Bakos, and John Checton, "Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease," Case ...
more infohttps://www.hindawi.com/journals/cric/2015/646890/cta/

Noncompaction Cardiomyopathy with Charcot-Marie-Tooth DiseaseNoncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease

... valvular heart disease, vascular disease, congenital heart disease and cardiomyopathy. ... Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease. Sherif Ali Eltawansy,1 Andrea Bakos,2 and John Checton1,3 ... Our case had a history of Charcot-Marie-Tooth disease. There is a high incidence of arrhythmia and embolic complications. The ... Noncompaction cardiomyopathy (also known as ventricular hypertrabeculation) is a newly discovered disease. It is considered to ...
more infohttps://www.hindawi.com/journals/cric/2015/646890/abs/

Charcot-Marie-Tooth Disease: Background, Pathophysiology, EtiologyCharcot-Marie-Tooth Disease: Background, Pathophysiology, Etiology

... disease is the most common inherited neurologic disorder. CMT is characterized by inherited neuropathies without known ... Charcot-Marie-Tooth Disease) and Charcot-Marie-Tooth Disease What to Read Next on Medscape. Related Conditions and Diseases. * ... This disease was referred to as Hoffman disease and later was known as Charcot-Marie-Tooth-Hoffman disease. ... Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A ...
more infohttps://emedicine.medscape.com/article/1232386-overview

Charcot Marie Tooth Disease (CMT) - Neuromuscular DiseasesCharcot Marie Tooth Disease (CMT) - Neuromuscular Diseases

Charcot Marie Tooth actually refers a group of genetic diseases that affect the peripheral nervous system. - Charcot Marie ... Charcot Marie Tooth A funny name, but for the estimated 2.6 million people worldwide who have CMT, including myself, it s no ... BellaOnlines Neuromuscular Diseases Editor. Charcot Marie Tooth Disease (CMT). Charcot Marie Tooth A funny name, but for the ... Charcot Marie Tooth Association, (2010; updated 3/13/15). An Overview of Charcot Marie Tooth Disorders. Retrieved on 6/26/15 ...
more infohttp://www.bellaonline.com/articles/art30170.asp

Charcot-Marie-Tooth disease - WikipediaCharcot-Marie-Tooth disease - Wikipedia

GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy OverviewCharcot-Marie-Tooth Neuropathy Type 1Charcot-Marie-Tooth ... For other diseases, see Charcot disease (disambiguation).. Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and ... Charcot-Marie-Tooth Association. October 6, 2010. Retrieved August 26, 2011.. *^ "Charcot-Marie-Tooth Syndrome. CMT information ... Neuropathy X Type 5Charcot-Marie-Tooth Neuropathy X Type 1GARS-Associated Axonal Neuropathy, Charcot-Marie-Tooth Neuropathy ...
more infohttps://en.m.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease

Charcot-Marie-Tooth disease, Information about Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease, Information about Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is the name for a group of inherited disorders of nerve conduction causing weakness and mild ... CMT is named for the three neurologists who first described it, and does notinvolve the teeth in any way. It is also known as ... Expression of the gene does occur in women to a lesser extent, leading to disease of variable severity. Affected men may pass ... In this pattern, only one defectivegene copy is needed to develop the disease, which may be inherited from either parent (who ...
more infohttp://www.faqs.org/health/topics/49/Charcot-Marie-Tooth-disease.html

Charcot-Marie-Tooth disease symptoms, treatments & forums | PatientsLikeMeCharcot-Marie-Tooth disease symptoms, treatments & forums | PatientsLikeMe

291 patients with Charcot-Marie-Tooth disease experience fatigue, pain, depressed mood, anxious mood, and insomnia and use ... Find the most comprehensive real-world symptom and treatment data on Charcot-Marie-Tooth disease at PatientsLikeMe. ... and Buspirone to treat their Charcot-Marie-Tooth disease and its symptoms. ... 35 Charcot-Marie-Tooth disease patients report mild pain (28%). * 20 Charcot-Marie-Tooth disease patients report no pain (16%) ...
more infohttps://www.patientslikeme.com/conditions/283-charcot-marie-tooth-disease

Charcot-Marie-Tooth disease classifications - WikipediaCharcot-Marie-Tooth disease classifications - Wikipedia

Classifications of Charcot-Marie-Tooth disease refers to the types and subtypes of Charcot-Marie-Tooth disease (CMT), a ... 1997). "New Mutations in the X-Linked Form of Charcot-Marie-Tooth Disease". European Neurology. 37 (1): 38-42. doi:10.1159/ ... Note that different mutations of GJB1 may produce markedly different forms of Charcot-Marie-Tooth disease. ... Retrieved from "https://en.wikipedia.org/w/index.php?title=Charcot-Marie-Tooth_disease_classifications&oldid=940545241" ...
more infohttps://en.m.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease_classifications

Research simplifies diagnosis of Charcot-Marie-Tooth diseaseResearch simplifies diagnosis of Charcot-Marie-Tooth disease

... 24.07.2006. Hereditary Charcot-Marie-Tooth (CMT) disease strikes ... Charcot-Marie-Tooth (CMT) disease is the most common hereditary disorder of the peripheral nervous system, leading to a ... This is important for assessing what the further course of the disease might be for a given patient. But it is also important ... This innovative approach using artificial organelles as cellular implants offers new potential in treating a range of diseases ...
more infohttp://www.innovations-report.com/html/reports/life-sciences/report-68088.html

Charcot-Marie-Tooth Disease | Johns Hopkins Medicine Health LibraryCharcot-Marie-Tooth Disease | Johns Hopkins Medicine Health Library

Charcot-Marie-Tooth disease (CMT) is a group of conditions also known as hereditary motor and sensory neuropathy. CMT develops ... What is Charcot-Marie-Tooth disease?. Charcot-Marie-Tooth disease is an inherited nerve defect that causes abnormalities in the ... What are the complications of Charcot-Marie-Tooth disease?. Charcot-Marie-Tooth is not a fatal disease, and most people live to ... How is Charcot-Marie-Tooth disease treated?. There is no cure for Charcot-Marie-Tooth, but these treatment options can help:. * ...
more infohttps://www.hopkinsmedicine.org/healthlibrary/conditions/adult/nervous_system_disorders/charcot-marie-tooth_disease_134,224

Charcot-Marie-Tooth Disease Information and Facts - Disabled WorldCharcot-Marie-Tooth Disease Information and Facts - Disabled World

Charcot-Marie-Tooth Disease or CMT is a slow progression of weakness in the muscles as well as atrophy or wasting in the feet ... Reference Title: "Charcot-Marie-Tooth Disease Information and Facts", Source: Charcot-Marie-Tooth Disease Information and Facts ... Defining Charcot-Marie-Tooth Disease. Charcot-Marie-Tooth Disease (CMT) is also referred to as, Hereditary Motor and Sensory ... Outline: Charcot-Marie-Tooth Disease or CMT is a slow progression of weakness in the muscles as well as atrophy or wasting in ...
more infohttps://www.disabled-world.com/disability/types/mobility/charcot-marie-tooth-disease.php

Charcot-Marie-Tooth Disease Clinical Presentation: History, Physical Examination, ComplicationsCharcot-Marie-Tooth Disease Clinical Presentation: History, Physical Examination, Complications

... disease is the most common inherited neurologic disorder. CMT is characterized by inherited neuropathies without known ... encoded search term (Charcot-Marie-Tooth%20Disease) and Charcot-Marie-Tooth Disease What to Read Next on Medscape. Medscape ... Charcot-Marie-Tooth Disease Clinical Presentation. Updated: Aug 03, 2017 * Author: Divakara Kedlaya, MBBS; Chief Editor: Vinod ... Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol ...
more infohttps://emedicine.medscape.com/article/1232386-clinical

Search of: Charcot-Marie-Tooth Disease - List Results - ClinicalTrials.govSearch of: Charcot-Marie-Tooth Disease - List Results - ClinicalTrials.gov

Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT. *Charcot Marie Tooth Disease ... Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611). *Charcot-Marie-Tooth Disease ... Follow up and Observation of Charcot Marie Tooth Disease in Families. *Charcot-Marie-Tooth Disease ... Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease. *Charcot-Marie-Tooth Disease ...
more infohttps://clinicaltrials.gov/ct2/results?term=Charcot-Marie-Tooth+Disease

Charcot-Marie-Tooth Disease -  Health Encyclopedia - University of Rochester Medical CenterCharcot-Marie-Tooth Disease - Health Encyclopedia - University of Rochester Medical Center

Charcot-Marie-Tooth Disease. What is Charcot-Marie-Tooth disease?. Charcot-Marie-Tooth disease is an inherited nerve defect ... What are the complications of Charcot-Marie-Tooth disease?. Charcot-Marie-Tooth is not a fatal disease, and most people live to ... How is Charcot-Marie-Tooth disease treated?. There is no cure for Charcot-Marie-Tooth, but these treatment options can help:. * ... What causes Charcot-Marie-Tooth disease?. Charcot-Marie-Tooth is almost always caused by a gene defect inherited from one or ...
more infohttps://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=134&ContentID=224&redir=urmc.rochester.edu

Charcot-Marie-Tooth disease | Health Encyclopedia | FloridaHealthFinder.govCharcot-Marie-Tooth disease | Health Encyclopedia | FloridaHealthFinder.gov

Charcot-Marie-Tooth disease. Definition. Charcot-Marie-Tooth disease is a group of disorders passed down through families that ... Charcot-Marie-Tooth disease slowly gets worse. Some parts of the body may become numb, and pain can range from mild to severe. ... Charcot-Marie-Tooth is one of the most common nerve-related disorders passed down through families (inherited). Changes to at ... Genetic testing is also available for most forms of the disease.. Treatment. There is no known cure. Orthopedic surgery or ...
more infohttps://www.floridahealthfinder.gov/healthencyclopedia/Health%20Illustrated%20Encyclopedia/1/000727.aspx

Charcot-Marie-Tooth Disease | Winchester HospitalCharcot-Marie-Tooth Disease | Winchester Hospital

... disease is a group of genetic disorders that affects movement and feeling in the limbs. The disease progresses slowly and ... Charcot-Marie-Tooth Disease. Definition. Charcot-Marie-Tooth (CMT) disease is a group of genetic disorders that affects ... Charcot-Marie-Tooth Association. http://www.charcot-marie-tooth.org. National Institute of Neurological Disorders and Stroke. ... Pareyson D. Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Neurol Sci. 2004;25(2):72-82. ...
more infohttp://www.winchesterhospital.org/health-library/article?id=11965

Charcot-Marie-Tooth Disease | Memorial HospitalCharcot-Marie-Tooth Disease | Memorial Hospital

Learn more about Charcot-Marie-Tooth Disease at Memorial Hospital DefinitionCausesRisk ... Charcot-Marie-Tooth (CMT) disease is a group of genetic disorders that affects movement and feeling in the limbs. The disease ... Pareyson D. Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Neurol Sci. 2004;25(2):72-82. ... Reilly MM, Murphy SM, Laurá M. Charcot-Marie-Tooth disease. J Periph Nerv Syst. 2011;16(1):1-14. ...
more infohttps://memorialhospitaljax.com/hl/?/11965/Charcot-Marie-Tooth-Syndrome&com.dotmarketing.htmlpage.language=1

Charcot-Marie-Tooth disease Collection - WiCellCharcot-Marie-Tooth disease Collection - WiCell

Charcot-Marie-Tooth disease type 2A MFN2 Male. No. No. WC011i-CMT2A-1.2 Human iPS. Charcot-Marie-Tooth disease type 2A MFN2 ... Charcot-Marie-Tooth disease type 2A MFN2 Male. No. No. WC013i-CMT2A-2.1 Human iPS. Charcot-Marie-Tooth disease type 2A MFN2 ... Charcot-Marie-Tooth disease type 2A MFN2 Male. Yes. No. WC015i-CMT2A-2.3 Human iPS. Charcot-Marie-Tooth disease type 2A MFN2 ... Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders that comprises a group of ...
more infohttps://www.wicell.org/home/stem-cells/catalog-of-stem-cell-lines/collections/charcot-marie-tooth-disease-collection.cmsx

Charcot-Marie-Tooth Disease (CMT) - Research | Muscular Dystrophy AssociationCharcot-Marie-Tooth Disease (CMT) - Research | Muscular Dystrophy Association

About Charcot-Marie-Tooth Disease (CMT). *Types Of Charcot-Marie-Tooth Disease (CMT)*CMT1 ...
more infohttps://www.mda.org/disease/charcot-marie-tooth/research

Charcot-Marie-Tooth Disease (CMT) - CMTX | Muscular Dystrophy AssociationCharcot-Marie-Tooth Disease (CMT) - CMTX | Muscular Dystrophy Association

What is Charcot-Marie-Tooth disease type X (CMTX)? CMTX is a subtype of CMT, a genetic, neurological disorder that causes ... What is Charcot-Marie-Tooth disease type X (CMTX)?. CMTX is a subtype of CMT, a genetic, neurological disorder that causes ... About Charcot-Marie-Tooth Disease (CMT). *Types Of Charcot-Marie-Tooth Disease (CMT)*CMT1 ...
more infohttps://www.mda.org/disease/charcot-marie-tooth/types/cmtx?page=1

Charcot-Marie-Tooth-Disease-Information-Page | National Institute of Neurological Disorders and StrokeCharcot-Marie-Tooth-Disease-Information-Page | National Institute of Neurological Disorders and Stroke

Charcot-Marie-Tooth-Disease-Information-Page Charcot-Marie-Tooth Disease Information Page. ... Ongoing research on CMT includes efforts to identify more of the mutant genes and proteins that cause the various disease ... Ongoing research on CMT includes efforts to identify more of the mutant genes and proteins that cause the various disease ... Ongoing research on CMT includes efforts to identify more of the mutant genes and proteins that cause the various disease ...
more infohttps://www.ninds.nih.gov/Disorders/All-Disorders/Charcot-Marie-Tooth-Disease-Information-Page/2895/organizations/955
  • This is useful to detect the disease in most individuals who have known mutations, but there are also several unidentified causative genes. (news-medical.net)
  • As CMT can be caused by a number of known gene mutations, expectant couples with a family history the disease may wish to find out if their baby is likely to be affected. (news-medical.net)
  • Researchers from the Flanders Interuniversity Institute for Biotechnology (VIB) connected to the University of Antwerp are now demonstrating that mutations in mitofusin 2 are the major cause of CMT2, a specific type of the disease. (innovations-report.com)
  • The disease can be so mild you don't realize you have it or severe enough to make you weak. (medlineplus.gov)
  • Because of the loss of protective sensation distally in all four limbs, patients with CMT disease are susceptible to skin breakdown or burns, nonhealing foot ulcers, and, in severe cases, bony deformities of bilateral feet. (medscape.com)
  • The disease is characterized by degeneration of the motor and sensory nerves that control movement and feeling in the arm below the elbow and in the leg below the knee. (healthcentral.com)
  • But it is also important for providing genetic advice and prenatal and pre-implantation diagnosis for couples who desire to have children but whose families have a history of the disease. (innovations-report.com)
  • Loss of touch sensation in the feet, ankles, and legs, as well as in the hands, wrists, and arms occurs with various types of the disease. (wikipedia.org)
  • It is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease. (patientslikeme.com)
  • This may be because patients with CMT disease never had normal sensation and, therefore, simply do not perceive their lack of sensation. (medscape.com)
  • In less common cases, an individual will be the first in his or family to have CMT, and the disease is caused by a genetic mutation that spontaneously occurred prior to conception. (bellaonline.com)
  • Some patients develop tremor in the upper limbs as the disease progresses. (faqs.org)
  • Today, only palliative treatment is available - there are as yet no effective therapies for preventing, retarding, or stopping the course of the disease. (innovations-report.com)
  • Therapy studies with diseased rats that were given lecithin in various doses not only showed that a treatment with phospholipids promotes myelination-"It significantly eases the course of the disease regardless of the start of the therapy," explains Ruth Stassart, co-leader of the study. (medicalxpress.com)
  • Early- and late-onset forms occur with 'on and off' painful spasmodic muscular contractions that can be disabling when the disease activates. (wikipedia.org)
  • Expression of the gene does occur in women to a lesser extent, leading to disease of variable severity. (faqs.org)
  • that hand problems in these patients may be underrecognized in the early stages of disease, causing potential delay in therapy. (medscape.com)
  • The disease is typically diagnosed in children, who can lose their ability to walk and use their hands for fine motor skills. (medicalxpress.com)
  • With the advent of genetic testing , it is likely that all of the diseases currently falling under the heading of CMT syndrome will eventually become distinguishable. (medscape.com)