Neuromuscular Diseases
Respiratory Insufficiency
Muscular Dystrophies
Myotonic Dystrophy
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
Muscular Dystrophy, Duchenne
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Tracheostomy
Muscular Atrophy, Spinal
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
Neuromuscular Junction Diseases
Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
Muscular Dystrophy, Facioscapulohumeral
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
Respiratory Therapy
Care of patients with deficiencies and abnormalities associated with the cardiopulmonary system. It includes the therapeutic use of medical gases and their administrative apparatus, environmental control systems, humidification, aerosols, ventilatory support, bronchopulmonary drainage and exercise, respiratory rehabilitation, assistance with cardiopulmonary resuscitation, and maintenance of natural, artificial, and mechanical airways.
Respiration, Artificial
Any method of artificial breathing that employs mechanical or non-mechanical means to force the air into and out of the lungs. Artificial respiration or ventilation is used in individuals who have stopped breathing or have RESPIRATORY INSUFFICIENCY to increase their intake of oxygen (O2) and excretion of carbon dioxide (CO2).
Insufflation
Intermittent Positive-Pressure Ventilation
Masks
Myasthenia Gravis
A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)
Spinal Muscular Atrophies of Childhood
A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
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)
Muscle, Skeletal
Positive-Pressure Respiration
Myography
Ophthalmoplegia
Muscle Weakness
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Amyotrophic Lateral Sclerosis
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
Respiration Disorders
SMN Complex Proteins
A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.
Survival of Motor Neuron 1 Protein
A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
Guillain-Barre Syndrome
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
Cough
Ventilator Weaning
Techniques for effecting the transition of the respiratory-failure patient from mechanical ventilation to spontaneous ventilation, while meeting the criteria that tidal volume be above a given threshold (greater than 5 ml/kg), respiratory frequency be below a given count (less than 30 breaths/min), and oxygen partial pressure be above a given threshold (PaO2 greater than 50mm Hg). Weaning studies focus on finding methods to monitor and predict the outcome of mechanical ventilator weaning as well as finding ventilatory support techniques which will facilitate successful weaning. Present methods include intermittent mandatory ventilation, intermittent positive pressure ventilation, and mandatory minute volume ventilation.
Dystrophin
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
Muscle Fibers, Skeletal
Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation.
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)
Sleep Apnea Syndromes
Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.
Muscular Atrophy
Scoliosis
Mice, Inbred mdx
A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.
Mucus
Respiratory Function Tests
Lower motor neuron disease with accumulation of neurofilaments in a cat. (1/660)
A young cat had signs of tetraparesis that progressed to tetraplegia within a few weeks. Clinically, there was lower motor neuron disease with areflexia and muscle atrophy in all limbs. Degeneration of the motor neurons in the spinal cord was seen on histological examination. Ultrastructurally, the degeneration of nerve cells was characterized by abnormal proliferation of neurofilaments. These findings were compared to other motor neuron diseases and neurofibrillary accumulations in man and animals. (+info)Neuromyotonia: an unusual presentation of intrathoracic malignancy. (2/660)
A 48 year old woman is described who presented with increasing muscular rigidity and who was found to have a mediastinal tumour. Electrophysiological studies revealed that the muscular stiffness resulted from very high frequency motor unit activity which outlasted voluntary effort, and which was abolished by nerve block. The abnormal activity may have arisen at the anterior horn cell level. Marked improvement followed the administration of diphenylhydantoin. (+info)Toxic polyneuropathy of shoe-industry workers. A study of 122 cases. (3/660)
The toxic polyneuropathy observed in a group of shoe-industry workers in Italy was clinically characterised by a symmetrical prevalently distal motor deficit, with occasional marked weakness of pelvic girdle muscles, and frequently by only subjective sensory symptoms; non-specific disturbances usually preceded neurological signs. Subclinical cases of 'minimal' chronic neuropathy, characterised by alterations of a neurogenic type in the EMG without a reduction of motor nerve conduction velocity, were also observed. Worsening of the clinical picture, with further lowering of nerve conduction velocity, was noted in some cases up to four months after removal from the toxic environment. In the most severe cases clinical recovery took up to three years. The electromyographic and electroneurographic features were consistent with a mixed axonal neuropathy, with clear prevalence of the damage in the distal part of the nerve (dying-back neuropathy). Volatile substances, such as n-hexane and other low boiling point hydrocarbons found in high percentage in solvents and glues, are suggested as the causative agent. (+info)The 'MW' sacropelvic construct: an enhanced fixation of the lumbosacral junction in neuromuscular pelvic obliquity. (4/660)
Fixation to the lumbosacral spine to correct pelvic obliquity in neuromuscular scoliosis has always remained a surgical challenge. The strongest fixation of the lumbosacral junction has been achieved with either a Galveston technique with rods or screws or with iliosacral screws. We have devised a new fixation system, in which iliosacral screws are combined with iliac screws. This is made possible by using the AO Universal Spine System with side opening hooks above and below the iliosacral screws and iliac screws below it. The whole sacropelvis is thus encompassed by a maximum width (MW) fixation, which gives an 'M' appearance on the pelvic radiographs and a 'W' appearance in the axial plane. We report on our surgical technique and the early results where such a technique was used. We feel that this new means of fixation (by combining the strongest fixation systems) is extremely solid and should be included in the wide armamentarium of sacropelvic fixation. (+info)Autonomic dysfunction in patients with nocturnal hypoventilation in extrapulmonary restrictive disease. (5/660)
In chronic obstructive pulmonary disease, persistent hypoxia may be associated with autonomic dysfunction. The effect of nocturnal oxygen desaturation on autonomic function in patients with chest wall deformities and neuromuscular disease is unknown. This study examined the effect of nocturnal oxygen desaturation upon heart rate variability, a sensitive measure of autonomic function. Twenty-seven patients with chest wall deformity or neuromuscular disease underwent analysis of overnight oximetry, blood gases, and 24 h heart rate variability (HRV), specifically the standard deviation of normal-to-normal (SDNN) RR intervals, and the number of increases in successive NN intervals >50 ms (SNN50). Subjects were grouped according to nocturnal arterial oxygen saturation (Sa,O2): group 1 had episodes of Sa,O2 <90%, group 2 had Sa,O2 >90% throughout the night, and group 3 were 27 healthy age-matched controls who also underwent HRV analysis. The mean+/-SD SDNN for group 1 was 79.3+/-23.7 ms, less than group 2 (149.8+/-58.9 ms, p<0.02) and group 3 (155.1+/-37.1 ms, p<0.001). The geometric mean sNN50 was less in group 1 than group 2 (1,530 versus 5,843, p<0.01), but not significantly different from group 3 (2,712, p=0.053). There was no significant difference between groups 2 and 3. Within group 1, both SDNN and sNN50 were significantly lower in those patients with more severe nocturnal hypoxia. The minimum overnight Sa,O2 was the best predictor of abnormal HRV. In conclusion, patients with nocturnal hypoxia have evidence of autonomic dysfunction, even in cases with only transient episodes of nocturnal oxygen desaturation. The severity of autonomic dysfunction is related to the degree of nocturnal oxygen desaturation. (+info)Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. (6/660)
Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy. Although three different collagen VI structural mutations have previously been reported, the effect of these mutations on collagen VI assembly, structure, and function is currently unknown. We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain. Sequencing of genomic DNA identified a G to A transition in the +1 position of the splice donor site of intron 14 in one allele. The mutant alpha1(VI) chains associated intracellularly with alpha2(VI) and alpha3(VI) to form disulfide-bonded monomers, but further assembly into dimers and tetramers was prevented, and molecules containing the mutant chain were not secreted. This triple helical deletion thus resulted in production of half the normal amount of collagen VI. To further explore the biosynthetic consequences of collagen VI triple helical deletions, an alpha3(VI) cDNA expression construct containing a 202-amino acid deletion within the triple helix was produced and stably expressed in SaOS-2 cells. The transfected mutant alpha3(VI) chains associated with endogenous alpha1(VI) and alpha2(VI) to form collagen VI monomers, but dimers and tetramers did not form and the mutant-containing molecules were not secreted. Thus, deletions within the triple helical region of both the alpha1(VI) and alpha3(VI) chains can prevent intracellular dimer and tetramer assembly and secretion. These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy. (+info)Expression of selectin families and their ligand sialyl Lewis X in the muscles of inflammatory myopathies: an immunohistochemical study. (7/660)
OBJECT: Adhesion molecules are suggested to play important roles in the pathogenesis of inflammatory diseases. We examined the expression of adhesion molecules in the muscles of human inflammatory myopathies. METHODS: We immunohistochemically studied the expression and distribution of two molecules in the selectin family (E- and P-selectin) and their common ligand sialyl Lewis X in 18 inflammatory myopathies, 13 disease controls, and 16 normal controls. RESULTS: In inflammatory myopathies, E- and P-selectin were upregulated on the surface of blood vessels, especially on the endothelial cells of the venules. Sialyl Lewis X was upregulated in the blood vessels, infiltrating leukocytes, and the surface of some atrophic myofibers. Some control muscles also showed weakly positive staining with these molecules, however, expression of these molecules was most striking in the muscles of inflammatory myopathies. CONCLUSION: The results suggested that these molecules are upregulated in inflammatory myopathies and might play a role in the pathogenesis of inflammatory myopathies. (+info)Progressive myelopathy caused by dural arteriovenous fistula at the craniocervical junction--case report. (8/660)
A 68-year-old male presented an unusual dural arteriovenous fistula (AVF) located at the craniocervical junction. Magnetic resonance imaging revealed dilated perimedullary veins around the spinal cord at C-1 and C-2 levels, as well as high intensity signals in the spinal cord on T2-weighted images. Vertebral angiography identified an AVF at the point where the right vertebral artery penetrates the dura. The fistula was a single and direct communication between the vertebral artery and the spinal vein. Surgical interruption of the fistula at its venous side resulted in prompt improvement of both motor and sensory signs and symptoms. (+info)
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Neuromuscular disease
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal ... Prognosis and management vary by disease.[citation needed] List of neuromuscular disorders Motor neuron diseases Neuromuscular ... Neuromuscular diseases can be acquired or genetic. Mutations of more than 500 genes have shown to be causes of neuromuscular ... Diseases that affect the anterior horn are classified as neuromuscular. Kraker, Jessica; a. Zivkovic, Sasa (2011). "Autoimmune ...
Neuromuscular junction disease
Other diseases include the Lambert-Eaton syndrome and botulism. There are two ways to classify neuromuscular diseases. The ... Neuromuscular junction disease is a medical condition where the normal conduction through the neuromuscular junction fails to ... Neuromuscular junction diseases can also be referred to as end plate diseases or disorders.[citation needed] Among ... Immune-mediated diseases include a variety of diseases not only affecting the neuromuscular junction. Immune-mediated disorders ...
Mary Reilly (academic)
She began to study neuromuscular disease, in particular Charcot-Marie-Tooth disease. In 2004, she found that Vitamin C could be ... With the MRC Centre for Neuromuscular Diseases and Muscular Dystrophy UK, Reilly runs an annual translational neuromuscular ... "Neuromuscular disease". www.uclh.nhs.uk. Retrieved 23 January 2019. Muscular Dystrophy UK, Professor Mary Reilly talks about ... 2017). Neuromuscular Disease. doi:10.1007/978-1-4471-2389-7. ISBN 978-1-4471-2388-0. Mahdi-Rogers, Mohamed; Laurá, Matilde; ...
List of neuromuscular disorders
GSD type II (Pompe disease) GSD type V (McArdle disease) GSD type VII (Tarui disease) GSD type XI (Lactate dehydrogenase ... van Adel, BA; Tarnopolsky, MA (March 2009). "Metabolic myopathies: update 2009". Journal of Clinical Neuromuscular Disease. 10 ... mtDNA deletion Glycogen storage diseases (GSD) are a group of diseases caused by mutations related to glycogen metabolism. ... Mitochondrial myopathies are diseases caused by mutations related to mitochondria, and thus are generally inherited from the ...
Limb-girdle muscular dystrophy
Journal of Neuromuscular Diseases. 2 (s2): S7-S19. doi:10.3233/JND-150105. PMC 5271430. PMID 27858764. Pegoraro, Elena; Hoffman ... "The 2021 version of the gene table of neuromuscular disorders (nuclear genome)". Neuromuscular Disorders. 30 (12): 1008-1048. ... Eventually the disease can affect other muscles such as the ones located in the face. By definition, LGMDs primarily affect ... The disease commonly leads to dependence on a wheelchair within years of symptom onset, although some patients maintain ...
Facioscapulohumeral muscular dystrophy
Journal of Neuromuscular Diseases. 2 (1): 73-85. doi:10.3233/JND-140045. PMID 28198707. Teveroni, E; Pellegrino, M; Sacconi, S ... Ways of measuring the disease are important for studying disease progression and assessing the efficacy of drugs in clinical ... "Use of gold weights to correct lagophthalmos in neuromuscular disease". Neurology. 48 (6): 1500-3. doi:10.1212/wnl.48.6.1500. ... "Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease". Quality of Life Research. 24 (11 ...
Anti-IgLON5 disease
Wenninger S (2017-11-21). "Expanding the Clinical Spectrum of IgLON5-Syndrome". Journal of Neuromuscular Diseases. 4 (4): 337- ... Anti-IgLON5 disease is a neurodegenerative autoimmune disease. It is marked by parasomnias and chorea - an involuntary movement ... Prevalence of the HLA-DRB1*10:01 allele was greatly increased in people with anti-IgLON5 disease. The sleep problems seen in ... Nissen, Mette Scheller; Blaabjerg, Morten (2019). "Anti-IgLON5 Disease: A Case With 11-Year Clinical Course and Review of the ...
Osteitis fibrosa cystica
ISBN 978-0-8053-1840-1. Eberstein, Arthur; Goodgold, Joseph (1983). Electrodiagnosis of Neuromuscular Diseases. Baltimore: ... is credited with finding the first example of the disease. "von Recklinghausen's disease" (without the qualification "of bone ... As the disease progresses, any bone may be affected. OFC may be diagnosed using a variety of techniques. Muscles in patients ... The disease has a definite tendency to affect younger individuals, typically appearing before the age of 40, with a study in ...
Kanneboyina Nagaraju
Journal of Neuromuscular Diseases. 5 (4): 407-417. doi:10.3233/JND-180324. ISSN 2214-3599. PMC 6218134. PMID 30198876. "Center ... Journal of Neuromuscular Diseases. 2 (2): 113-117. doi:10.3233/jnd-140067. ISSN 2214-3599. PMID 27858730. Gordish-Dressman, ... international efforts to improve rigor and reproducibility of preclinical drug trials and phenotyping in neuromuscular disease ... Neuromuscular Disorders. 22 (1): 43-49. doi:10.1016/j.nmd.2011.04.012. ISSN 1873-2364. PMC 3227750. PMID 21737275. Willmann, ...
David Gardner-Medwin
Walton, John (22 July 2015). "John Walton". Journal of Neuromuscular Diseases. 2 (Suppl 2): S3-S4. doi:10.3233/JND-159903. ISSN ... Neuromuscular Disorders. 12 (10): 926-929. doi:10.1016/S0960-8966(02)00140-2. ISSN 0960-8966. PMID 12467747. S2CID 13229810. ... he studied the genetics and clinical features of the diseases of muscles, particularly relating to the identification of female ... to the identification of female carriers of the X-linked recessive gene responsible for the most severe form of the disease, ...
Spinal muscular atrophy
Journal of Neuromuscular Diseases. 5 (2): 145-158. doi:10.3233/JND-180304. PMC 6004919. PMID 29614695. Dangouloff T, Burghes A ... Another gene, SMN2, is considered a disease modifying gene, since usually the more the SMN2 copies, the milder is the disease ... Accomable Motor neuron disease "Spinal muscular atrophy". Genetic and Rare Diseases Information Center (GARD) - an NCATS ... Before its genetics was understood, its varying manifestations were thought to be different diseases - Werdnig-Hoffmann disease ...
Opportunistic infection
Degenerative Neurological and Neuromuscular Disease. 9: 109-121. doi:10.2147/DNND.S203405. PMC 6896915. PMID 31819703. Radu O, ... 2010 update by the infectious diseases society of america". Clinical Infectious Diseases. 52 (4): e56-93. doi:10.1093/cid/ ... Disease Primers. 5 (1): 9. doi:10.1038/s41572-019-0060-9. PMC 6685213. PMID 30705286. Africa CW, Nel J, Stemmet M (July 2014 ... Pan SW, Shu CC, Feng JY, Su WJ (June 2020). "Treatment for Mycobacterium avium complex lung disease". Journal of the Formosan ...
Diazepam
Mañon-Espaillat R, Mandel S (January 1999). "Diagnostic Algorithms for Neuromuscular Diseases". Clinics in Podiatric Medicine ... Diazepam may block the action of levodopa (used in the treatment of Parkinson's disease). Diazepam may alter digoxin serum ... McNicholas WT, Hansson D, Schiza S, Grote L (September 2019). "Sleep in chronic respiratory disease: COPD and hypoventilation ...
Paraneoplastic syndrome
Journal of Clinical Neuromuscular Disease. 15 (1): 13-18. doi:10.1097/cnd.0b013e3182a04538. PMID 23965404. S2CID 37917515. ... Disease Primers. 3: 17026. doi:10.1038/nrdp.2017.26. PMC 5901732. PMID 28492232. Hong MK, Kong J, Namdarian B, Longano A, ... The following diseases manifest by means of endocrine dysfunction: Cushing syndrome, syndrome of inappropriate antidiuretic ... Research suggests that patients who are treated with ICIs are more susceptible to CNS disease (since the mechanism of ICIs ...
Benzodiazepine
Mañon-Espaillat R, Mandel S (January 1999). "Diagnostic algorithms for neuromuscular diseases". Clinics in Podiatric Medicine ... A number of studies have drawn an association between long-term benzodiazepine use and neuro-degenerative disease, particularly ... Benzodiazepines are indicated in the management of breathlessness (shortness of breath) in advanced diseases, in particular ... Peppers MP (1996). "Benzodiazepines for alcohol withdrawal in the elderly and in patients with liver disease". Pharmacotherapy ...
Magnetomyography
Diagnostic Tests in Neuromuscular Disease. 22 (3): 643-682. doi:10.1016/j.ncl.2004.03.005. ISSN 0733-8619. PMID 15207879. ... Recent advances in technology have paved the way to remotely and continuously record and diagnosis individuals' disease of the ...
Osteonecrosis of the jaw
Neville BW; Damn D; Allen C; Bouquot JE (1995). "Facial pain and neuromuscular diseases.". Oral and maxillofacial pathology. ... In the hip, at least half of all patients will get the disease in the opposite hip over time; this pattern occurs in the jaws ... This disease apparently did not often occur in individuals with good gingival health, and usually targeted the mandible first. ... Almost a third of jawbone patients will need surgery in one or more other parts of the jaws because the disease so frequently ...
Prostaglandin E2
Degenerative Neurological and Neuromuscular Disease. 10: 1-13. doi:10.2147/DNND.S240800. PMC 6970614. PMID 32021549. ... Dinoprostone as a vaginal suppository is contraindicated for women with acute pelvic inflammatory disease or active disease of ... It is also used to manage gestational trophoblastic disease. It may be used within the vagina or by injection into a vein. PGE2 ... Schlemmer M, Khoss A, Salzer HR, Wimmer M (July 1982). "[Prostaglandin E2 in newborns with congenital heart disease]". ...
Batten disease
Degenerative Neurological and Neuromuscular Disease. 6: 73-83. doi:10.2147/DNND.S111967. PMC 6053093. PMID 30050370. "Batten ... May 2012). "Females experience a more severe disease course in Batten disease". Journal of Inherited Metabolic Disease. 35 (3 ... efficient rare disease research can be accomplished by working together." Lysosomal storage diseases "Batten Disease Fact Sheet ... In complex diseases such as Batten, therapies that address multiple aspects of the disease at the same time have the potential ...
Megavitamin-B6 syndrome
Journal of Clinical Neuromuscular Disease. 6 (1): 40-47. doi:10.1097/01.cnd.0000133065.28161.00. ISSN 1522-0443. PMID 19078751 ... Journal of Clinical Neuromuscular Disease. 19 (1): 43-46. doi:10.1097/CND.0000000000000172. ISSN 1522-0443. PMID 28827489. ... Journal of Clinical Neuromuscular Disease. 5 (2): 81-91. doi:10.1097/00131402-200312000-00003. PMID 19078725. S2CID 31440274.{{ ... Journal of Clinical Neuromuscular Disease. 16 (1): 25-31. doi:10.1097/CND.0000000000000049. PMID 25137514. S2CID 205557831. ...
Muscle-eye-brain disease
"Muscle-Eye-Brain Disease". Journal of Clinical Neuromuscular Disease. 11 (3): 124-126. doi:10.1097/CND.0b013e3181c5054d. ISSN ... "Muscle-Eye-Brain Disease". Journal of Clinical Neuromuscular Disease. 11 (3): 124-126. doi:10.1097/CND.0b013e3181c5054d. ISSN ... "Muscle eye brain disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. ... "Muscle eye brain disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. ...
Neuromuscular junction
... diseases can be of genetic and autoimmune origin. Genetic disorders, such as Congenital myasthenic ... Autoimmune disorders, in the case of neuromuscular diseases, tend to be humoral mediated, B cell mediated, and result in an ... Finsterer J, Papić L, Auer-Grumbach M (October 2011). "Motor neuron, nerve, and neuromuscular junction disease". Curr. Opin. ... Neuromyotonia (NMT), otherwise known as Isaac's syndrome, is unlike many other diseases present at the neuromuscular junction. ...
Elizabeth Fisher (neuroscientist)
UCL (26 September 2019). "prof-elizabeth-fisher-bio". Queen Square Centre for Neuromuscular Diseases. Retrieved 13 November ... Whilst it is well known that certain genes cause motor neuron disease, it is not clear how mutations impact the disease ... ALS is a form of motor neuron disease that occurs during middle age, whereas spinal muscular atrophy is the most common genetic ... Fisher serves as an academic editor on the journal PLoS Genetics and on the boards for the journals Disease Models and ...
Action potential
Hirsch NP (July 2007). "Neuromuscular junction in health and disease". British Journal of Anaesthesia. 99 (1): 132-8. doi: ... A special case of a chemical synapse is the neuromuscular junction, in which the axon of a motor neuron terminates on a muscle ... Some diseases degrade myelin and impair saltatory conduction, reducing the conduction velocity of action potentials. The most ... Waxman, SG in Waxman 2007, Multiple Sclerosis as a Neurodegenerative Disease, pp. 333-346. Rall, W in Koch & Segev 1989, Cable ...
Motor nerve
Retrieved 2021-02-19.{{cite web}}: CS1 maint: url-status (link) Glass, Jonathan D (2018-03-19). "Neuromuscular Disease: ... Motor neuron diseases can be viral, genetic or be a result of environmental factors. The exact causes remain unclear, however ... "Motor Neuron Disease". "Peripheral Nerve Disorders - Columbia Neurosurgery". Columbia Neurosurgery. Retrieved 2018-03-26. ...
Neurobiology Research Centre
Queen Square Centre for Neuromuscular Diseases. 26 September 2019. "DBT chips in Rs. 6 cr to NIMHANS & IISc for research in ... "National Institute of Mental Health and Neurosciences & Neuromuscular Laboratory - Dept of Neuropathology & Dept of Neurology, ... Communicable and Non-communicable Molecular Genetics Laboratory Neuromuscular Laboratory Neurotoxicology Laboratory Neuro- ...
Michael G. Hanna
Hanna established and is Director of a new MRC International Centre for Genomic Medicine in Neuromuscular Diseases in 2019. ... "Queen Square Centre for Neuromuscular Diseases". Cnmd.ac.uk. 3 October 2012. Retrieved 11 August 2015. "Mike Hanna". Cnmd.ac.uk ... This has transformed the experimental medicine landscape in the UK for neuromuscular diseases and enabled many natural history ... "Queen Square Centre for Neuromuscular Diseases". Cnmd.ac.uk. 3 October 2012. Retrieved 11 August 2015. "Top Teacher and ...
Spinal and bulbar muscular atrophy
Motor neuron diseases, Neuromuscular disorders, X-linked recessive disorders, Rare diseases). ... "Kennedy disease , Disease , Overview , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases. ... Neuromuscular management is supportive, and the disease progresses very slowly, but can eventually lead to extreme disability. ... Giorgetti, Elisa; Lieberman, Andrew P. (November 2016). "Polyglutamine androgen receptor-mediated neuromuscular disease". ...
Neuromuscular medicine
"The Role of the Neuromuscular Medicine and Physiatry Specialists in the Multidisciplinary Management of Neuromuscular Disease ... List of neuromuscular disorders Muscle Motor neuron diseases McDonald, C. M.; Fowler Jr, W. M. (2019-10-01). " ... Neuromuscular disease can be caused by autoimmune disorders, genetic or hereditary disorders such as channelopathies, or ... Neuromuscular medicine is a subspecialty of neurology and physiatry that focuses the diagnosis and management of neuromuscular ...
Ron Reagan
She died in 2014 from neuromuscular disease. They had no children. He married Federica Basagni in July 2018. Reagan stated in a ... from which he expected a cure or new treatments for Alzheimer's disease, of which his father had recently died. "There are ... the younger Reagan to speculate subsequently that his father may have already been in the early stages of Alzheimer's disease ...
Neurorehabilitation
Stroke Spinal Cord Injury Cerebral palsy Parkinson's disease Brain injury Anoxic brain injury Traumatic brain injury Multiple ... It may also include neuro-muscular strengthening and training, and visual perceptual skill development. Rehabilitation ... neuromuscular retraining, orthotics consultations, and aqua therapy. Occupational therapy helps patients in activities of daily ... is the culmination of many different fields to provide the best care and education for patients with injuries or diseases ...
Rehabilitation psychology
Parkinson's disease, multiple sclerosis, mild cognitive impairment, ADHD, and a variety of other medical conditions that affect ... AIDS Acquired brain injury Cancer Chronic pain Concussion Limb loss Multiple sclerosis Neuromuscular disorders Spinal cord ...
Equine anatomy
Susan J. Holcombe (1998). "Neuromuscular Regulation of the Larynx and Nasopharynx in the Horse" (PDF). Proceedings of the ... Diseases and surgery of the globe and orbit". In Gilger, BC (ed.). Equine Ophthalmology (3rd ed.). John Wiley & Sons. p. 151. ...
Eileen Southgate
... assisting with his research on sickle cell disease, a genetic disease in which a mutation in hemoglobin causes it to form ... They found close to 8,000 total synapses (cell to cell connections) which included around 2000 neuromuscular junctions, 5000 ... and investigating the causes of sickle cell disease with Vernon Ingram. Southgate spent her entire career as a laboratory ...
Conium maculatum
A short time after ingestion, the alkaloids produce potentially fatal neuromuscular dysfunction due to failure of the ... Avian Diseases. 34 (2): 433-437. doi:10.2307/1591432. JSTOR 1591432. PMID 2369382. Blamey, M.; Fitter, R.; Fitter, A. (2003). ...
De La Hunt Broadcasting
... a neuromuscular autoimmune disease that affects the muscles and the nerves that control them." De La Hunt Broadcasting operates ...
American Association of Neuromuscular & Electrodiagnostic Medicine
Electrodiagnostic medicine Neuromuscular medicine Neuromuscular disease "Dr. James Golseth: AANEM's First President". aanem.org ... These groups give physicians a voice in establishing new and revised electrodiagnostic and neuromuscular codes as well as being ... providers who work in collaboration with a neurologist or PMR physician to treat patients with neuromuscular diseases. ... AANEM tracks and responds to federal and state legislative and regulatory health policies related to neuromuscular and ...
RNA-targeting small molecule drugs
Recent discoveries implicating RNA in the pathogenesis of several forms of cancer and neuromuscular diseases have created a ... By this principle, if one can identify an RNA involved in disease then the sequence can be used to design a complementary ... Other works by the Disney group has shown that in cellular models of various RNA-mediated diseases that are causes by RNA ... has progressed to in vivo testing has been directed to the RNA repeat expansions implicated in genetic neuromuscular diseases. ...
MYH7
Disease onset usually occurs later in life, perhaps triggered by changes in thyroid hormone function and/or physical stress. ... Neuromuscular Disorders. 23 (7): 580-6. doi:10.1016/j.nmd.2013.04.003. PMID 23707328. S2CID 6194064. Jaaskelainen P, Miettinen ... This condition is an autosomal-dominant disease, in which a single copy of the variant gene causes enlargement of the left ... "Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial ...
Syntrophin, alpha 1
... a disease of sodium channel disruption". Circ Arrhythmia Electrophysiol. 1 (3): 193-201. doi:10.1161/CIRCEP.108.769224. PMC ... "Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin". J. Cell Biol. 150 (6 ...
Coffin-Lowry syndrome
Symptoms of disease are more severe in males, who are generally diagnosed in early childhood. Children with CLS display ... Additional neuromuscular features include sleep apnea, muscular spasticity, progressive loss of muscle strength and tone ... The prevalence of CLS is uncertain due to the rarity of the disease, but CLS is estimated to affect between 1 in 50,000 and 1 ... In these cases the symptoms are as severe as in males with the disease. Mutations in the RPS6KA3 gene can result in expression ...
Enzyme inhibitor
Methotrexate versus folate The most common uses for enzyme inhibitors are as drugs to treat disease. Many of these inhibitors ... Cholinesterase Inhibitors & Other Pharmacologic Antagonists to Neuromuscular Blocking Agents.". Morgan & Mikhail's Clinical ... In addition, many drugs are small molecule enzyme inhibitors that target either disease-modifying enzymes in the patient: 5 or ... Agbowuro AA, Huston WM, Gamble AB, Tyndall JD (July 2018). "Proteases and protease inhibitors in infectious diseases". ...
Telithromycin
Ketek's warning states that it should not be used in patients with myasthenia gravis, a disease that causes muscle weakness. ... moiety that is part of the telithromycin molecule acts as an antagonist on cholinergic receptors located in the neuromuscular ...
Muscular Dystrophy Association
"MDA Conference Bringing Neuromuscular Disease Experts to Orlando to Share 'New Era' in Treatment, Research". CHarcot-Marie- ... umbrella organization that works to support people with neuromuscular diseases. Founded in 1950 by Paul Cohen, who lived with ... both Thomsen's disease and Becker disease nemaline myopathy paramyotonia congenita periodic paralysis, both hypokalemic and ... Charcot-Marie-Tooth disease congenital muscular dystrophy congenital myasthenic syndrome Dejerine-Sottas disease ...
Mitochondrial myopathy
Myoneural junction and neuromuscular diseases, Mitochondrial diseases). ... Although no cure currently exists, there is hope in treatment for this class of hereditary diseases with the use of an ... On biopsy, the muscle tissue of patients with these diseases usually demonstrate "ragged red" muscle fibers. These ragged-red ... Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. ...
Linda Chang
She completed a fellowship at UCLA in 1991 in neuromuscular diseases and electrophysiology with mentor Thomas L. Anderson. In ...
Childhood immunizations in the United States
Without treatment as many as half the patients can die from the disease. Pertussis is a highly contagious disease that is ... and cognitive decline may continue for years before the onset of more severe neuromuscular disorders. There are some reports ... Poliomyelitis, known as the disease Polio, is a highly infectious disease caused by a virus that lives in the throat and ... "Meningococcal Disease". CDC. CDC. Retrieved 11 April 2014. "Meningococcal Disease Causes and Spread to Others". CDC. CDC. ...
HERC2
"The Parkinson's Disease-Associated Protein Kinase LRRK2 Modulates Notch Signaling through the Endosomal Pathway". PLOS Genetics ... which is deficient in mice with neuromuscular and spermiogenic abnormalities". Human Molecular Genetics. 8 (3): 533-42. doi: ... and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 ...
No-SCAR (Scarless Cas9 Assisted Recombineering) Genome Editing
... neuromuscular diseases such as Duchenne muscular dystrophy. The corrections of these genetic mutations, more importantly, are ... it has applications to both specific diseases as well as stem cell systems that model these same diseases. In stem cell ... will play an important role in modeling human disease using iPS cells and in the future treating these same diseases. Reisch, ... To date, CRISPR methods have successfully repaired disease-associated genetic mutations in 1) metabolic disorders such as β- ...
Carrie Ann Lucas
... she was diagnosed with a neuromuscular disease. She was an ordained minister, graduating from the Iliff School of Theology, and ...
Connectome
... which can then be compared to disease states. Pathways through cerebral white matter can be charted by histological dissection ... "Neuromuscular connectomes across development reveal synaptic ordering rules". bioRxiv. doi:10.1101/2021.09.20.460480. S2CID ...
Facial onset sensory and motor neuronopathy
Neuromuscular disorders, Motor neuron diseases, Rare diseases, Unsolved problems in neuroscience, All stub articles, Nervous ... In common with many neurological diseases, there is no one 'test' for FOSMN. The diagnosis can be notoriously difficult, mainly ... Europe and Asia point to a global incidence of the disease. It is thought to be exceptionally rare, with only approximately 100 ... on account of its rarity: even expert neurologists experienced in the diagnosis of diseases of the peripheral nervous system ...
Schindler disease
Additional neurological and neuromuscular symptoms such as diminished muscle tone, weakness, involuntary rapid eye movements, ... Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a rare disease found in ... Infants with Schindler disease tend to die within 4 years of birth, therefore, treatment for this form of the disease is mostly ... "Schindler Disease". National Organization for Rare Disorders (NORD). Retrieved 2008-11-13. "Kanzaki disease". Genetic and rare ...
BCS1L
Bjoernstad syndrome is an autosomal recessive disease primarily affecting hearing. This disease is characterized by congenital ... Neuromuscular Disorders. 19 (2): 143-6. doi:10.1016/j.nmd.2008.11.016. PMID 19162478. S2CID 32624169. Fernandez-Vizarra E, ... September 2013). "Clinical and biochemical features associated with BCS1L mutation". Journal of Inherited Metabolic Disease. 36 ... disease gene maps to chromosome 2q34-36". American Journal of Human Genetics. 62 (5): 1107-12. doi:10.1086/301837. PMC 1377094 ...
TPM2
"Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2". Neuromuscular Disorders. 17 (6): 433-42. doi: ... In a disease model of cardiac hypertrophy, β-tropomyosin was shown to be reexpressed within two days following induction of ... Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN (May 2009). "Cap disease due to mutation of the beta- ... Molecular Basis of Disease. 1852 (1): 47-52. doi:10.1016/j.bbadis.2014.11.003. PMC 4268308. PMID 25446994. Muthuchamy M, Boivin ...
Diazinon
... in cholinergic synapses and neuromuscular junctions. This results in abnormal accumulation of ACh within the nervous system. ... countries and eventually world-level organizations banned the insecticide for all purposes except for combating disease-vector ...
Carbonic anhydrase III, muscle specific
Heath R, Schwartz MS, Brown IR, Carter ND (1983). "Carbonic anhydrase III in neuromuscular disorders". Journal of the ... hypertensive renal disease, and heart failure". Clinical and Developmental Immunology. 2012: 354594. doi:10.1155/2012/354594. ...
Shortness of breath
Interstitial lung disease presents with gradual onset of shortness of breath typically with a history of a predisposing ... Persons with neurological/neuromuscular abnormalities may have breathing difficulties due to weak or paralyzed intercostal, ... Shortness of breath can also occur as a result of vocal cord dysfunction (VCD). Sarcoidosis is an inflammatory disease of ... It is the most common lung disease in both developing and developed countries affecting about 5% of the population. Other ...
William John Little
Thus, for many years, spastic diplegia was known as Little's Disease; only later did the name change. Also, Little founded the ... intended for the correction of skeletal deformity secondary to neuromuscular disorders. Little later travelled to Germany to ... techniques originated by Stromeyer and applied by Little are used today in the surgical management of quite a few neuromuscular ... between orthopaedic surgeons and neurosurgeons in today's management of spastic cerebral palsy and similar neuromuscular ...
Mitochondrial Myopathy - Neuromuscular Diseases
These diseases are considered to be a neuromuscular disease, although this disease affects all the cells of the body. - ... The mitochondrial myopathies are a group of genetic diseases that affect the mitochondria in the cells. ... These diseases are considered to be a neuromusclar disease, although this disease affects all the cells of the body.. The ... Mattie Stepanek, author and poet of the Heartsongs books and peace activist, was affected by the neuromuscular disease ...
View of Neuromuscular disease: 2022 update
Latest Articles : Journal of Clinical Neuromuscular Disease
Morphometric quantification of the cervical limb motor cells in various neuromuscular diseases
... J Neurol Sci. 1980 Sep;47(3):463 ... disease, 3 of 4 cases of chronic polyneuropathy and in 1 case of poliomyelitis and 1 of ossification of the posterior ... diffuse but asymmetrical in the other ALS and W-H disease cases and in a case of adult spinal muscular atrophy, and localized ... revealed that reduction in numbers of the motor cells was diffuse and symmetrical in half the cases of ALS and W-H disease and ...
Neuromuscular disease | Journal of Medical Genetics
Neuromuscular Disease Archives - Xtalks
Journal of Neuromuscular Diseases - Volume 7, issue 4 - Journals - IOS Press
The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, ... Keywords: Oculopharyngeal muscular dystrophy, dysphagia, dysarthria, neuromuscular diseases, cohort studies DOI: 10.3233/JND- ... Citation: Journal of Neuromuscular Diseases, vol. 7, no. 4, pp. 367-393, 2020 ... Citation: Journal of Neuromuscular Diseases, vol. 7, no. 4, pp. 395-405, 2020 ...
Neuromuscular disease | ADC Fetal & Neonatal Edition
A systematic review of mitochondrial disease in pregnancy RE Say, RG Whittaker, HE Turnbull, R McFarland, RW Taylor, DM ... Archives of Disease in Childhood - Fetal and Neonatal Edition Mar 2002, 86 (2) F91-F95; DOI: 10.1136/fn.86.2.F91 ... Archives of Disease in Childhood - Fetal and Neonatal Edition Jul 2000, 83 (1) F24-F27; DOI: 10.1136/fn.83.1.F24 ... Archives of Disease in Childhood - Fetal and Neonatal Edition Nov 1997, 77 (3) F165-F170; DOI: 10.1136/fn.77.3.F165 ...
Search of: Congenital Myopathy AND Neuromuscular Diseases AND Congenital AND Congenital AND Neuromuscular - List Results -...
Congenital Myopathy AND Neuromuscular Diseases AND Congenital AND Congenital AND Neuromuscular (44 records) ... 44 Studies found for: Congenital Myopathy AND Neuromuscular Diseases AND Congenital AND Congenital AND Neuromuscular ... Also searched for Muscular Disease, Disorders, Muscular disorders and more. See Search Details ...
Quest - Article - Great Expectations: Pregnancy and Childbirth with Neuromuscular Disease | Muscular Dystrophy Association
This is especially true for women with neuromuscular disease. This special report takes a look at the issues that arise for ... Youll also find personal stories of eight women with neuromuscular diseases who have had children. Some of these women had ... Great Expectations: Pregnancy and Childbirth with Neuromuscular Disease. by Margaret Wahl, Amy Labbe and Miriam Davidson , ... complications and of potential complications in pregnancy caused by medications used to treat neuromuscular diseases, and a ...
The Canadian Neuromuscular Disease Registry and Amylyx Pharmaceuticals Partner on Real-World Evidence Generation for a Novel...
The Canadian Neuromuscular Disease Registry and Amylyx Pharmaceuticals Partner on Real-World Evidence Generation for a Novel ... ABOUT CNDR: CANADIANS WORKING TOGETHER IN THE FIGHT AGAINST NEUROMUSCULAR DISEASE. The Canadian Neuromuscular Disease Registry ... The Canadian Neuromuscular Disease Registry and Amylyx Pharmaceuticals Partner on Real-World Evidence Generation for a Novel ... The CNDR aims to change the landscape of neuromuscular disease to the benefit of affected individuals and families across ...
Intercostal muscle biopsy in human neuromuscular disease. Histochemical and electron microscopic studies. | Journal of...
Breathing Training To Help Neuromuscular Disease | POWERbreathe
POWERbreathe breathing training improves respiratory function in individuals with neuromuscular disease. Learn how we can help ... Research Articles Related to Neuromuscular Disease. Article Links. * POWERbreathe Inspiratory Muscle Training in Amyotrophic ... Neuromuscular Disease (NMD). In this review, training with IMT shows that it can improve breathing force and endurance in ... Respiratory complication is one of the most common progressive conditions associated with neuromuscular disease or disorder ( ...
Effects of home-based neuromuscular electrical stimulation in severe chronic obstructive pulmonary disease patients: a...
Effects of home-based neuromuscular electrical stimulation in severe chronic obstructive pulmonary disease patients: a ... Effects of home-based neuromuscular electrical stimulation in severe chronic obstructive pulmonary disease patients: a ... Effects of home-based neuromuscular electrical stimulation in severe chronic obstructive pulmonary disease patients: a ... To date, neuromuscular electrical stimulation (NMES) has been used in acute COPD patients but NMES superimposed onto voluntary ...
Neuromuscular Diseases | Griswold Home Care Official Blog
Browse through some of our posts about Neuromuscular Diseases on the official Griswold Home Care blog. ... Neuromuscular Diseases. * May 08, 2018. ALS and Stephen Hawking: Timeline, Quick Facts, and More If youve been watching the ... Early Signs of Parkinsons Disease Michael J. Fox is one of the more famous individuals with Parkinsons Disease that affects ... Perhaps the worst part of the disease is that, according to the Parkinsons Disease Foundation (PDF), it is classified as both ...
The neuromuscular responses in patients with Parkinson's disease under different conditions during whole-body vibration...
... acceleration transmissibility of the lower extremity to try to understand the neuromuscular control in the Parkinsons disease ... The PD patients demonstrated altered neuromuscular control compared with the controls in responding to the WBV stimulations, ... The neuromuscular responses in patients with Parkinsons disease under different conditions during whole-body vibration ... The neuromuscular responses in patients with Parkinsons disease under different conditions during whole-body vibration ...
International GNE Myopathy Patient Registry - Full Text View - ClinicalTrials.gov
Muscular Diseases. Distal Myopathies. Musculoskeletal Diseases. Neuromuscular Diseases. Nervous System Diseases. Muscular ... There is a need to more precisely understand the long-term disease course and the progression of disease-specific features of ... Disease history [ Time Frame: 12 months ]. Patient reported disease history including GNE myopathy diagnosis. ... better understand a long-term disease course and the progression of disease-specific features, support translational research ...
Neuromuscular Disorders | MedlinePlus
Neuromuscular disorders affect the nerves that control your voluntary muscles. Many are genetic. Read about different disorders ... Some neuromuscular disorders are autoimmune diseases. Sometimes the cause is unknown.. Many neuromuscular diseases have no cure ... Genetics and Neuromuscular Disease (Muscular Dystrophy Association) - PDF * Infantile-onset ascending hereditary spastic ... Preparing for Emergencies: A Checklist for People with Neuromuscular Diseases (Muscular Dystrophy Association) - PDF Also in ...
Evidence that neuromuscular fatigue is not a dogma in patients with Parkinson's Disease
Evidence that neuromuscular fatigue is not a dogma in patients with Parkinsons Disease. Martignon, Camilla;Laginestra, Fabio ... Evidence_That_Neuromuscular_Fatigue_Is_Not_a_Dogma.95956.pdf solo utenti autorizzati ... Purpose: Given the increased level of fatigue frequently reported by patients with Parkinsons disease (PD), this study ... Purpose: Given the increased level of fatigue frequently reported by patients with Parkinsons disease (PD), this study ...
RQS | Houston, TX | Neuromuscular Diseases
Neuromuscular Diseases. Here at RQS, we provide care and service to a wide variety of patients. We have a wealth of experience ... providing care to patients with Neuromuscular Disease. There are many different types of Neuromuscular Disease for which we can ... Amyotrophic Lateral Sclerosis (ALS)- ALS, also known as Lou Gehrigs disease, is a progressive motor neuron disease that ... A diagnosis of ALS is provided by a neurologist specializing in the disease. As the disease progresses, patients experience ...
Details for: Dysphagia in neuromuscular diseases / › WHO HQ Library catalog
Muscle disease -- Neuromuscular junction disease -- Peripheral nerve disease -- Motor neuron disease -- Demyelinating disease ... Muscle disease -- Neuromuscular junction disease -- Peripheral nerve disease -- Motor neuron disease -- Demyelinating disease ... Dysphagia in neuromuscular diseases / Robert M. Miller and Deanna Britton. By: Miller, Robert M. (Robert Michael), 1946- [ ... The use of instrumental examinations in neuromuscular diseases -- Principles of intervention in neuromuscular disorders -- ...
Journal of Electrodiagnosis and Neuromuscular Diseases
... (JEND) is the official journal of the Korean Association of EMG ... about neuromuscular diseases. The journal is aimed to provide an open forum for original research in basic science and clinical ... research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases. ... the neuromuscular junction, and the peripheral motor, sensory and autonomic nerves. The journal publishes clinical studies, ...
Functional Arm Othosis for Neuromuscular Diseases
Designed at A.I. DuPont Hospital for Children, the WREX is for patients with neuromuscular weakness such as muscle disease, ... Design and Testing of a Functional Arm Orthosis in Patients with Neuromuscular Diseases. IEEE Transactions on Neural Systems ... for patients with neuromuscular diseases. The development and clinical testing of WREX is described in this report. Seventeen ... "Design and Testing of a Functional Arm Orthosis in Patients with Neuromuscular Diseases," found in the case study section of ...
Long-term mechanical ventilation in infants with neuromuscular disease<...
"Long-term mechanical ventilation in infants with neuromuscular disease",. abstract = "Seven children with neuromuscular disease ... Seven children with neuromuscular disease were placed on mechanical ventilation before the age of 2 years. The outcome for ... Iannaccone ST, Guilfoile T. Long-term mechanical ventilation in infants with neuromuscular disease. Journal of child neurology ... Iannaccone, S. T. ; Guilfoile, T. / Long-term mechanical ventilation in infants with neuromuscular disease. In: Journal of ...
Neuromuscular Disease Foundation | Available Treatments & clinical trials
The Neuromuscular Disease Foundation is a 501(c)(3) nonprofit organization. EIN: 06-1789643 ... Gene therapy uses a vector, typically a virus that does not cause disease, to deliver the gene to cells in the body. ... Gene therapy is a promising treatment option for genetic diseases that have no cure. Gene therapy is used to introduce a normal ... The therapeutic potential for ManNAc is currently being assessed in several diseases, including GNE Myopathy, in which therapy ...
Top Published Expert Doctors for Neuromuscular Diseases
Access 903 top medical experts on Neuromuscular Diseases across 50 countries and 38 U.S. states, including 836 MDs (Physicians) ... Neuromuscular Diseases: A general term encompassing lower motor neuron disease; peripheral nervous system diseases; and certain ... Motor Neuron Disease (1,255), Muscular Diseases (3,414), Neuromuscular Junction Diseases (427), Peripheral Nervous System ... 903 top medical experts on Neuromuscular Diseases across 50 countries and 38 U.S. states, including 836 MDs (Physicians). This ...
scoliosis and neuromuscular diseases Archives | Spine Surgeon
Muscle MRI useful for neuromuscular disease diagnosis | Neurodiem
ERN Workshop on contemporary outcome measures in neuromuscular diseases - EJP RD - European Joint Programme on Rare Diseases
ERN Workshop on contemporary outcome measures in neuromuscular diseases. EJP RD - European Joint Programme on Rare Diseases. - ... The workshop will consist of both presentations by experts in the field of neuromuscular diseases as well as interactive panel ... "aimed at understanding the advancement of technologies with digital outcome measures in neuromuscular diseases is being ... www.ejprarediseases.org/event/contemporary-outcome-measures-in-neuromuscular-diseases/ ...