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.
Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
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.
A reduction in the amount of air entering the pulmonary alveoli.
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)
These include the muscles of the DIAPHRAGM and the INTERCOSTAL MUSCLES.
Surgical formation of an opening into the trachea through the neck, or the opening so created.
Catalyzes the reduction of tetrazolium compounds in the presence of NADH.
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)
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.
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)
Surgical incision of the trachea.
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.
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).
Persistent flexure or contracture of a joint.
The act of blowing a powder, vapor, or gas into any body cavity for experimental, diagnostic, or therapeutic purposes.
Application of positive pressure to the inspiratory phase when the patient has an artificial airway in place and is connected to a ventilator.
Devices that cover the nose and mouth to maintain aseptic conditions or to administer inhaled anesthetics or other gases. (UMDNS, 1999)
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)
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)
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
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)
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
A method of mechanical ventilation in which pressure is maintained to increase the volume of gas remaining in the lungs at the end of expiration, thus reducing the shunting of blood through the lungs and improving gas exchange.
The recording of muscular movements. The apparatus is called a myograph, the record or tracing, a myogram. (From Stedman, 25th ed)
Mechanical devices used to produce or assist pulmonary ventilation.
Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.
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)
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)
Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available.
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.
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.
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)
The resistance to the flow of either alternating or direct electrical current.
Inflammation of a muscle or muscle tissue.
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. It is a protective response that serves to clear the trachea, bronchi, and/or lungs of irritants and secretions, or to prevent aspiration of foreign materials into the lungs.
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.
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.
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.
Contractile tissue that produces movement in animals.
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)
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.
Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.
An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
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.
The viscous secretion of mucous membranes. It contains mucin, white blood cells, water, inorganic salts, and exfoliated cells.
Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.
The volume of air that is exhaled by a maximal expiration following a maximal inspiration.

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)

Recently, I had the opportunity to speak on behalf of the Muscular Dystrophy Association to children walking to raise money. I found that I had much to tell these children, not just about neuromuscular disease and the MDA, but about coping and thriving despite life s struggles. - Learning through Neuromuscular Disease - Neuromuscular Diseases at BellaOnline
Balance walking (also called Nordic walking, walking with poles, or walking with trekking poles) offers many health benefits. Recently, Krin Patrie, Director of Balance Walking, spoke with me about the benefits of walking with poles, including the benefits for people with neuromuscular disease. - Balance Walking and Neuromuscular Disease - Neuromuscular Diseases at BellaOnline
Pregnancy and Childbirth with Neuromuscular Disease by Margaret Wahl, Amy Labbe and Miriam Davidson H aving a baby can be the most thrilling and rewarding experience of a womans life, yet it also can be fraught with fear and uncertainty. This is especially true for women with neuromuscular disease. This special MDA report takes a look at the issues that arise for expectant mothers with muscle disease and finds that, with proper care and planning, these women are usually - although not always - able to have successful pregnancies and give birth to healthy children. The report contains information from the July-September 2010 issue of MDAs Quest magazine, as well as additional information not found in the print magazine. Contents include: Caution, Preparation and Teamwork Lead to the Best Pregnancy Outcomes in Women with Neuromuscular Diseases. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 Disease-Specific Complications (chart). . . . . . . . . . . . . . . . . . . . . . . ...
Product Details»Book Publisher: Springer (15 December, 2004)»ISBN: 3211838198»Book author: Eva L. Feldman, Wolfgang Grisold, James W. Russell, Udo A. Zifko»Amazon Rating: Book Description: The atlas is a comprehensive outline of neuromuscular diseases, written by experienced American and European authors. It discusses all aspects of neuromuscular disorders including the cranial nerves, spinal nerves, motor neurone disease, the nerve plexus, peripheral nerves, mononeuropathies, entrapment syndromes, polyneuropathies, the neuromuscular junction, and muscle disease. Each chapter is uniformly structured into anatomy, symptoms, signs, pathogentic possibilities, diagnosis and differential diagnosis, therapy and prognosis. Additionally the diagnostic tools and investigations used in neuromuscular disease are explained and a practical guide is given how to advance from symptoms to syndromes. For each disease the therapeutic options are described. It contains large number of clinical and histologic ...
The pattern of ventilatory impairment among these disorders is highly dependent on the specific neuromuscular disease. For example, some disorders may impair ventilation at only one level (e.g., isolated diaphragm paralysis) or simultaneously affect it at different levels (e.g., multiple sclerosis [MS]). In addition, the severity of impairment may be minimal and totally resolve with time and proper treatment (e.g., Guillain-Barré syndrome [GBS]) or is characterized by relentless progression to eventual respiratory death (e.g., amyotrophic lateral sclerosis [ALS]). Moreover, some neuromuscular diseases concomitantly affect several structures (e.g., swallowing dysfunction in poliomyelitis, interstitial lung disease in polymyositis), increasing ventilatory workload in patients who already have diminished ventilatory reserve. ...
The natural course of every neuromuscular disease infallibly leads to respiratory insufficiency and fatal outcome. The clinical approach to these patients has been essentially changed during the last few decades. They have the right to use all the possibilities of modern medicine, including pediatric intensive care. On the other hand, the quality of their lives, the effect on their families lives, and limited health resources have to be considered. Pediatric intensive care approach to children with neuromuscular diseases is described with the emphasize on ethical dilemmas still present in their treatment ...
Advances in medical management, in particular the introduction of home ventilation in the 1990 s, has resulted in prolonged survival beyond early adulthood for children with severe neuromuscular diseases such as Duchenne Muscular Dystrophy (DMD). Seamless transition is thus becoming increasingly important and has been highlighted as a priority area for review by the Care Quality Commission (CQC). Poor transition can result in poor compliance and worse medical outcomes. Many young people with neuromuscular disease require a complex multi-disciplinary package of care, as highlighted in the NICE accredited standards of care for DMD. Negotiating fragmented adult services is a challenge for this population, and poor compliance may lead to costly prolonged unplanned emergency admissions, often to intensive care. At Queen Square we have developed a specialised unit called the neuromuscular complex care centre (NMCCC) which provides a one-stop shop model of care with access to all of the medical ...
TY - JOUR. T1 - The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands. AU - Deenen, Johanna C. W.. AU - van Doorn, Pieter A.. AU - Faber, Karin. AU - van der Kooi, Anneke J.. AU - Kuks, Jan B. M.. AU - Notermans, Nicolette C.. AU - Visser, Leo H.. AU - Horlings, Corinne G. C.. AU - Verschuuren, Jan J. G. M.. AU - Verbeek, Andre L. M.. AU - van Engelen, Baziel G. M.. PY - 2016/7. Y1 - 2016/7. KW - Neuromuscular disorders. KW - Neuromuscular diseases. KW - Epidemiology. KW - Age. KW - Gender. U2 - 10.1016/j.nmd.2016.04.011. DO - 10.1016/j.nmd.2016.04.011. M3 - Article. VL - 26. SP - 447. EP - 452. JO - Neuromuscular Disorders. JF - Neuromuscular Disorders. SN - 0960-8966. IS - 7. ER - ...
When JNNP first began publishing articles in 1921 the structure of DNA was unknown, and today we have effective gene-targeted therapies that alter the course of multiple neuromuscular diseases. One year ago, we were challenged to consider the most important or transformative development in neurology in the past 100 years and how JNNP contributed to this achievement given its broad scope. To our surprise, no nomination for neuromuscular disorders made the final list. Therefore, we wish to put forth a nomination for neuromuscular disorders. We contend the subspeciality of neuromuscular disorders leads the neurologic community in the most important achievements in the last 100 years: discovering the genetic etiology of previously untreatable neuromuscular disorders and turning these discoveries into therapies.. ...
The purpose of the study is to compare the immune response of two different injection methods (Intramuscular V.S. Subcutaneous) of the 2011-2012 seasonal Influenza (Flu) vaccine among patients with neuromuscular conditions who have significant muscle degeneration. This research study hypothesizes that the subcutaneous route of vaccine administration, as compared to the intramuscular route, may confer at least comparable, or possibly better, immunogenicity. At least 30 individuals followed by the CCHMC Neuromuscular Comprehensive Care Center will be recruited to participate in this study lasting approximately one to two months with two clinic visits and one follow-up telephone call. Immunogenicity will be assessed by comparing hemagglutination inhibition (HAI) antibody titers obtained pre- and post-vaccination ...
Nutritional status has been demonstrated to be a major factor for predicting survival in COPD independently of lung function 4-7. The present study is original with respect to the characteristics of patients and the nutritional approach. First, this study specifically addressed stable outpatients with chronic hypoxaemia (apart from neuromuscular diseases), requiring LTOT or/and HMV. According to these criteria, the present study addressed not only COPD patients but patients with respiratory failure of various aetiologies including neuromuscular patients even if they were younger and suffered from intrinsic neuromuscular disease. Secondly, this study provided the first multiparameter nutritional approach of malnutrition in such hypoxaemic patients. Finally, these data made it possible to assess the relationship between nutrition and disability. This study was further characterised, by the number of patients and their stability attested by the length of home respiratory care and the absence of ...
Brigham and Womens Neuromuscular Diseases and Electromyography (EMG) provides comprehensive diagnostic evaluation, consultation and management of neuromuscular disorders.
Atlas of Neuromuscular Diseases auf frohberg.de - This book surveys all aspects of neuromuscular disorders including cranial and spinal nerves, motor...
The Gregory W. Fulton ALS and Neuromuscular Disease Center was founded to improve both care and research for ALS and other neuromuscular disorders. See More
Patients with neuromuscular disease frequently experience acute respiratory failure. Most require endotracheal intubation or tracheostomy and mechanical ventilation because of paralysis and inability to maintain adequate spontaneous respiration. The prognosis is usually excellent if ventilatory mana …
There are many neuromuscular diseases that we diagnose and treat, including ALS (amyotrophic lateral sclerosis, also known as Lou Gehrigs Disease), muscular dystrophy, MG, neuropathy, and various muscle diseases.
When Emma Ciafaloni was preparing to become a neuromuscular disease specialist in the 1990s, and even when she directed the MDA neuromuscular disease clinic at Duke University in the early 2000s, she was struck by the lack of information she could offer patients who wanted to become pregnant.I really have an interest in women and neuromuscular diseases, in what we can do better for them in dealing with their neuromuscular disease and also with pregnancy, says Ciafaloni, now at the University of Rochester Medical Center, where she sees patients in the MDA clinic and has received MDA research support.. Read More ...
Receiving a diagnosis of a neuromuscular disease is often not easy - there can be denial, anger, grief, and a frustrating sense that maybe life is, in a way, over. For Wolfgang Pernice, PhD, however, being diagnosed with Charcot Marie…
books.google.comhttps://books.google.com/books/about/Muscle_pathology_in_neuromuscular_diseas.html?id=wBBsAAAAMAAJ&utm_source=gb-gplus-shareMuscle pathology in neuromuscular disease ...
The journal publishes research reports, reviews, short communications, and letters-to-the-editor and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases ...
Learn about Pediatric Neurology, which is a subspecialty of both pediatrics and neurology that focuses on neuromuscular diseases and the nervous systems in infants, children and adolescents.
The Neuromuscular Division sponsors multidisciplinary inpatient and outpatient programs in all aspects of neuromuscular diseases with a specific emphasis in. ...
Facets of a Multisystemic Neuromuscular Disease: A Continuum of Perspectives. Abbreviations. References. References. Slideshow 2794486 by arnie
Study SDL-5 Neuromuscular Disease Pathology flashcards from Blake Hollowoa's class online, or in Brainscape's iPhone or Android app. ✓ Learn faster with spaced repetition.
Quintiles is expanding its interest in real-world outcomes research through a new partnership to develop and implement the US Neuromuscular Disease Registry. - News - PharmaTimes
An international, peer-reviewed, open access journal focusing on research into degenerative neurological and neuromuscular disease, identification of therapeutic targets and the optimal use of preventative and integrated treatment interventions to achieve improved outcomes, enhanced survival and quality of life for the patient.
Partner with a global CRO that has the scientific leadership and operational execution in place to accelerate your neuromuscular disease study.
Swallowing Disorders: Evaluation and Treatment.. Swallowing Disorders: Evaluation and Treatment.. ---------------------------. By E.R. Johnson, MD. Presented to the Neuromuscular Disease Family Education Conference, October 1996.. I am reminded of the story of three individuals, a surgeon, an engineer and a politician, who discussed the importance of their profession in the origin of the world as described in the Book of Genesis. As you know, Eve was formed from the rib of Adam and that required a surgeon. The engineer said ,yes, but before that there was order created out of chaos that required engineers. Then the politician said, And whos responsible for the chaos?. When I first began in medicine thirty-five years ago, there was chaos in the area of neuromuscular disease. My first experience with neuromuscular disease occurred in 1947, I had anterior poliomyelitis. And I still remember the rather marked muscle pain in the quite difficult swallowing which I had. Both my parents and myself ...
Dr. DeBakeys interests included caring for those with neuromuscular diseases, and he was an active member of the MDA since 1970, when he joined the Scientific Advisory Committee. He served on the MDA Board for 20 years and then became the national vice president from 1991 to the time of his death. He was instrumental in developing the MDA program of university-based neuromuscular disease research and clinical centers in the 1970s.. Stanley H. Appel, MD, Edwards Distinguished ALS Professor and chair of neurology at the Methodist Neurological Institute in Houston, TX, said that Dr. DeBakey had convinced the MDA to develop a Clinical Research Center at Baylor-Methodist in 1977, and had also been influential in recruiting Dr. Appel to Houston to help establish a neuromuscular diseases center.. Dr. DeBakey was one of my real heroes and I was truly saddened by his passing, said Dr. Appel. Ive always been grateful to him for this unique opportunity and for helping me realize my potential.. At the ...
Review question We reviewed the evidence on the effectiveness and safety of techniques used to assist coughing in people with chronic neuromuscular disorders (cough augmentation techniques).. Background People with neuromuscular disorders (nerve-related conditions that affect the muscles) may have difficulty coughing and clearing mucous from the airways, placing them at risk of choking, recurrent chest infections, and ongoing lung disease. Cough augmentation techniques, such as manually assisted cough, bagging (using a self-inflating bag commonly used for resuscitation), mechanical Cough Assist (a device that clears secretions by applying a positive pressure to the airway, then rapidly shifting to a negative pressure), frog breathing (a method of breathing to help a person take in a bigger volume of air), and breathstacking (the person takes a number of sequential breaths in, stacking one breath on top of the other without breathing out in between breaths) aim to improve cough effectiveness, ...
It has been a memorable year for the world, and for Neuromuscular Disorders. Against the backdrop of global turmoil that Covid-19 brought with it, Victor Dubowitz, founding Editor-in-Chief of the journal, stepped down from the editorship at the end of September after 30 years devotion to it. Victor Dubowitz was the driving force behind the foundation of the journal, after a weekend meeting in Bologna with Luciano Merlini and Giovanni Nigro and launched at the International Congress of Neuromuscular Diseases in Munich in the autumn of 1990 with a group of colleagues i nvited to form the editorial board. (Source: Neu ...
Doctors for Diagnosis And Testing for Neuromuscular Disorders in Oyster Pearl Hospital, Mumbai. Find Doctors Near You, Book Doctors Appointment, Consult Online, View Cost for Diagnosis And Testing for Neuromuscular Disorders in Oyster Pearl Hospital, Mumbai | Lybrate
The aim of this study was to asses the physiology of the respiratory system impairment, as well as the methods used to investigate these impacts on the main neuromuscular diseases during childhood and adolescence. We performed a non-systematic review based on updated medical literature through a Medline research with the key words: neuromuscular disease, respiratory, ventilation, non-invasive ventilation, ethics. Also, were selected books published in the past five years and information from Neuromuscular Disorders Associations. All data was selected according to its relevancy on the purpose of the study. Respiratory muscle weakness is the main cause of progressive impairment of respiratory system function. Due to it, patients frequently develop thoracic scoliosis, reduced chest wall and pulmonary compliance. These impacts are not often preventedly treated, which leads to worsening of symptoms. The most common cause of acute respiratory failure is the respiratory tract infection due to the ...
The Ken and Ruth Davee Department of Neurology faculty who specialize in neuromuscular medicine provide learning opportunities for students, residents and fellows; both clinical trials and basic science research; and clinical care for patients with complex neuromuscular conditions through Northwestern University Feinberg School of Medicines affiliated care sites. We also offer a multidisciplinary clinic to patients with muscular dystrophy and motor neuron disease (e.g., Amyotrophic Lateral Sclerosis). We have a strong research program in genetics and basic science of neuromuscular disorders.. Learn more via the links below.. ...
Neuromuscular disorders may affect patients in every age, their course is mostly progressive, and they may be associated with physical impairment and even a reduced life span. Apart from the muscles (myopathy), neuromuscular disorders may affect the motor nerves (motoneuron disorders and neuropathies) or the neuromuscular transmission from nerve to muscle (myasthenic syndromes). Patients with neuromuscular disorders may suffer from weakness, palsies and muscle wasting, but may also experience pain, sensory disturbances, breathing, speech and swallowing problems. Several neuromuscular disorders are congenital or genetically determined. The most frequent entity in childhood is Duchenne muscular dystrophy (DMD), affecting one of 3500 boys. DMD manifests in early childhood, usually with subtle leg weakness which progresses to other muscle groups with increasing age. Other genetically determined neuromuscular disorders may manifest in infancy but also later in life, such as congenital myopathies, ...
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Muscular dystrophy is a group of inherited diseases that are characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue.
Muscular dystrophy is a group of inherited diseases that are characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue.
At Good Shepherd, we know that each individual with muscular dystrophy has unique abilities and medical needs. Here, we work with you to develop goals and the appropriate treatment plan to help you reach them.
MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research.
59 Symptoms may persist and contractures or synkineses may develop. Pathogenesis is not clear, but may be viral or inflammatory. Associated diseases: diabetes. Acyclovir, steroids, and surgery were compared: Results show better outcome from steroid treated vs. non-steroid treated patients. Steroids with acyclovir are also effective. Surgery: 104 cases were evaluated. 71 showed complete recovery, 84% with near nomal function. Important additional measures to consider: eye care, eye-lid surgery, facial rehabilitation, botulinus toxin injections for symptomatic synkineses. Particularly in muscle disease, imaging allows estimation of the pattern of distribution of the disease in various muscles. In patients with considerable muscle atrophy and fatty replacement, imaging helps in the selection of the muscle to be biopsied. Nerve biopsy The sural nerve is the most frequently biopsied nerve. Some schools prefer the superficial peroneal nerve, and biopsies from other nerves such as the superfi- 29 cial ...
Helloo Lovlies….!!!! I know some of you may be missing summer already, but I have a fabulous way to get us all into the chilly sweater weather spirit! How does a Girls Night Out sound? Thats right. Tooth Fairies with Purpose is inviting you to put on your comfiest scarf and join us for our fourth FUNdraiser to benefit THE MUCSLE MOVEMENT FOUNDATION.. Many of you may not have heard of the MMF before. I know I didnt. Unfortunately thats what happens until a disease or illness hits close to home. Did you know that over one million people in the United States are affected by neuromuscular disease? Diseases like Muscular Dystrophy and ALS. They limit an individuals ability to complete basic muscular movements such as walking, talking, eating and breathing. That is why the Muscle Movement Foundation is so important. The MMF provides physical, financial and emotional support to families living with neuromuscular diseases. And we want to muscle up and support this cause!!. This is one of the ...
John Porter from the National Institutes of Health likes to start talks by noting, Its a great time to be a mouse with a neuromuscular disease. Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse - yet there are few treatments available today for people with any of these diseases, and only a few treatments in human... ...
Respiratory muscle weakness is common among patients who have neuromuscular disease () . It can be acute (eg, Guillain-Barré syndrome), chronic and relapsing (eg, multiple sclerosis, myasthenia gravis), or relentlessly progressive (eg, amyotrophic la
The investigators laboratory has been studying families with a history of ALS for more than 25 years and is continuing to use new ways to understand how genes may play a role in ALS, motor neuron disease and other neuromuscular disorders.. The purpose of this study is to identify additional genes that may cause or put a person at risk for either familial ALS (meaning 2 or more people in a family who have had ALS), sporadic ALS, or other forms of motor neuron disease in the hopes of improving diagnosis and treatment. As new genes are found that may be linked to ALS in families or individuals, the investigators can then further study how that gene may be contributing to the disease by studying it down to the protein and molecular level. This includes all forms of ALS, motor neuron disease and ALS with fronto-temporal dementia(ALS/FTD). We also continue to study other forms of neuromuscular disease such as Miyoshi myopathy, FSH dystrophy and other forms of muscular dystrophy by looking at the genes ...
The Neuromuscular Disorders Applied Research Group of the World Federation of Neurology is organizing its 16th Annual Congress on Neuromuscular Diseases.. The fully virtual conference will take place on May 21-22 and 28-29, 2021.. The detailed program is available here, with a focus on the following themes:. ...
TY - JOUR. T1 - Profiles of neuromuscular diseases. Duchenne muscular dystrophy.. AU - McDonald, Craig M. AU - Abresch, R. T.. AU - Carter, G. T.. AU - Fowler, W. M.. AU - Johnson, E. R.. AU - Kilmer, D. D.. AU - Sigford, B. J.. PY - 1995/9. Y1 - 1995/9. N2 - One hundred and sixty-two patients with Duchenne muscular dystrophy (DMD) were followed over a 10-yr period to provide a profile of impairment and disability. The median height and weight of DMD boys were normally distributed before ages 9-10, but during the second decade height was markedly reduced, and weight was no longer normally distributed. Younger boys gained more weight than normals, whereas older individuals actually showed weight loss. Manual muscle test (MMT) measurements showed loss of strength in a fairly linear fashion from ages 5-13 yr, -0.25 MMT units per year. Upper extremity muscles were stronger than lower extremity muscles, proximal muscle groups were weaker than distal muscle groups, and extensor muscles were weaker ...
RNA interference via the endogenous miRNA pathway regulates gene expression by controlling protein synthesis through post-transcriptional gene silencing. In recent years, miRNA-mediated gene regulation has shown potential for treatment of neurological disorders caused by a toxic gain of function mechanism. However, efficient delivery to target tissues has limited its application. Here we used a transgenic mouse model for spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease caused by polyglutamine expansion in the androgen receptor (AR), to test gene silencing by a newly identified AR-targeting miRNA, miR-298. We overexpressed miR-298 using a recombinant adeno-associated virus (rAAV) serotype 9 vector to facilitate transduction of non-dividing cells. A single tail-vein injection in SBMA mice induced sustained and widespread overexpression of miR-298 in skeletal muscle and motor neurons and resulted in amelioration of the neuromuscular phenotype in the mice.
The National Institute of Neurological Disorders and Stroke (NINDS) and other Federal agencies and international organizations have the common mission of developing data standards for clinical research. Through the efforts of subject-specific working groups, topic-driven data elements have been created. The first set of Common Data Elements (CDEs) for Neuromuscular Diseases was developed in 2011. The Core data elements to be used by an investigator when beginning a research study in this disease/disorder are listed in the Start-up Resource Listing.. Many of the CDEs will overlap across study types, which allows for comparisons and meta-analysis across studies. Consistency of the data elements and the CDE formats is kept in order to ensure the ability to transfer critical medical information electronically from one center to another. This consistency also allows for continuity across different disease areas. The goals of the NINDS CDE initiative are to increase the efficiency and effectiveness of ...
Get exceptional Neuromuscular disease diagnosis and management services from highly experienced & loving pet care professionals in South Weymouth, MA. Visit VCA South Shore (Weymouth) Animal Hospital today.
MDA programs to help those with neuromuscular diseases include specialized care centers, a patient data registry, and a week-long free summer camp for kids.
Patients with a cardiac irregularity and myotonic dystrophy type 1 (a severe neuromuscular disorder with a high risk of sudden death) who received an invasive treatment strategy that included testing of their hearts electrical conduction system and if needed, implantation of a device such as a pacemaker, had an associated higher rate of 9-year survival compared to patients treated noninvasively, according to a study in the March 28 issue of JAMA.. Myotonic dystrophy type 1 (DM 1) is the most common inherited neuromuscular disease in adults, with an incidence of 1 in 8,000. The manifestations of the disease include muscle weakness, myotonia [abnormally long muscular contractions], multiple endocrine disorders, respiratory insufficiency, and cardiac abnormalities. The prevention of sudden death is central to patient management, according to background information in the article. Progression of conduction system (special muscle fibers that conduct electrical impulses throughout the muscle of the ...
This months Editors Choice, by Sahetya et al, is a small,prospective, physiologic study adjusting driving pressurethrough manipulation of positive end-expiratory pressure(PEEP). When the lowest driving pressure was reached,the stability over time was assessed. Compared to PEEPset using the low PEEP/FIO2 table from the ARDSnet, adecrease in driving pressure was associated with an increasein PEEP in 6 subjects and decrease in 4. Importantly, afterthe change in PEEP, driving pressure stabilized in less than5 minutes. Dries and Marini provide comment, noting thatthe best PEEP is tidal volume dependent. They argue for anempiric approach to PEEP, as the impact of PEEP on drivingpressure is related to lung recruitability.. Mechanical insufflation-exsufflation (MI-E) is standardcare in chronic neuromuscular diseases such as amyotrophiclateral sclerosis (ALS). MI-E operation has remained fairly constant since its inception. Recently, MI-E systemshave added oscillations in an effort to improve ...
The Charles Wiener Lab primarily conducts research on pulmonary circulation and hypoxia as well as respiratory muscle function in patients with neuromuscular diseases. Our recent studies have included investigating the treatment of pericardial effusions in patients with pulmonary arterial hypertension and examining the use of non-invasive ventilation in patients with amyotrophic lateral sclerosis (ALS). We also have an interest in medical education research. Our work in this area has included reviewing the role of academic medical centers in emerging health care markets.. Research Areas: respiratory system, neuromuscular diseases, ALS, pulmonary medicine, hypertension, hypoxia ...
In Study III, we aimed at validating the co-occurrence of ALS and other neuromuscular diseases, investigating the temporal relationship between the diagnoses and clinical characteristics of patients with both ALS and other neuromuscular diseases. Using information from the Swedish Patient Register, we identified all patients diagnosed with ALS in Sweden between 1991 and 2014, who had also a concurrent MS, myasthenia gravis (MG), inflammatory polyneuropathies (IP), or dermatopolymyositis (DMPM). The group included 263 patients. We validated medical records for 92% of these patients to confirm the overlap. Then, we compared patients with a confirmed overlap (N=28) with an independent sample of patients with only ALS (N=271). Among the patients with a validated overlap, 12 had a confirmed diagnosis of MS, nine a confirmed diagnosis of MG, four a confirmed diagnosis of IP, and three a confirmed diagnosis of DMPM. Seventy-nine percent of the patients with a confirmed overlap had these diagnoses prior ...
Peripheral nerve, neuromuscular junction and muscle diseases most often produce lower motor neuron signs with varying degree of paresis, hypotonia, hyporeflexia and muscle atrophy. Many cats will present a plantigrade stance or a crouched pelvic limb gait and cervical ventro-flexion. As other signs of neuromuscular disorder, these signs are not pathognomonic of an underlying cause but only reflect neuromuscular weakness associated with lower motor neuron involvement. This webinar offers you a case-based approach to common (and some less common) neuromuscular disorders. ...
Muscular dystrophy is a group of inherited diseases that are characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue.
The Congress will have sessions on muscular dystrophies, other myopathies, myasthenia gravis, polyneuropathies, spinal cord disorders, and neurofibromatosis to name some of the major themes within the Congress.. ...
COMMON NEUROMUSCULAR DISORDERS Poliomyelitis Guillain Barre syndrome Muscular dystrophies Myasthenia gravis Spinal muscular atrophy (Werdnig Hoffman syndrome) Myopathies (Congenital & Acquired) TA OGUNLESI (FWACP)
Therapy obviously depends as to the precise nature of the problem. Some neuromuscular diseases have a specific therapy for example endocrine disorders (hyperthyroidism, diabetes mellitus); Myasthenia gravis (Pyridostigmine and immunosuppressive therapy); and antiprotozoal agents for Toxoplasmosis and Neosporosis. For many degenerative neuropathies there is no treatment however some improve when given dietary supplements such as the mitochondrial co-factor L-Carnitine 50mg/kg twice daily and anti-oxidants such as gamma linoleic acid and omgea-3-fatty acids. Many severely tetraparetic animals will require considerable supportive care as well. For example, a pet which is unable to swallow may require feeding through a (PEG) tube into the stomach ...
Health related message boards offering discussions of numerous health topics including allergies, cancer, diabetes, heart disease, exercise, attention deficit disorder, diet, and nutrition.
Health related message boards offering discussions of numerous health topics including allergies, cancer, diabetes, heart disease, exercise, attention deficit disorder, diet, and nutrition.
It is our great pleasure to invite you to the NMD Summer Course Budapest 2019 to the Semmelweis University. The Summer Course will take place on 29-30 May 2019, in Budapest, Hungary.. Neuromuscular disorders are experiencing exceptional times. Research in this field has progressed significantly, clinical trials have multiplied, new treatment options will be available for the patients. Despite popular consensus that neuromuscular disorders do not necessitate a prominent place in medical education, knowledge of these conditions can be life-changing for patients and practitioners.. The mission of this Neuromuscular Summer Course is to provide core competency standards of training for the evaluation and treatment of patients with neuromuscular disorders, to improve coordination and treatment of patients with these rare disorders.. Specialists in neuromuscular disorders possess specialized knowledge in the science, clinical evaluation, and management of disorders of the motor neuron, nerve roots, ...
Objective: This article presents the design and validation of an accurate automatic diagnostic system to classify intramuscular EMG (iEMG) signals into healthy, myopathy, or neuropathy categories to aid the diagnosis of neuromuscular diseases. Method: First, an iEMG signal is decimated to produce a set of disjoint downsampled signals, which are decomposed by the lifting wavelet transform (LWT). The Higuchis fractal dimensions (FDs) of LWT coefficients in the subbands are computed. The FDs of LWT subband coefficients are fused with one-dimensional local binary pattern derived from each downsampled signal. Next, a multilayer perceptron neural network (MLPNN) determines the class labels of downsampled signals. Finally, the sequence of class labels is fed to the Boyer-Moore majority vote (BMMV) algorithm, which assigns a class to every iEMG signal. Result: The MLPNN-BMMV classifier was experimented with 250 iEMG signals belonging to three categories. The performance of the classifier was validated ...
Temple Health refers to the health, education and research activities carried out by the affiliates of Temple University Health System (TUHS) and by the Lewis Katz School of Medicine at Temple University. TUHS neither provides nor controls the provision of health care. All health care is provided by its member organizations or independent health care providers affiliated with TUHS member organizations. Each TUHS member organization is owned and operated pursuant to its governing documents ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
Exosomes are cell-derived vesicles that are present in many and perhaps all biological fluids, including blood, urine, and cultured medium of cell cultures. Exosomes contain various molecular constituents of their cell of origin, including proteins and RNA. It is becoming increasingly clear that exosomes have specialized functions and play a key role in, for example, coagulation, intercellular signaling, and waste management ...
Exercise Principles and Guidelines for Persons with Cerebral Palsy and Neuromuscular Disorders INTRODUCTION: Health and well being are the result of many factors: Physical activity is one of these factors.
Neurologists at Northwestern Medicine treat a variety of neuromuscular disorders, including carpal tunnel syndrome, hyperhidrosis, neuropathy and sciatica.
The growing interest of the industry production in wearable robots for assistance and rehabilitation purposes opens the challenge for developing intuitive and natural control strategies. Myoelectric control, or myo-control, which consists in decoding the human motor intent from muscular activity and its mapping into control outputs, represents a natural way to establish an intimate human-machine connection. In this field, model based myo-control schemes (e.g., EMG-driven neuromusculoskeletal models, NMS) represent a valid solution for estimating the moments of the human joints. However, a model optimization is needed to adjust the models parameters to a specific subject and most of the optimization approaches presented in literature consider complex NMS models that are unsuitable for being used in a control paradigm since they suffer from long-lasting setup and optimization phases. In this work we present a minimal NMS model for predicting the elbow and shoulder torques and we compare two optimization
Study Flashcards On Neuromusculoskeletal II-Exam 2 (Dr. Robinson) at Cram.com. Quickly memorize the terms, phrases and much more. Cram.com makes it easy to get the grade you want!
STC is considered to generally be a neuromuscular dysfunction of the colon. Scientific studies have shown diminished figures of interstitial cells of Cajal (ICC) (21) and alterations in the volume of myenteric plexus neurons expressing the excitatory neurotransmitter substance P (22) inside the gut wall of patients with this particular dysfunction. The current London classification of gastrointestinal neuromuscular diseases also lists hypoganglionosis, inflammatory neuropathy and degenerative leiomyopathy as other results in of STC (23). For the reason that our comprehension of these Ailments is barely rising, no therapies have nonetheless been directed within the underlying etiology ...
Admit and carefully observe the patient.The experience of the observer is probably as or even more important than the environment. Use reproducible quantitative measures when possible, such as maximal negative inspiratory force (NIF), exhalation spirometry or other measures of respiratory muscle strength. Listen to phonation. Vocal cord paralysis may develop independent of diaphragm or chest wall weakness. Stop acetylcholinesterase inhibitors. The role for these drugs, in my view, lies in the ambulatory treatment setting where they are employed to treat functional disabilities that compromise quality of life. They will increase the efficiency of neuromuscular transmission; however, they shift the curve only slightly, are short acting and do not provide a sufficient margin for error to be relied upon to prevent airway or respiratory failure in a myasthenic. The have no place in the ICU and come into play only later in recovery from crisis. Plasmapheresis is the most rapid and efficient way to ...
Tuesday 4 - Wednesday 5th May 2021. 2021 will see our conference move online for the first time. This is a 2-day virtual clinical course on childhood and adult neuromuscular disorders covering a range of disorders including Duchennes muscular dystrophy (DMD) and other muscular dystrophies, spinal muscular atrophy, (SMA), neuropathies, myopathies, channelopathies and mitochondrial disorders. This year there will be a particular emphasis on transitional diseases i.e. diseases which start in childhood but need to be managed throughout life including DMD and SMA. Recent advances in therapies for these conditions will be covered.. This 2-day course is designed for paediatric and adult specialists with an interest in neuromuscular diseases. Programme to follow shortly.. Registration. ...
Humphrey, E L and Lacey, E and Le, L T and Feng, L and Sciandra, F and Morris, C R and Hewitt, J E and Holt, I and Brancaccio, A and Barresi, R and Sewry, C A and Brown, S C and Morris, G E (2015) A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients. Neuromuscular Disorders, 25 (1). pp. 32-42. Humphrey, E L and Lacey, E and Le, L T and Sciandra, F and Morris, C and Hewitt, J E and Holt, I and Brancaccio, A and Barresi, R and Sewry, C A and Brown, S C and Morris, G E (2014) A NEW MONOCLONAL ANTIBODY AGAINST HUMAN ALPHA-DYSTROGLYCAN HAS POTENTIAL DIAGNOSTIC APPLICATIONS. Neuromuscular Disorders, 24 (9-10). p. 918. Kim, J and Jimenez-Mallebrera, C and Foley, A R and Fernandez-Fuente, M and Brown, S C and Torelli, S and Feng, L and Sewry, C A and Muntoni, F (2012) Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. Neuromuscular Disorders, 22 (2). pp. 139-48. ...
Not all children with neuromuscular conditions develop neuromuscular scoliosis but it is quite common, especially in children who are wheelchair-bound.
The Speak Foundation (TSF) is a non-profit organization that is run entirely by volunteers who live with a form of Muscular Dystrophy or who have a loved one with a disability. We are a charitable, faith-based organization that is dedicated to helping people of any age cope with and overcome the challenges of living with a neuromuscular disease (NMD). We are available to provide support to people with other health conditions as well. We personally understand the challenges that many people with MD face; TSF was created to unite a community, give all people with disabilities a voice, and defend the rights of those in need. A central part of our mission is to reach out to those living with NMDs, to connect their lives through mentorship, provide information and support, and inspire hope. One way that we do this is through our annual summer conference, which provides a context for relationship building and educational sessions on the many issues that affect those with NMDs most deeply. We hope to ...
Home Ventilation has been employed for many years, but utilizing it for special cases of insufficient breathing via a CPAP-type mask is more recent. This treatment is more effective than conventional CPAP or BiPAP for patients that qualify with specific diagnoses like chronic respiratory failure, advancing neuromuscular disease and restrictive thoracic disease. Patients with these problems can be ventilated specific to their issues and diseases. Licensed respiratory therapists are required to set-up, assess and make recommendations regarding the care of home ventilation patients. Patients are visited frequently to ensure equipment is operating properly and that it is being used as prescribed. As with all pressure machines, a physicians order is required. Please contact us to discuss this with a licensed therapist.. ...
The study evaluated 390 patients, with 215 patients being in some kind of ventilatory support. Sixty-nine patients (69/215) were in discontinuation of mechanical ventilation. The patients were distributed as: PSV, 48 (48/69); SIMV + PSV, nine (9/69); spontaneous, four (4/69); SIMV, three (3/69); PCV, three (3/69); and VCV, two (2/69). The causes of admission in mechanical ventilation of this group were COPD (1/69), neuromuscular disease (2/69), coma (9/69), and acute respiratory failure (57/69). On the day of the study, 38 patients were with pneumonia (38/69): 20 were with VAP, 11 were with nosocomial pneumonia and seven were with community pneumonia. The medium times of mechanical ventilation were, respectively, 39.2 days, 23.7 days and 8.3 days. ...
Myasthenia gravis is either an autoimmune or congenital neuromuscular disease that leads to fluctuating muscle weakness and fatigue. Because MG is irreversible, a maximization of quality of life improvement measures and supportive treatments are imperative. A mixture of THC & CBD is being used to treat the condition. THC has been shown to protect the brain from various insults that would otherwise cause insomnia and stress. High CBD content can be effective in treating pain and discomfort.. ...
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 ...
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 ...
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; ...
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 ...
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 ...
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 ...
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 ...
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 ...
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, ...
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, ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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]". ...
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 ...
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". 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. ...
... 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. ...
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 ...
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 ...
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. ...
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- ...
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 ...
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". ...
"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 ...
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 ...
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 ...
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 ...
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. ...
... 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 ...
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). ...
... a neuromuscular autoimmune disease that affects the muscles and the nerves that control them." De La Hunt Broadcasting operates ...
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 ...
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. ...
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 ...
... 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 ...
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 ...
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". ...
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 ...
"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 ...
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. ...
She completed a fellowship at UCLA in 1991 in neuromuscular diseases and electrophysiology with mentor Thomas L. Anderson. In ...
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. ...
"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 ...
... 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- ...
... she was diagnosed with a neuromuscular disease. She was an ordained minister, graduating from the Iliff School of Theology, and ...
... 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 ...
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 ...
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 ...
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 ...
"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 ...
... 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 ...
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. ...
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 ...
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 ...
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 ...
Return to Article Details Neuromuscular disease: 2022 update Download Download PDF ...
Journal of Clinical Neuromuscular Disease provides original articles of interest to physicians who t ... Latest Articles : Journal of Clinical Neuromuscular Disease. You may be trying to access this site from a secured browser on ...
... 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 ...
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease Yi Shiau Ng, Charlotte L ...
Part 3: Rare Disease Clinical Development - Strategies for Ensuring Endpoint Integrity. April 21, 2020 ...
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 ...
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 ...
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 ...
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 ... 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. ... Intercostal muscle biopsy in human neuromuscular disease. Histochemical and electron microscopic studies. ...
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 ... To date, neuromuscular electrical stimulation (NMES) has been used in acute COPD patients but NMES superimposed onto voluntary ...
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 ...
... 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 ...
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 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 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 ...
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 ...
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 -- ...
... (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, ...
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",. 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 ...
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 ...
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 ...
Overview Of Neuromuscular Scoliosis. Scoliosis means side-to-side curvature of the spine. Mostly it occurs during the growth ... by spine surgeon , May 11, 2020 , Blog, neurological deficits treatment in hyderabad, Neuromuscular Scoliosis treatment in ...
Movement Disorders Neuro-Ophthalmology Neuro-Oncology Neuromuscular Stroke Dementia Headache Epilepsy Multiple Sclerosis ... Specialists have reported that muscle MRI can be useful for guiding the diagnosis of inherited neuromuscular disorders (NMDs) ...
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/ ...
Results from several recent clinical trials evaluating a number of new and emerging therapies in neuromuscular disease were ... Movement Disorders Neuro-Ophthalmology Neuro-Oncology Neuromuscular Stroke Dementia Headache Epilepsy Multiple Sclerosis ...

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