Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The renewed interest in motor unit estimation (counting) has coincided with the introduction of computer-based methodology and with the application of the technique to proximal as well as distal muscles. The advantages and disadvantages of the different methods are considered, together with the assumptions inherent in this type of examination. In normal subjects, the extensor digitorum brevis (EDB) muscle has approximately 200 motor units while each of the intrinsic muscles of the hand has about 100 units; larger muscles in the limbs contain greater numbers of units. Beyond the age of 60 years, there is a decline in the number of functioning motor units in both proximal and distal muscles. In denervating disorders, motor unit estimation is useful for diagnosis and assessment; abnormal values may often be observed in muscles judged clinically to be unaffected. Serial studies have enabled the rate of motor unit loss to be determined in ALS and in spinal muscular atrophy. Depletion of motor units has also been found following upper motoneuron lesions caused by injury to the spinal cord or by cerebral hemorrhage; trans-synaptic dysfunction has been presumed responsible. Rather surprisingly, reduced numbers of motor units have been observed in a variety of myopathic disorders; of these, the most consistent abnormalities have been reported in myotonic muscular dystrophy.
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PMID:Invited review: motor unit estimation: methods, results, and present status. 192 65

It has been reported that amyotrophic lateral sclerosis-Parkinsonism-dementia in Guam might be related to the eating of Cycas seeds, which contain cyanide. Based on this assumption, we determined the urinary thiocyanate excretion level in patients with ALS and compared this with that of other neurological diseases. The assay method was designed to use column chromatography with Amberlite IRA 402. The thiocyanate level was determined using pyridine-barbiturate method. The 24-h thiocyanate level was higher in the ALS patients of the middle stages than in the normal control group (Wilcoxon's test, P less than 0.02). There were no significant differences between the ALS patient groups of the early and terminal stages, Kugelberg-Welander disease group, Duchenne type muscular dystrophy group and control group. From these results, we concluded that ALS patients were contaminated with cyanide or thiocyanate and that, along with rapid muscular atrophy, the thiocyanate excretion levels were high.
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PMID:Determination of urine thiocyanate in patients with amyotrophic lateral sclerosis. 258 12

Five men with degenerative neuromuscular diseases (three with amyotrophic lateral sclerosis [ALS] and two with Duchenne's muscular dystrophy [DMD]) who had respiratory failure were treated with intermittent negative pressure ventilation (NPV). One patient with ALS in severe acute respiratory failure was successfully treated with NPV alone. This patient and two other ALS patients in chronic respiratory failure with PaCO2 elevation stabilized or improved their vital capacity (VC) and lowered their PaCO2 after 5 to 11 weeks of therapy. Finally, intermittent NPV was used to replace 24-hour positive pressure ventilation in two patients with DMD. It is concluded that intermittent NPV may stabilize or temporarily improve the respiratory status in patients with progressive neuromuscular diseases.
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PMID:Intermittent negative pressure ventilation in the treatment of respiratory failure in progressive neuromuscular disease. 368 80

Gangliosides of healthy and pathologic muscles (amyotropic lateral sclerosis and facio-scapulo-humeral muscular dystrophy) were studied. Total ganglioside content of the affected muscles was approximately 2 fold higher than the unaffected muscles. Our results showed that ALS muscle contained a ganglioside which was absent in the unaffected and FSH muscular dystrophic muscles. Based on the results of hydrolysis with Vibrio cholerae neuraminidase and subsequent reactivity of the asialo derivative towards anti-globotetraosylceramide, we propose that the ALS ganglioside is sialosylglobtetraosylceramide, NeuAc(alpha 2-3)Ga1NAc(beta 1-3)Ga1(alpha 1-4)Ga1(beta 1-4)G1c-Cer.
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PMID:Sialosylglobotetraosylceramide: a marker for amyotropic lateral sclerosis. 669 69

In order to investigate the possible influences of pathological processes on muscle NGF levels in human subjects, we measured the NGF concentrations in muscle biopsies from 35 male and 16 female subjects (controls, n = 14; amyotrophic lateral sclerosis, n = 20; inflammatory myopathy, n = 6; muscular dystrophy, n = 11). The NGF concentration in each group was as follows: controls, 1.73 +/- 0.3 pg/mg protein (mean +/- S.E.M.); muscular dystrophies, 1.73 +/- 0.48 pg/mg protein; inflammatory myopathies, 2.28 +/- 1.45 pg/mg protein; amyotrophic lateral sclerosis, 4.15 +/- 0.79 pg/mg protein. The tissue NGF concentrations were significantly (140%) higher in patients with ALS than in the control subjects (P < 0.05, Wilcoxon signed rank test). Age and gender had no influence on tissue NGF concentrations. We conclude that the NGF increases observed here in affected muscle in amyotrophic lateral sclerosis can best be explained in terms of rapidly progressing denervation processes. Copyright 1998 Lippincott Williams & Wilkins
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PMID:Tissue nerve growth factor concentrations in neuromuscular diseases. 1021 Aug 78

Intermittent non-invasive home ventilation is expected to improve the quality of life, but progression of underlying neuromuscular diseases may lead to a deterioration. We observed after 82-1085 days of such home mechanical ventilation (7 patients with muscular dystrophy (age [mean/std.) 33 +/- 15 years), 8 patients with amyotrophic lateral sclerosis (ALS. age 60 +/- 8 years) a nonsignificant decrease of vital capacity (1.6 +/- 0.4 rp. 1.2 +/- 0.4 l) and an improvement of hypercapnia (49.3 +/- 8.5 rp. 43 +/- 18.5 mmHg). Quality of life (SF-36, Medical Outcomes Trust, Boston, USA) increased significantly only for mental health in patients with ALS (55 +/- 13 rp. 64 +/- 17%). Despite progression of the underlying disease the quality of life remained stable under home mechanical ventilation and mental health improved.
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PMID:[Intermittent assisted ventilation in neuromuscular diseases: course and quality of life]. 1061 50

Providing emotional support to caregivers is integral to comprehensive ALS care. The authors surveyed ALS Association centers and clinics and Muscular Dystrophy Association/ALS centers. Respondents thought that grief and bereavement support was integral to ALS care but thought that the support provided by their centers was often inadequate.
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PMID:Grief support for informal caregivers of patients with ALS: a national survey. 1564 19

The effects of muscle splice variants of insulin-like growth factor I (IGF-I) on proliferation and differentiation were studied in human primary muscle cell cultures from healthy subjects as well as from muscular dystrophy and ALS patients. Although the initial numbers of mononucleated progenitor cells expressing desmin were lower in diseased muscle, the E domain peptide of IGF-IEc (MGF) significantly increased the numbers of progenitor cells in healthy and diseased muscle. IGF-I significantly enhances myogenic differentiation whereas MGF E peptide blocks this pathway, resulting in an increased progenitor (stem) cell pool and thus potentially facilitating repair and maintenance of this postmitotic tissue.
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PMID:The IGF-I splice variant MGF increases progenitor cells in ALS, dystrophic, and normal muscle. 1753 Dec 27

Rehabilitation treatment and the interdisciplinary approach to care may improve the function of those with progressive neurologic disorders such as multiple sclerosis, Parkinson disease, ALS, muscular dystrophy, and neuropathy. Appropriate goals and therapies are specific to the stage of the disease as well as the needs and values of the individual patient. Preliminary evidence exists to support moderate aerobic and strengthening regimens in these patients. Close monitoring and avoidance of fatigue are paramount. Assistive technologies play an ever-increasing role in maintaining independence during all stages of the disease.
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PMID:Neurorehabilitation for other neurologic disorders. 2281 Aug 70

Ten groups presented their perspectives on facilitating clinical research in ALS including four federal agencies, four disease organizations, one foundation and one advocacy group. The federal agencies (National Institute of Neurological Disorders and Stroke, National Institute of Environmental Health Sciences, Office of Rare Diseases Research, Department of Defense) encourage fostering a team approach between pre-clinical and clinical research investigators, coordinating with patient groups in the early phases of clinical studies, enhancing private and public partnerships, and investigating the interplay between genetic susceptibility and environmental exposure. The disease organizations (Muscular Dystrophy Association, ALS Association, ALS Society of Canada, and the Motor Neurone Disease Association UK) support fellowship training programs to develop ALS clinician scientists, and encourage work on the epidemiology of ALS, on genetic and epigenetic mechanisms that are relevant to ALS pathogenesis, on developing ALS registries and biobanks, and building bridges of collaboration among study groups. The Foundation supports innovative projects, including stem-cell research, and Patient Advocacy is committed to supporting excellence in ALS research and patient care, and believes strongly in enhancing communication between patients and members of the research community.
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PMID:Funding agencies and disease organizations: resources and recommendations to facilitate ALS clinical research. 2367 81


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