منابع مشابه
Genetic Modifiers for Neuromuscular Diseases.
Neuromuscular diseases, which encompass disorders that affect muscle and its innervation, are highly heritable. Genetic diagnosis now frequently pinpoints the primary mutation responsible for a given neuromuscular disease. However, the results from genetic testing indicate that neuromuscular disease phenotypes may vary widely, even in individuals with the same primary disease-causing mutation. ...
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affected than females [2,6 ]. Bolton pointed out that The uraemic syndrome is characterized by overall 60% of patients receiving haemodialysis for uraemia deterioration of biochemical and physiological funchave neuropathy by electrodiagnostic criteria [2]. The tions in parallel with the progression of renal failure. main symptoms are restless legs, spontaneous cramps, Uraemia results in variabl...
متن کاملRespiratory failure in neuromuscular diseases.
A series is reported of five patients with acute respiratory failure complicating neuromuscular diseases, three of whom required assisted ventilation. Initially the arterial carbon dioxide tension fell to levels below the normal range in all the patients and this change reflects alveolar hyperventilation which is probably produced by a combination of fear, small airway collapse, and reflex tach...
متن کاملSleep polygraphic parameters in neuromuscular diseases.
In a polysomnographic study of 32 neuromuscular patients-22 with a form of muscular dystrophy, 3 with a form of congenital myopathy, 4 with a form of spinal muscular atrophy, 1 with a recurrent form of polymyositis and 1 with osteogenesis imperfecta syndrome--of which 21 were nonambulatory, we observed sleep related respiratory disturbances represented by: drops in oxygen saturation (SaO2), car...
متن کاملGene and splicing therapies for neuromuscular diseases.
Neuromuscular disorders (NMD) are heterogeneous group of genetic diseases characterized by muscle weakness and wasting. Duchenne Muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) are two of the most common and severe forms in humans and although the molecular mechanisms of these diseases have been extensively investigated, there is currently no effective treatment. However, new gene-ba...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1984
ISSN: 0022-3050
DOI: 10.1136/jnnp.47.11.1264