Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myoglobinuria was found in an 11 month old girl suffering from fever, dyspnoea, and muscle hypotonia. Muscle biopsy showed focal degenerative necrosis of the muscle fibres. Electronmicroscopically, picornavirus-like crystals were demonstrated in the muscle fibres. These and other findings strongly suggest that she suffered from acute myositis with myoglobinuria probably caused by Coxsackie B6 virus infection. The causal relationship of viral infection (Coxsackie, influenza, or myxo-viruses) and acute or chronic polymyositis with or without myoglobinuria is discussed.
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PMID:Acute fulminant myoglobinuric polymyositis with picornavirus-like crystals. 92 98

A 10-month-old Japanese boy developed progressive muscle weakness and hypotonia at 3 months of age. Because of striking inflammatory cellular infiltration in his muscle biopsy, he was diagnosed as having infantile polymyositis and was placed on steroid and immunosuppressive medication when he was 10-month-old. His physical condition was not significantly altered, though serum creatine kinase (CK) level was normalized (1,500 iu/l----90 iu/l). These findings contrast with previous reports documenting improvement with steroid administration.
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PMID:Infantile polymyositis: a case report. 151 57

An eleven-months-old boy with motor developmental delay, muscle weakness, hypotonia and normal tendon reflexes was diagnosed as having infantile polymyositis, histologically with a vasculitis component. Corticosteroid treatment was successful. At the age of 5 years he showed a normal motor pattern.
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PMID:[Infantile myositis]. 408 72

We describe a 41 years old woman who 17 years ago presented hypotonia and proximal muscular weakness in the upper and lower limbs. On neurological examination, the biceps, triceps and Achilles reflexes were absent; the brachioradialis reflexes were decreased and the patellar reflexes were normal. There was bilateral Babinski sign. The remainder of the neurological examination was unremarkable. In the investigation a myopathic pattern was found in the electromyography. The nerve-conduction study was normal; a ELISA method for HTLV-I antibodies was positive in the blood and in the cerebral spinal fluid. The muscle biopsy showed inflammatory myopathy, compatible with polymyositis. This paper focuses the polymyositis in the beginning of an HTLV-I infection case.
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PMID:Inflammatory myopathy on HTLV-I infection: case report. 1129 45

The congenital muscular dystrophies (CMD, MDC) represent a heterogeneous group of autosomal recessive disorders manifesting in infancy by muscle weakness and hypotonia. Approximately 40% of patients with CMD have a primary deficiency of the laminin alpha 3. chain of merosin (laminin-2) due to mutations in LAMA2 gene. Laminin-2 bound to alpha-dystroglycan forms a link between actin--associated cytoskeletal proteins and the components of extracellular matrix. Disruption of this axis is responsible for several forms of muscular dystrophy. A unique case of congenital muscular dystrophy simulating a juvenile polymyositis in a muscle biopsy is presented. A profound reduction of alpha-dystroglycan and less pronounced secondary deficiency of alpha 2-laminin were found. All known forms of CMD were excluded, and the disorder was diagnosed as so far undescribed form of CMD. The mutation in a gene encoding the protein, that seems to play a role in a glycosylation of alpha-dystroglycan, is presumed.
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PMID:[A unique case of congenital muscular dystrophy]. 1523 18