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)

Muscle tissues from cases of childhood neuromuscular disorders were examined immunohistochemically and immunoelectrophoretically using a monoclonal antibody against the human nerve growth factor receptor (NGFR). Strong NGFR immunoreactivity on the tunica adventitia of blood vessels and proliferating peripheral nerve endings in biopsied muscle specimens from muscular dystrophy patients was observed, but it was almost completely absent in specimens from non-diagnostic controls and cases of other neuromuscular disorders. This suggests a process in the sympathetic nervous system involving blood vessels in muscular dystrophies. Immunoblot analysis failed to show a band corresponding to 70-75 kd, the reported molecular size of the NGFR, but showed a clear band corresponding to 25 kd in muscular dystrophy patients, which is assumed to be a detached amino-terminal domain of the NGFR.
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PMID:Nerve growth factor receptor immunoreactivity on the tunica adventitia of intramuscular blood vessels in childhood muscular dystrophies. 166 70

Two female patients with distal muscular dystrophy (Miyoshi) are reported. Neurological examination revealed marked weakness and a low skin temperature of both lower legs, especially over the gastrocnemius muscle. Biopsy specimens of the anterior tibial muscle exhibited myopathological features compatible with a dystrophic change and showed positive dystrophin reactions with all six antibodies used. Autonomic nerve studies in both patients, including laser Doppler flowmetry (LDF), component analysis of the cardiographic R-R interval and a sympathetic skin response (SSR) test, demonstrated marked abnormalities, such as sensitive vasoconstrictive responses, a suppressed peak of low frequency components and an absence of SSR, respectively, compared with findings in healthy controls. Sympathetic nerve blocking by means of epidural anesthesia produced clinical improvement and a marked decrease in the serum CK level in one patient. Although the etiology of autonomic nerve disturbances in these cases remains to be elucidated, a positive immunoreactivity of nerve growth factor receptor (NGFR) implies the possibility of some unknown sympathetic neurovascular disorder involving muscle degeneration.
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PMID:Two patients with distal muscular dystrophy and autonomic nerve dysfunction. 805 32