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)

Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially have progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease. Muscle biopsy established the diagnosis of acid maltase deficiency. The patient's brother had died at the age of 44 years, after 23 years of a "progressive muscular dystrophy." Acid maltase deficiency should be considered in the differential diagnosis of progressive respiratory insufficiency associated with weakness.
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PMID:Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty. 26 57

Myocardial involvement and serious electrocardiographic abnormalities are rare in patients with facioscapulohumeral (FSH) muscular dystrophy. We reported a case of FSH muscular dystrophy complicated with complete A-V block. The case was that of a 48 year-old male with the complaints of exertional dyspnea. His chest X-ray showed cardiomegaly, and the electrocardiogram recorded on admission showed complete A-V block. On the His bundle electrogram, complete A-H block and prolongation of H-V intervals were noted. Therefore, a permanent pacemaker was implanted, and he has been doing well for over 10 years after implantation. Although it is well known that serious electrocardiographic abnormalities are not infrequently associated with Duchenne's progressive muscular dystrophy (DMD), there are few reports about pacing therapy for patients with muscular dystrophy. Because the daily activity of patients with rapidly progressive type of muscular dystrophy such as DMD is at a very low level, they do not require pacing therapy. Whereas in patients with the FSH type of muscular dystrophy, which is a slowly progressive type, their daily activity is maintained at a high level. Therefore, pacing therapy should be recommended if the FSH type of muscular dystrophy is accompanied with serious bradyarrhythmias.
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PMID:[A case of facioscapulohumeral muscular dystrophy complicated with complete A-V block]. 206 9

A woman with early-onset, slowly progressive, humeroperoneal muscle weakness had marked restriction of neck flexion with contracture at the elbows. She developed exertional dyspnea at age 25, atrial fibrillation with slow ventricular rate was discovered, and a cardiac pacemaker was implanted. Her father had a similar disorder. There is at least one other report of autosomal dominant transmission of this clinical picture, which had previously only been reported as Emery-Dreifuss muscular dystrophy with X-linked recessive inheritance. Thus, more than one mode of inheritance is possible for this unusual and distinctive form of muscular dystrophy.
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PMID:Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. 402 62