[Sporadic distal myopathy].
The presented description of two cases of sporadic distal myopathy represents the first report on this disease published in the national literature. The clinical picture of the disease was consistent with that of five patients with this disease entity described in the world literature and was characterized by the disease onset in young age expressed in the form of distal muscular atrophies, a dramatic increase in the activity of serum creatine kinase, with electromyographic, histologic and electron microscopic findings indicating the presence of the myopathic process. A differential diagnosis from other diseases manifesting themselves in distal muscular atrophies is also outlined.
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis; D004796:Clinical Enzyme Tests; D003402:Creatine Kinase / Q000097:blood; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis* / Q000473:pathology; D009336:Necrosis
D003402:Creatine Kinase
Sporadicheskaia distal'naia miopatiia.