[Myopathia distalis tarda hereditaria. Results of a genealogical, clinical, clinical-chemical and electromyographic family study].
A family is described which displays a typical picture of autosomal-dominant inherited myopathia distalis tarda hereditaria, which is very rare outside Sweden. Three subjects still living who are carriers show, as probable heterozygotes, a very homotypical clinical picture but with distinct participation of the muscles of the proximal extremities and the limb girdles, in some cases also of the mimic muscles, a generalised myogenic disturbance in the EMG and clearly increased CPK activities in the serum. An early diagnosis might be possible from the age of 30, in which the EMG is of prime importance, ahead of clinical microsymptoms and the increase in the CPK activity.
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003402:Creatine Kinase / Q000097:blood*; D004576:Electromyography; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
D003402:Creatine Kinase
Myopathia distalis tarda hereditaria. Ergebnisse einer genealogischen, klinischen, klinisch-chemischen und elektromyographischen Familienuntersuchung.