Distal muscular dystrophy with autosomal recessive inheritance.
Two sisters presented with distal weakness and their muscle biopsy was dystrophic. This distal muscular dystrophy has an autosomal recessive inheritance and its features are somewhat different from the more common autosomal dominant distal muscular dystrophy and include: a) onset in early adult life; b) involvement of distal leg muscles and especially peroneal muscles; c) marked early elevation of serum creatine kinase (CK); d) brief duration, small amplitude motor units and fibrillation on electromyography; and e) histologic features of a dystrophic myopathy.
D000293:Adolescent; D000367:Age Factors; D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D001284:Atrophy; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005260:Female; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D007866:Leg; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D011770:Pyruvate Kinase / Q000097:blood
D007770:L-Lactate Dehydrogenase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D011770:Pyruvate Kinase; D003402:Creatine Kinase