An obscure inherited neuropathy characterized by pain and weakness.
Two brothers with inherited muscular atrophy and particular proneness to painful limbs are described. Symptoms of disease began at an early age with severe pains in the extremities. The pain is particularly aggravated by heat or fever and over the years has been associated with progressive muscular atrophy and sensory loss. A prominent feature of biopsy specimens was the tomaculous swellings which affected the myelin of the nerve axon and the motor nerve terminals.
D000293:Adolescent; D002648:Child; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D009186:Myelin Sheath / Q000473:pathology; D009469:Neuromuscular Junction / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology