Progressive peroneal muscular atrophy (Charcot-Marie-Tooth disease) associated with beta-thalassemia trait and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. A clinical and nerve biopsy case.
The case of a 22 year old woman presenting progressive peroneal muscular atrophy (PMA) is described. Electrophysiological and pathological studies demonstrated features of hereditary motor and sensory neuropathy -HMSN- type I. Laboratory findings showed two erythrocytic defects: beta-thalassemia trait and a glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Unlike the past, these inherited disorders are associated with PMA.
D000328:Adult; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications*; D006801:Humans; D009133:Muscular Atrophy / Q000150:complications*; D010543:Peroneal Nerve / Q000473:pathology; D013789:Thalassemia / Q000150:complications*