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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. Ital J Neurol Sci 1981 Aug;2(3):269-74

Date

08/01/1981

Pubmed ID

7341549

DOI

10.1007/BF02335407

Scopus ID

2-s2.0-0019781831 (requires institutional sign-in at Scopus site)

Abstract

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.

Author List

Inzitari D, Rizzuto N, Antuono P, Sità D

Author

Piero G. Antuono MD Professor in the Neurology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adult
Biopsy
Charcot-Marie-Tooth Disease
Female
Glucosephosphate Dehydrogenase Deficiency
Humans
Muscular Atrophy
Peroneal Nerve
Thalassemia