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Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic calves

Authors
Journal
Journal of the Neurological Sciences
0022-510X
Publisher
Elsevier
Publication Date
Volume
114
Issue
1
Identifiers
DOI: 10.1016/0022-510x(93)90053-2
Keywords
  • Distal Spinal Muscular Atrophy
  • Hypertrophic Calves
  • Fasciculations
  • Hereditary Motor Neuron Disease
Disciplines
  • Biology
  • Medicine

Abstract

Abstract The clinical, clectrophysiological, radiological and morphological data of 3 members of a family with autosomal dominant distal spinal muscular atrophy (DSMA) are reported. One patient has the clinical picture of peroneal muscular atrophy with atrophic calves. His father and sister suffer from cramps and fasciculations of the calves with true neurogenic muscular hypertrophy of the calves. The electromyogram and the biopsy specimen are conclusive for motor neuron disease in this family. These findings suggest that the DSMA variant as described by D'Alessandro et al. (Arch. Neurol. (1982) 39: 657–660), concerning benign spinal muscular atrophy with hypertrophy of the calves, has to be considered as a mild manifestation of DSMA.

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