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[Distal spinal muscular atrophy]

T Sevilla1

  • 1Servicio de Neurologia, Hospital Universitario La Fe, Valencia.

Neurologia (Barcelona, Spain)
|December 1, 1996
PubMed
Summary

This study examines distal spinal muscular atrophy (DSMA), a rare neuromuscular disorder. It identifies distinct subtypes and describes 27 patients with DSMA mimicking Charcot-Marie-Tooth disease.

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Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Context:

  • Chronic spinal muscular atrophy (SMA) typically affects proximal muscles, presenting in childhood or adolescence.
  • Less common distal forms of SMA have a generally favorable prognosis.
  • Three distinct types of distal SMA are identified, with varying inheritance patterns and clinical presentations.

Purpose:

  • To review the literature on distal spinal muscular atrophy.
  • To describe the clinical characteristics of 27 patients with distal SMA.
  • To differentiate distal SMA from other neuromuscular disorders, particularly Charcot-Marie-Tooth disease.

Summary:

  • Distal spinal muscular atrophy (DSMA) presents with weakness in distal muscles, unlike typical SMA.
  • Identified subtypes include upper-extremity predominant forms (familial and non-familial, some with Asian prevalence) and generalized forms.
  • One generalized form resembles Charcot-Marie-Tooth disease (CMT), characterized by distal weakness and similar prognosis, and another generalized form involves upper extremities and laryngeal muscles with autosomal dominant inheritance.

Impact:

  • Enhances understanding of the heterogeneity of spinal muscular atrophy.
  • Provides a detailed description of a rare variant of SMA, aiding in diagnosis and management.
  • Contributes to the differential diagnosis of inherited neuropathies, especially those mimicking Charcot-Marie-Tooth disease.

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