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distal spinal muscular atrophy type 5 (DSMA5)

Pathology: - distal hereditary motor neuropathy Genetics: - autosomal dominant form associated with defects in GARS Clinical manifestations: - phenotype similar to Charcot-Marie-Tooth disease type-2D Differential diagnosis: - Charcot-Marie-Tooth disease type-2D main characteristic that distinguishes these disorders is the less severe distal sensory involvement in DSMA5 patients

Database Correlations

OMIM 600794

References

  1. UniProt :accession P41250
  2. OMIM :accession 600794