Rare Disease Database

Rare Disease Database

Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1

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Synonyms

  • SMA-LED1
  • Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
  • SMALED1
  • Spinal muscular atrophy, lower extremity-predominant 1, dominant
  • Autosomal dominant lower extremity-predominant spinal muscular atrophy-1
  • Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant
  • Autosomal dominant spinal muscular atrophy with lower extremity predominance
  • Spinal muscular atrophy, lower extremity-predominant 1, AD
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
  • DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
  • DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

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