Orphanet: Autosomal dominant childhood onset proximal spinal muscular atrophy

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Autosomal dominant childhood-onset proximal spinal muscular atrophy

Disease definition

A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.


Classification level: Disorder
  • Synonym(s):
    • Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
    • SMALED
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood, Adolescent, Antenatal, Neonatal
  • ICD-10: G12.1
  • OMIM: 158600  615290
  • UMLS: C1834690
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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