Orphanet: Atrofia muscolare spinale scapolo peroneale

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Scapuloperoneal spinal muscular atrophy

Disease definition

A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.


Classification level: Disorder
  • Synonym(s):
    • Neurogenic scapuloperoneal amyotrophy, New England type
    • SPSMA
    • Scapuloperoneal neuronopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood, Neonatal
  • ICD-10: G12.1
  • OMIM: 181405
  • UMLS: C0751335
  • MeSH: -
  • GARD: 10314
  • MedDRA: -
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