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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.

ORPHA:431255

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: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.