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Proximal spinal muscular atrophy type 4

Disease definition

Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

ORPHA:83420

Classification level: Subtype of disorder
  • Synonym(s):
    • SMA type 4
    • SMA type IV
    • SMA-IV
    • SMA4
    • Spinal muscular atrophy, adult form
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G12.1
  • OMIM: 271150
  • UMLS: C1838230
  • MeSH: -
  • GARD: -
  • MedDRA: -

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