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Proximal spinal muscular atrophy

Disease definition

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

ORPHA:70

  • Synonym(s):
    • SMA
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: G12.0  G12.1
  • OMIM: 253300  253400  253550  271150
  • UMLS: -
  • MeSH: -
  • GARD: 4531
  • MedDRA: -

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