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Proximal spinal muscular atrophy type 2

Disease definition

A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. Motor milestones are classically limited to independent sitting or standing.

ORPHA:83418

Classification level: Subtype of disorder
  • Synonym(s):
    • Intermediate spinal muscular atrophy
    • SMA type 2
    • SMA type II
    • SMA-II
    • SMA2
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G12.1
  • OMIM: 253550
  • UMLS: C0393538  C2931358
  • MeSH: -
  • GARD: 4945
  • MedDRA: -

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