Orphanet: Proximal spinal muscular atrophy type 3
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Proximal spinal muscular atrophy type 3

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 of progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired.

ORPHA:83419

Classification level: Subtype of disorder
  • Synonym(s):
    • Juvenile spinal muscular atrophy
    • Kugelberg-Welander disease
    • SMA type 3
    • SMA type III
    • SMA-III
    • SMA3
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G12.1
  • OMIM: 253400
  • UMLS: C0152109
  • MeSH: -
  • GARD: 198
  • MedDRA: -

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