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Autosomal dominant adult-onset proximal spinal muscular atrophy

Disease definition

A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.

ORPHA:209335

Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant adult-onset proximal SMA
    • Autosomal dominant late-onset spinal muscular atrophy, Finkel type
    • Finkel disease
    • SMAFK
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Elderly
  • ICD-10: G12.1
  • OMIM: 182980
  • UMLS: C1854058  C1866777
  • MeSH: -
  • GARD: -
  • MedDRA: -

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