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Kennedy disease

Disease definition

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.

ORPHA:481

  • Synonym(s):
    • SBMA
    • SMAX1
    • X-linked BSMA
    • X-linked bulbospinal amyotrophy
    • X-linked bulbospinal muscular atrophy
    • X-linked spinal and bulbar muscular atrophy
  • Prevalence: 1-9 / 100 000
  • Inheritance: X-linked recessive 
  • Age of onset: Adult
  • ICD-10: G12.2
  • OMIM: 313200
  • UMLS: C0393547  C0752353  C1839259
  • MeSH: -
  • GARD: 6818
  • MedDRA: 10068600

Detailed information

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