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Autosomal dominant spastic paraplegia type 3

Disease definition

A rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

ORPHA:100984

Classification level: Disorder
  • Synonym(s):
    • Strümpell disease
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adult
  • ICD-10: G11.4
  • OMIM: 182600
  • UMLS: C2931355
  • MeSH: C536864
  • GARD: 5041
  • MedDRA: -

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