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Autosomal dominant spastic paraplegia type 3

Disease definition

A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.

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
  • ICD-11: 8B44.00
  • OMIM: 182600
  • UMLS: C2931355
  • MeSH: C536864
  • GARD: 5041
  • MedDRA: -

  A summary on this disease is available in Español (2018) Italiano (2018) Français (2021) Nederlands (2021)

Detailed information

General public

Disease review articles

Disability

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.