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Autosomal dominant spastic paraplegia type 29

Disease definition

A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.

ORPHA:101009

Classification level: Disorder
  • Synonym(s):
    • SPG29
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent
  • ICD-10: G11.4
  • ICD-11: 8B44.00
  • OMIM: 609727
  • UMLS: C1857855
  • MeSH: C536863
  • GARD: 9729
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017) Polski (2017, pdf)

Detailed information

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Disease review articles

Disability

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

Additional information

Further information on this disease

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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.