Orphanet: Autosomal dominant spastic paraplegia type 73

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Autosomal dominant spastic paraplegia type 73

Disease definition

A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.

ORPHA:444099

Classification level: Disorder

Synonym(s):
- SPG73
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Adult
ICD-10: G11.4
ICD-11: 8B44.00
OMIM: 616282
UMLS: C5568981
MeSH: -
GARD: -
MedDRA: -

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Article for general public
Français (2015, pdf) - Fondation Groupama

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Disability factsheet
Français (2018, pdf) - Orphanet

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Autosomal dominant spastic paraplegia type 73

ORPHA:444099

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

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