Orphanet: Autosomal recessive spastic paraplegia type 14

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Autosomal recessive spastic paraplegia type 14

Disease definition

Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.

ORPHA:100995

Classification level: Disorder

Synonym(s):
- SPG14
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Adult
ICD-10: G11.4
OMIM: 605229
UMLS: C1854568
MeSH: C537486
GARD: 9589
MedDRA: -

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Autosomal recessive spastic paraplegia type 14

ORPHA:100995

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