Autosomal recessive spastic paraplegia type 75

Orpha code: 459056OMIM code: 616680

Definicja

Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

Disease data
Klasyfikacja

Disease

Synonimy
SPG75
SPG75
Kod ORPHA
459056
Kod OMIM
616680
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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