Autosomal recessive spastic paraplegia type 45

Orpha code: 320396OMIM code: 613162

Definicja

Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.

Disease data
Klasyfikacja

Disease

Synonimy
Autosomal recessive spastic paraplegia type 65
Autosomalna recesywna paraplegia spastyczna typu 65
SPG45
SPG65
SPG45
SPG65
Kod ORPHA
320396
Kod OMIM
613162
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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