Autosomal recessive spastic paraplegia type 70

Orpha code: 401835OMIM code:

Definicja

Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.

Disease data
Klasyfikacja

Disease

Synonimy
SPG70
SPG70
Kod ORPHA
401835
Kod OMIM
-
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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