Autosomal recessive spastic paraplegia type 70

Orpha code: 401835OMIM code:

Definition

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
Classification

Disease

Synonyms
SPG70
SPG70
ORPHA code
401835
OMIM code
-
ICD10 code
G11.4
ICD11 code
-

No additional description.

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