Autosomal recessive spastic paraplegia type 45

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Name:
Autosomal recessive spastic paraplegia type 45
Description:
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.
ORPHAcode:
320396
Synonyms:
Autosomal recessive spastic paraplegia type 65
SPG45
SPG65
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14