/hereditary spastic paraplegia 45

hereditary spastic paraplegia 45

Rare Disease

MONDO:0013165

Also Known As

NT5C2 autosomal recessive complex spastic paraplegiaSPG45SPG65autosomal recessive complex spastic paraplegia caused by mutation in NT5C2autosomal recessive spastic paraplegia 45autosomal recessive spastic paraplegia type 45autosomal recessive spastic paraplegia type 65hereditary spastic paraplegia type 45spastic paraplegia 45, autosomal recessive

Definition

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.