autosomal recessive spastic paraplegia type 76
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
CAPN1 autosomal recessive complex spastic paraplegia
exact
SPG76
exact
autosomal recessive complex spastic paraplegia caused by mutation in CAPN1
exact
hereditary spastic paraplegia type 76
exact
spastic paraplegia 76, autosomal recessive
exact