Autosomal recessive spastic paraplegia type 76
Autosomal recessive spastic paraplegia type 76
Definition
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.
Also known as autosomal recessive complex spastic paraplegia caused by mutation in CAPN1, CAPN1 autosomal recessive complex spastic paraplegia, hereditary spastic paraplegia type 76, spastic paraplegia 76, autosomal recessive, SPG76 — per MONDO