/autosomal recessive spastic paraplegia type 76

autosomal recessive spastic paraplegia type 76

Rare Disease

MONDO:0014827

Also Known As

CAPN1 autosomal recessive complex spastic paraplegiaSPG76autosomal recessive complex spastic paraplegia caused by mutation in CAPN1autosomal recessive spastic paraplegia 76hereditary spastic paraplegia type 76spastic paraplegia 76, autosomal recessivehereditary spastic paraplegia 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.