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Autosomal recessive spastic paraplegia type 76

MONDO:0014827

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: CAPN1 autosomal recessive complex spastic paraplegia, SPG76, autosomal recessive complex spastic paraplegia caused by mutation in CAPN1, hereditary spastic paraplegia type 76, spastic paraplegia 76, autosomal recessive, hereditary spastic paraplegia 76

14 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodegenerative disease (155) Neuromuscular disease (98) Central nervous system disorder (97) Paraplegia (37) Palsy (29) Syndromic disease (24) Hereditary spastic paraplegia (21)
Trials to join now! 5 Not yet recruiting 2 Not yet finished but already full! 2 Completed 5
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