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hereditary spastic paraplegia 6

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
Uniprot Description A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Mondo Term and Equivalent IDs
MONDO:0010878:  hereditary spastic paraplegia 6
GARD:0004928: 
MESH:C536866: 
Orphanet:100988: 
SCTID:732949006: 
UMLS:C1838192: 
UMLS:C4518537: