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hereditary spastic paraplegia 10

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.
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:0011408:  hereditary spastic paraplegia 10
GARD:0009590: 
MESH:C537482: 
Orphanet:100991: 
SCTID:732948003: 
UMLS:C1858712: 
UMLS:C4518536: