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hereditary spastic paraplegia 77

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.
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.
Disease Ontology Description A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25.
Mondo Term and Equivalent IDs
MONDO:0014882:  hereditary spastic paraplegia 77
Orphanet:466722: 
UMLS:C4310750: