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hereditary spastic paraplegia 9A

Disease Summary
Associated Targets (1)
Tbio

1


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. SPG9A patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency.
Mondo Term and Equivalent IDs
MONDO:0011006:  hereditary spastic paraplegia 9A
MESH:C536868: 
Orphanet:447753: 
UMLS:CN237701: