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hereditary spastic paraplegia 39

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.
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. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles.
Mondo Term and Equivalent IDs
MONDO:0012787:  hereditary spastic paraplegia 39
GARD:0004924: 
MESH:C567433: 
Orphanet:139480: 
SCTID:719103009: 
UMLS:C2677586: 
UMLS:C4304963: