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hereditary spastic paraplegia 17

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.
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. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.
Disease Ontology Description A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.
Mondo Term and Equivalent IDs
MONDO:0010043:  hereditary spastic paraplegia 17
GARD:0004219: 
MESH:C536644: 
Orphanet:100998: 
UMLS:C2931276: 
UMLS:CN074197: