/hereditary spastic paraplegia 54

hereditary spastic paraplegia 54

Rare Disease

MONDO:0014018

Also Known As

DDHD2 autosomal recessive complex spastic paraplegiaSPG54autosomal recessive complex spastic paraplegia caused by mutation in DDHD2autosomal recessive spastic paraplegia 54autosomal recessive spastic paraplegia type 54hereditary spastic paraplegia type 54spastic paraplegia 54, autosomal recessive

Definition

A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.