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GENATLAS PHENOTYPE

last update : 09-12-2016

Symbol	SPG73
Location	19q13.33
Name	Spastic paraplegia 73
Corresponding gene	CPT1C
Main clinical features	pure spastic paraplegia, the mean age at onset was 35 years (range 19-48 years), and the disorder was slowly progressive, resulting in gait impairment or loss of ambulation 10 to 15 years later spasticity of the lower limbs, proximal muscle weakness, mild muscle atrophy, hyperreflexia with extensor plantar responses, decreased vibratory sense at the ankles, and mild urinary dysfunction peripheral nerve conduction studies, cognitive function, and brain imaging were normal
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)