Autosomal dominant spastic paraplegia type 17 (Q100911): Difference between revisions

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Latest revision as of 17:41, 16 August 2026

Patients with spastic paraplegia type 17 develop spastic paraplegia associated with distal upper limb weakness and muscle atrophy. Age of onset is variable ranging from the first to seventh decade. The severity of the syndrome varies within families. Weakness is slowly progressive and patients may remain ambulant. The disease is caused by mutation of the BSCL2 gene (11q12.3).

Language	Label	Description	Also known as
default for all languages	ID_465472056
English	Autosomal dominant spastic paraplegia type 17	Patients with spastic paraplegia type 17 develop spastic paraplegia associated with distal upper limb weakness and muscle atrophy. Age of onset is variable ranging from the first to seventh decade. The severity of the syndrome varies within families. Weakness is slowly progressive and patients may remain ambulant. The disease is caused by mutation of the BSCL2 gene (11q12.3).