Catalog

Autosomal dominant spastic paraplegia type 17

No MMS code

Link to WHO Definition

Autosomal dominant spastic paraplegia type 17 – http://id.who.int/icd/entity/465472056

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).