Autosomal dominant spastic paraplegia type 17 (Q100911)
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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 |
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| 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). |
Statements
CID11:ID_465472056
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dki-india-ID_465472056
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Concluído
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15 August 2026
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