Autosomal dominant spastic paraplegia type 17 (Q100911): Difference between revisions
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Pacientes com paraplegia espástica tipo 17 desenvolvem paraplegia espástica associada a fraqueza distal de membros superiores com atrofia muscular. Idade de início é diversa, variando da primeira a sétima década. A gravidade da síndrome varia dentro das famílias. A fraqueza é lentamente progressiva e os pacientes podem permanecer ambulantes. A doença é causada pela mutação no gene BSCL2 (11q12.3). | |||
| description / en | description / en | ||
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). | |||
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 |
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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). |
