Autosomal dominant spastic paraplegia type 3 (Q100878): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Paraplegia espástica autossômica dominante causada por defeito na proteína de ligação ao guanilato (ATL1) e se apresenta com início na infância de espasticidade minimamente progressiva, bilateral, principalmente simétrica dos membros inferiores e fraqueza associada a pés cavos, sensação de vibração diminuída, distúrbios do esfíncter e/ou bexiga urinária hiperativa. Manifestações adicionais associadas podem incluir escoliose, incapacidade intelectual leve, atrofia óptica, neuropatia motora axonal e/ou amiotrofia distal. | |||
| description / en | description / en | ||
Autosomal dominant spastic paraplegia caused by defect of guanylate-binding protein (ATL1) and presents with childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. | |||
Revision as of 17:39, 16 August 2026
Autosomal dominant spastic paraplegia caused by defect of guanylate-binding protein (ATL1) and presents with childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_39845134 |
||
| English | Autosomal dominant spastic paraplegia type 3 |
Autosomal dominant spastic paraplegia caused by defect of guanylate-binding protein (ATL1) and presents with childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. |
