Autosomal dominant spastic paraplegia type 3 (Q100878): Difference between revisions
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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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/39845134 / rank | |||||||||||||||
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CID11:ID_39845134 | |||||||||||||||
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dki-india-ID_39845134 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest 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 |
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| default for all languages | ID_39845134 |
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| 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. |
Statements
CID11:ID_39845134
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dki-india-ID_39845134
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Concluído
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15 August 2026
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