Autosomal recessive spastic paraplegia type 35 (Q99400): 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 | ||
A paraplegia espástica autossômica recessiva, também conhecida como neurodegeneração associada à hidrolase de ácidos graxos, é um transtorno raro de início na infância, marcado por espasticidade progressiva de membros inferiores, hiperreflexia, distonia, disartria, atrofia óptica e convulsões. É causada por mutações no gene FA2H, levando a anormalidades da substância branca e a acúmulo cerebral de ferro. Os sintomas incluem transtornos do movimento, comprimetimento visual e declínio cognitivo, eventualmente levando a dependência de cadeira de rodas. Foram identificadas apenas algumas famílias com esta forma de neurodegeneração. | |||
| description / en | description / en | ||
Autosomal recessive spastic paraplegia, also known as fatty acid hydrolase-associated neurodegeneration (FAHN), is a rare childhood-onset disorder marked by progressive spasticity, hyperreflexia, dystonia, dysarthria, optic atrophy, and seizures. It is caused by mutations in the FA2H gene, leading to white matter abnormalities and brain iron accumulation. Symptoms include movement disorders, visual impairment, and cognitive decline, eventually leading to wheelchair dependence. Only a few families with this form of neurodegeneration have been identified. | |||
Revision as of 16:04, 16 August 2026
Autosomal recessive spastic paraplegia, also known as fatty acid hydrolase-associated neurodegeneration (FAHN), is a rare childhood-onset disorder marked by progressive spasticity, hyperreflexia, dystonia, dysarthria, optic atrophy, and seizures. It is caused by mutations in the FA2H gene, leading to white matter abnormalities and brain iron accumulation. Symptoms include movement disorders, visual impairment, and cognitive decline, eventually leading to wheelchair dependence. Only a few families with this form of neurodegeneration have been identified.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_807932315 |
||
| English | Autosomal recessive spastic paraplegia type 35 |
Autosomal recessive spastic paraplegia, also known as fatty acid hydrolase-associated neurodegeneration (FAHN), is a rare childhood-onset disorder marked by progressive spasticity, hyperreflexia, dystonia, dysarthria, optic atrophy, and seizures. It is caused by mutations in the FA2H gene, leading to white matter abnormalities and brain iron accumulation. Symptoms include movement disorders, visual impairment, and cognitive decline, eventually leading to wheelchair dependence. Only a few families with this form of neurodegeneration have been identified. |
