Autosomal recessive spastic paraplegia type 35 (Q99400): Difference between revisions
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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.
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| 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. |
