Catalog

Autosomal recessive spastic paraplegia type 35

No MMS code

Link to WHO Definition

Autosomal recessive spastic paraplegia type 35 – http://id.who.int/icd/entity/807932315

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.