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Fatty acid hydroxylase-associated neurodegeneration
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Disease definition
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.
ORPHA:329308
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: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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