Fatty acid hydroxylase-associated neurodegeneration

Orpha code: 329308OMIM code: 612319

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
FAHN
FAHN
Kod ORPHA
329308
Kod OMIM
612319
Kod ICD10
G23.0
Kod ICD11
-

No additional description.

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