Mitochondrial membrane protein-associated neurodegeneration

Orpha code: 289560OMIM code: 614298

Definition

A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.

Disease data
Classification

Disease

Synonyms
MPAN
MPAN
NBIA z powodu mutacji C19orf12
NBIA4
Neurodegeneracja z gromadzeniem żelaza w mózgu typu 4
Neurodegeneracja z gromadzeniem żelaza w mózgu z powodu mutacji C19orf12
NBIA due to C19orf12 mutation
NBIA4
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Neurodegeneration with brain iron accumulation type 4
ORPHA code
289560
OMIM code
614298
ICD10 code
G23.0
ICD11 code
-

No additional description.

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