Mitochondrial membrane protein-associated neurodegeneration

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Mitochondrial membrane protein-associated neurodegeneration

Synonyms: MPAN | NBIA due to C19orf12 mutation | NBIA4 | Neurodegeneration with brain iron accumulation due to C19orf12 mutation | Neurodegeneration with brain iron accumulation type 4

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Mitochondrial membrane protein-associated neurodegeneration?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.