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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Mitochondrial membrane protein-associated neurodegeneration?
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NBIA Disorders Association
In our drive to find a cure for NBIA, we provide support to families, educate the public and accelerate research with collaborators from around the world.
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.
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.