Overview
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare inherited brain disorder that belongs to a group of conditions called neurodegeneration with brain iron accumulation (NBIA). In MPAN, abnormal amounts of iron build up in specific areas of the brain, particularly a region called the basal ganglia, which helps control movement. This iron buildup gradually damages brain cells over time. MPAN is caused by changes (mutations) in the C19orf12 gene, which provides instructions for making a protein found in the membranes of mitochondria — the energy-producing structures inside cells. When this protein does not work properly, iron accumulates in the brain and causes progressive neurological problems. The main symptoms include difficulty walking and movement problems (such as stiffness, involuntary muscle contractions called dystonia, and spasticity), speech difficulties, vision loss due to optic nerve damage, and a gradual decline in thinking and memory skills. Psychiatric symptoms like depression, anxiety, and behavioral changes are also common. The disease typically begins in childhood or young adulthood and worsens over time. Currently, there is no cure for MPAN, and treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, medications for movement problems, and supportive care are the main approaches used.
Also known as:
Key symptoms:
Difficulty walking and balance problemsMuscle stiffness and spasticityInvoluntary muscle contractions (dystonia)Slurred or difficult speechVision loss from optic nerve damageDecline in thinking and memory skillsPsychiatric symptoms like depression or anxietyBehavioral changesDifficulty swallowingBladder problemsTremor or involuntary movementsWeakness in the legsSeizures (in some cases)Progressive loss of independence
Clinical phenotype terms (26)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Mitochondrial membrane protein-associated neurodegeneration.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Mitochondrial membrane protein-associated neurodegeneration.
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Caregiver Resources
NORD Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How quickly is this disease likely to progress in my case or my child's case?,What therapies and medications can help manage the movement and psychiatric symptoms?,Should we consider deep brain stimulation, and if so, when?,Are there any clinical trials or research studies we can participate in?,How should we monitor for swallowing problems and when should we consider a feeding tube?,What specialists should be part of our care team, and how often should we see them?,Are other family members at risk, and should they be tested?
Common questions about Mitochondrial membrane protein-associated neurodegeneration
What is Mitochondrial membrane protein-associated neurodegeneration?
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare inherited brain disorder that belongs to a group of conditions called neurodegeneration with brain iron accumulation (NBIA). In MPAN, abnormal amounts of iron build up in specific areas of the brain, particularly a region called the basal ganglia, which helps control movement. This iron buildup gradually damages brain cells over time. MPAN is caused by changes (mutations) in the C19orf12 gene, which provides instructions for making a protein found in the membranes of mitochondria — the energy-producing structures ins
How is Mitochondrial membrane protein-associated neurodegeneration inherited?
Mitochondrial membrane protein-associated neurodegeneration follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Mitochondrial membrane protein-associated neurodegeneration?
2 specialists and care centers treating Mitochondrial membrane protein-associated neurodegeneration are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.