MEPAN syndrome

MEPAN syndrome stands for Mitochondrial Enoyl CoA Reductase Protein Associated Neurodegeneration. It is a very rare inherited brain disease that affects how nerve cells in the brain work and survive over time. The condition is caused by changes (mutations) in a gene called MECR, which helps the body make fatty acids inside the mitochondria — the tiny power plants inside every cell. When this gene does not work properly, certain parts of the brain, especially an area called the basal ganglia, begin to break down over time. This places MEPAN syndrome in a group of conditions called neurodegeneration with brain iron accumulation (NBIA). Children with MEPAN syndrome usually appear healthy at birth but begin showing symptoms in early childhood, most often between ages 3 and 10. The most common problems include difficulty with movement and coordination, involuntary muscle movements (dystonia), vision loss due to damage to the optic nerve, and in some cases, intellectual challenges. The disease tends to get worse slowly over time, though the speed varies from person to person. Right now there is no cure for MEPAN syndrome. Treatment focuses on managing symptoms, especially movement problems and vision changes. Some early research suggests that a supplement called pantothenate (vitamin B5) may help slow the disease in some patients, and this is an active area of investigation. A team of specialists is usually needed to provide the best care.

Bring these to your next appointment

• Q1.What stage is my child's disease at, and what changes should I watch for over the next year?,Should my child be tested for MECR mutations, and should other family members be tested too?,Is pantothenate supplementation something we should consider, and what does the current evidence say?,What medications are available to help manage dystonia, and what are the risks and benefits?,Are there any clinical trials or research studies that my child might be eligible for?,What therapies — physical, occupational, or speech — would you recommend, and how often should we attend?,How should we prepare an emergency plan if my child has a sudden worsening of symptoms?

Common questions about MEPAN syndrome