Hypermanganesemia with dystonia polycythemia and cirrhosis
Type of disease: Rare conditions
Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a rare genetic disorder that affects the amount of manganese in the body. Manganese is an element that helps the body form connective tissue, bone, and hormones. It helps your body maintain normal brain and nerve function. In HMDPC, there is too much manganese built up in the brain, liver, and blood. The manganese collects in the part of the brain that usually works to coordinate movement, making it difficult for individuals to control movement.
HMDPC is a genetic condition caused by a change (mutation) in the SLC30A10 gene. HMDPC is passed down from parent to child in an autosomal recessive manner. This means one mutation from each parent is inherited in order to cause symptoms. A person with only one mutation is called a carrier because they “carry” one changed copy of the gene. Carriers also show no signs or symptoms of the condition. If both parents are carriers, each of their children has a one in four chance (25%) of having the condition and a 50/50 chance of being a carrier.
Symptoms of HMDPC differ based on whether the condition develops during childhood or adulthood. For the early-onset form that starts during childhood, symptoms include tense muscle movements in the arms and legs, trembling that cannot be controlled, slow movement, and slurred speech. For the adult-onset form, symptoms include slow movement, uncontrollable trembling, muscle rigidity, and problems keeping the body up straight and balanced. Some individuals may also have more red blood cells than usual, low levels of iron, an enlarged liver, liver scarring, and liver disease.
Doctors can diagnose HMDPC by looking at clinical symptoms and taking images of the brain, measuring manganese levels in the blood, and taking red blood cell counts. If you or a family member has been diagnosed with HMDPC, talk with your doctor about the most current treatment options.