Late infantile autosomal recessive myotonia is a disease that affects people in their childhood who are usually around 5-7 years old. People with this disease experience myotonia, which means that they cannot relax their muscles at will. The myotonia affects muscles in the legs and arms, causing painful spasms and making it hard to walk. As a result, they have a rigid gait. They are shorter than average height and have curved spines (scoliosis). The disease also causes mild to moderate developmental delays. Other symptoms include difficulty swallowing and a condition called pectus carinatum, where the sternum and ribs stick out from the chest.
People get this disease when they inherit two copies of a mutated gene, one from each parent. If both parents carry the mutation, they have a 25% chance of having an affected child. The disease is diagnosed when a doctor observes the symptoms and analyzes a family history of the disease. There is no standard treatment. If you or a family member has been diagnosed with late autosomal recessive myotonia, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Jan 15, 2018