Dystonia 12

Overview

Type of disease: Rare conditions

Dystonia 12 is a rare genetic condition that is characterized by muscle contractions that cannot be controlled, as well as symptoms of Parkinson’s disease. Individuals usually experience twitching in different muscles, very slow movement, stiffness, difficulty staying straight and balanced, and difficulty walking normally. The symptoms make it hard to perform daily activities like walking and talking. The muscle contractions usually begin in the face and work their way down to the arms and the legs.

Individuals begin showing symptoms of dystonia 12 during childhood or the early teenage years. Some causes of symptoms are infections, physical stress, extreme heat, drinking a lot of alcohol, and emotional stress. Sometimes the symptoms will improve after about a month. Other times they will happen again a few years later and be much worse.

Dystonia 12 is inherited in an autosomal dominant manner. We inherit our genes in pairs, typically one from each parent. Our genes are what control the growth, development, and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal dominant means an individual inherits one copy of the changed gene, or mutation, in order to have the condition. If one parent carries a copy of the changed gene, their children have a 50% chance of having dystonia 12.

Doctors can diagnose dystonia 12 by looking at clinical symptoms, levels of different substances in the spinal fluid, images of the brain, and response to specific drugs. Currently, there is no treatment for this. If individuals experience seizures, anxiety, or depression, these can be treated with normal therapies. Physical therapy is recommended. Individuals with dystonia 12 live as long as individuals without it, but their quality of life may be worse. If you or a family member has been diagnosed with dystonia 12, talk with your doctor about the most current treatment options.

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