Myotonia atrophica

Dystrophia myotonica, Myotonia dystrophica, Steinert disease

Overview

Type of disease: Rare conditions

Myotonia atrophica, also known as myotonic dystrophy, make it difficult for individuals to relax their muscles at will. This can happen after grabbing a doorknob or shaking someone’s hand, and is known as myotonia. They also have progressive muscle wasting, where their muscles are slowly shrinking and weakening. There are two types of this disease. Type 1 starts earlier in life and affects the muscles in the lower legs, hands, neck, and face. Type 2 affects the neck, shoulders, elbows, and hips, and is less severe than type 1. People with myotonia atrophica may develop heart problems. In addition, many people with this disease also have cloudy spots in the lenses of their eyes known as cataracts. Symptoms usually start in a person's twenties or thirties, but can also occur earlier or later.

The symptoms of this disease can be very different depending on the individual's case, even between people of the same family. Some people may have severe symptoms while others’ experiences can be very mild. This disease is inherited in an autosomal dominant pattern. This means that to get the disease, a person needs to inherit one copy of a mutated gene from their parent. The chance of a parent with myotonic dystrophy having an affected child is 50%. In rare cases, some children can be born with type 1 of the disease, but their symptoms often improve once they survive the first few weeks. In general, treatment of myotonic dystrophy focuses on managing symptoms of the disease. If you or a family member has been diagnosed with myotonic dystrophy, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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