What is myotonic disease?

Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. People who have myotonic dystrophy have muscle wasting and weakness in their lower legs, hands, neck and face that get worse over time.

What causes Steinert disease?

Type 1 DM (DM1), long known as Steinert disease, occurs when a gene on chromosome 19 called DMPK contains an abnormally expanded section located close to the regulation region of another gene, SIX5.

How does someone get myotonic dystrophy?

Myotonic dystrophy (DM) is inherited in an autosomal dominant pattern. This means that one copy of the altered gene in each cell of the body is enough to cause symptoms of the disease. We inherit one copy of each gene from our mother and the other from our father.

What are myotonic discharges?

1. Electrical myotonia is the spontaneous discharge of muscle fibers that waxes and wanes in both amplitude and frequency on electromyography (EMG). Myotonia is thought to be due to increased excitability of muscle fibers, leading to discharge of repetitive action potentials in response to stimulation.

What is the difference between myotonic dystrophy and muscular dystrophy?

Muscular dystrophy (MD) refers to a group of nine genetic diseases that cause progressive weakness and degeneration of muscles used during voluntary movement. Myotonic dystrophy (DM) is one of the muscular dystrophies. It is the most common form seen in adults and is suspected to be among the most common forms overall.

What organs does muscular dystrophy affect?

Many individuals eventually lose the ability to walk. Some types of MD also affect the heart, gastrointestinal system, endocrine glands, spine, eyes, brain, and other organs. Respiratory and cardiac diseases may occur, and some people may develop a swallowing disorder.

What is the difference between muscular dystrophy and myotonic dystrophy?

Is myotonic hereditary?

Both types of myotonic dystrophy are inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Is Myotonic Dystrophy painful?

MMD patients may experience painful muscle cramping because of myotonia, which is delayed relaxation or sustained contraction of the muscle fibers. Grip myotonia can be shown by delayed opening of the hand with difficulty extending the fingers after tight grip.

Is myotonic dystrophy painful?

What is the difference between myotonia congenita and myotonic dystrophy?

In myotonia congenita, unlike myotonic dystrophy, there is no element of progressive muscular weakness and wasting, cardiac disease, eye abnormalities, endocrine disturbances, or dementia. The life expectancy is the same in patients with myotonia congenita, both dominant and recessive, as in normal individuals.