What is the life expectancy of someone with myotonic dystrophy?

We found a median survival of 59–60 years for the adult-type myotonic dystrophy. Reardon et al. (1993) found a median survival of 35 years for the congenital type. Thus, patients with the adult-type of myotonic dystrophy have a considerably better prognosis than those with the congenital type.

What is the cause of myotonic dystrophy?

Myotonic dystrophy Type 1 is caused by a mutation in the DMPK gene. Type 2 myotonic dystrophy is caused by a mutation in the CNBP gene. Mutations in each of these genes involve a short segment of DNA that is abnormally repeated many times. This abnormal repetition forms an unstable region of the gene.

Is myotonic dystrophy life threatening?

Getting a Prognosis Often the disorder is mild and only minor muscle weakness or cataracts are seen late in life. At the opposite end of the spectrum, life-threatening neuromuscular, cardiac and pulmonary complications can occur in the most severe cases when children are born with the congenital form of the disorder.

What are the symptoms for myotonic muscular dystrophy?

Symptoms of myotonic dystrophy might include difficulty releasing one’s grip (myotonia), weakness of muscles in the hands and feet, difficulty swallowing and abnormal heart rhythms. Non-muscle symptoms may also include learning difficulties, daytime sleepiness, infertility and early cataracts.

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.

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.

Are you born with myotonic dystrophy?

Congenital myotonic dystrophy is often apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot ), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.

What is the difference between muscular dystrophy and myotonic 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.

Does Myotonic Dystrophy affect the brain?

It is now accepted that Myotonic Dystrophy can directly affect the brain. There are well described changes in structure which are visible on scans.

Does Myotonic Dystrophy run in families?

Men and women are equally likely to pass on Myotonic Dystrophy to their children. Myotonic Dystrophy is a genetic disease and so can be inherited by the child of an affected parent if they receive the mutation in the DNA from the parent. The disease can be passed on and inherited equally by both sexes.

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