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
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.
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.
How do you treat myotonic dystrophy?
There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms of the disease. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain.
Is myotonic dystrophy serious?
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 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 part of the body does myotonic dystrophy affect?
Myotonic muscular dystrophy is a common multi-system disorder that affects the skeletal muscles (the muscles that move the limbs and trunk) as well as smooth muscles (the muscles that control the digestive system) and cardiac muscles of the heart.
Is myotonic dystrophy a terminal illness?
In the most severe cases, respiratory and cardiac complications can be life-threatening even at an early age. In general, the younger an individual is when symptoms first appear, the more severe symptoms are likely to be. However, prognosis is as variable as the symptoms of this disease.
Can you live a normal life with myotonic dystrophy?
The mild form of DM1 is characterized by mild weakness, myotonia, and cataracts. Age at onset is between 20 and 70 years (typically onset occurs after age 40), and life expectancy is normal.
Is myotonic dystrophy a disability?
If you have myotonic dystrophy (DM) and are unable to work due to a DM-related disability and/or other conditions, you may be entitled to Social Security Disability Insurance (SSDI) benefits or Supplemental Security Income (SSI) benefits available through the Social Security Administration (SSA).
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 affect the brain?
Is Myotonic Dystrophy a disability?