Iconic comedian Gilbert Gottfried died on Tuesday after what his family said was “a long illness.” His representative said Gottfried’s death was caused by a heart rhythm issue called recurrent ventricular tachycardia, which resulted from myotonic dystrophy type II. What is this rare disease?
What is myotonic muscular dystrophy?
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.
What illness is MD?
The muscular dystrophies (MD) are a group of inherited genetic conditions that gradually cause the muscles to weaken, leading to an increasing level of disability. MD is a progressive condition, which means it gets worse over time.
What is Type 2 myotonic dystrophy?
Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness.
What is the life expectancy of myotonic dystrophy?
The median survival was 60 years for males and 59 years for females. Survival of the patients was also estimated from the age of 15 years to the ages of 25, 45 and 65 years and compared with the expected survival of age- and sex-matched birth cohorts from the normal Dutch population.
What causes muscular dystrophy?
MD is caused by mutations (alterations) in the genes responsible for healthy muscle structure and function. The mutations mean that the cells that should maintain your muscles can no longer fulfil this role, leading to muscle weakness and progressive disability.
How does someone get myotonic dystrophy?
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.
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.
What are the signs of muscular dystrophy in adults?
- Muscle weakness.
- Difficulty walking.
- Frequent falling.
- Difficulty getting up from a lying or sitting position.
- Limited movement at certain joints (called contracture)
- Heart problems.
- Problems with breathing and swallowing.
- Muscle pain or stiffness.
Can a woman with muscular dystrophy have a baby?
For women whose muscular dystrophy affects their hearts, pregnancy is not advised. In all cases, it’s important to have a team of doctors who are familiar with treating women with muscular dystrophy-especially at the time of delivery-in order to ensure the best possible outcome for the mother and baby.
Can a man with muscular dystrophy have a baby?
DMD carriers are at risk for cardiomyopathy. Although DMD often runs in a family, it is possible for a family with no history of DMD to suddenly have a son with the disease.
Is muscular dystrophy fatal?
Some types of muscular dystrophy, such as Duchenne muscular dystrophy in boys, are deadly. Other types cause little disability and people have a normal lifespan.
Is myotonic dystrophy a terminal illness?
DM1 is much more variable and the prognosis for an affected individual is difficult to predict. Some people may experience only mild stiffness or cataracts in later life. In the most severe cases, respiratory and cardiac complications can be life-threatening even at an early age.
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).
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.
How old is the oldest person with muscular dystrophy?
The oldest DMD patient he knows is a 54-year-old man in the Netherlands, who had two brothers with Duchenne; one died at 15, the other at 41. “I know quite a few older people with Duchenne who have all sorts of different mutations,” Rey-Hastie said.
Does myotonic dystrophy affect the brain?
Importance Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy observed in adults, is a genetic multisystem disorder affecting several other organs besides skeletal muscle, including the brain.
What does myotonia feel like?
The main symptom of myotonia congenita is stiff muscles. When you try to move after being inactive, your muscles spasm and become rigid. Your leg muscles are most likely to be affected, but the muscles of your face, hands, and other parts of your body can also get stiff. Some people have only mild stiffness.
What part of the body does muscular dystrophy affect?
Muscles around the eyes and mouth are often affected first, followed by weakness around the shoulders, chest, and upper arms. A particular pattern of muscle wasting causes the shoulders to appear to be slanted and the shoulder blades to appear winged. Muscles in the lower extremities may also become weakened.
What is the survival rate of muscular dystrophy?
Median survival in the overall dataset was 22.0 years (95% CI 21.2, 22.4), but survival rates have increased over time, with a median survival of 28.1 years (95% CI 25.1, 30.3) in patients born after 1990. These results are consistent with other recent work.
What are 3 types of muscular dystrophy?
- Duchenne Muscular Dystrophy.
- Becker Muscular Dystrophy.
- Congenital Muscular Dystrophy.
- Myotonic Muscular Dystrophy.
- Limb-Girdle Muscular Dystrophy.
- Facioscapulohumeral Muscular Dystrophy.
- Emery–Dreifuss Muscular Dystrophy.
- Distal Muscular Dystrophy.
Can myotonic dystrophy be cured?
There is currently no cure or specific treatment for myotonic dystrophy. Ankle supports and leg braces can help when muscle weakness gets worse. There are also medications that can lessen the myotonia. Other symptoms of myotonic dystrophy such as the heart problems, and eye problems (cataracts) can also be treated.
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.
How do you test for myotonia?
Myotonia can be diagnosed by an electromyogram (EMG). An EMG is done by inserting fine needles into a muscle and recording electrical activity inside muscle cells. DM is de- scribed as being mild, classical or congenital based on the severity and age of onset of symptoms (See Table 1).
How fast does myotonic dystrophy progress?
DM1 can develop at birth (congenital form), during childhood (juvenile form) and during adulthood (adult form). The adult form is the most common form and usually begins in a person’s 30s. Generally, the signs and symptoms of these disorders progress slowly. This is the most common form of myotonic dystrophy.