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Transcript of Myotonic Dystrophy
and the heart. There are two types of myotonic dystrophy: Type 1
and Type 2. Type 2 is milder than Type 1 and can be identified at
birth. Both involve trouble relaxing muscles after use. So, what causes Myotonic Dystrophy? Type 1 myotonic dystrophy is caused by a mutation is the DMPK gene, which is responsible for communication within cells, providing correct functioning within the heart, brain and muscles.
Type 2 myotonic dystrophy is caused by a mutation in the CNBP gene which controls the protiens found in the heart and skeletal muscles.
Both types involve part of the DNA uncharacteristically repeated many times. This produces an altered form of RNA, which interferes with production of protiens. Who has Myotonic Dystrophy?
How do they know? About 1 in every 8000 people have Myotonic Dystrophy. 98% of all cases are Type 1 Myotonic Dystrophy. People who have this disease usually have at least one infected parent as well. Different ethnic groups (such as people with Germanic heritage) have a higher probability to get Myotonic Dystrophy.
A careful review of a patient's family history involving Myotonic Dystrophy can help doctors indentify it, as well as a physical examination.
Doctors also use these tools to diagnose Myotonic Dystrophy:
Blood test- Test blood to find an abnormal amount of an enzyme called creatine kinase, usually released by damaged muscles.
Electromyography- Putting a needle into the muscle, doctors can moniter muscle activity as you tighten or relax.
Ultrasonography- High frequency sound waves can produce a picture of the muscles.
Muscle biopsy- A small sample of muscle is taken into a lab for testing.
Genetic testing- DNA is tested for mutations. What happens to people with Myotonic Dystrophy? Symptoms include:
Lack of coordination
Loss of mobility
Intellectual disabilites Example: A person with Myotonic Dystrophy might put their hand around a door knob and find that their muscles have tightened up that they cannot remove it. Can Myotonic Dystrophy be cured? There is no way to prevent Myotonic Dystrophy, except for a person affected by it to not have any children, for they might develop the disease. Genetic research is being done to find a cure for Myotonic Dystrophy. Celebrity, Jerry Lewis has a telethon every year to raise money for children with this disease. In the meantime, there are treatments as well as medication that help people with myotonic dystrophy.
Assistive devices, such as braces, walkers, wheelchairs, and possibly venilatiors. How can I help people with myotonic dystrophy? People with myotonic disease live hard lives. Because of this, most go to support groups with medical experts, family members of those who have this disease, and people who have it themselves.
If you would like to make a donation to the cause, you can donate to the MDA (more information, go to http://www.mda.org)
Myotonic Dystrophy (also known as Muscular Dystrophy) is a hard disease to live with. With your help we can make a difference in someone's life. Jerry Lewis with child who
has mytonic dystrophy at
annual telethon. A way to