Myotonic Dystrophy

Symptoms

What are the main symptoms of myotonic dystrophy?

While there are two types of myotonic dystrophy (DM) there are a variety of symptoms which overlap between the two. These symptoms affect different muscles in the body. Mutations in the gene cause muscle weakness which can vary from only the neck and arms to other muscles, like the legs. Some individuals also have myotonia, which is a stiffness that happens when muscles are activated and cannot relax. Other symptoms include: a specific type clouding of a lens in the eye (cataracts), abnormal heartbeats because the electrical signals that control the heart are not working properly, diabetes, trouble swallowing, fatigue, and decreased muscle tone in the face. While DM affects both males and females, some men can develop problems with hormone levels which leads them to lose their hair at a young age (early balding), and/or problems conceiving children (infertility).

Many of the symptoms described overlap between the two types of DM. However, individuals with DM2 tend to have milder symptoms than those with DM1. Individuals with DM1 have muscle weakness in their hands, neck, face, and the lower part of their legs, this is known as the outer extremities. While, individuals with DM2 mostly have muscle problems with what is known as the upper extremities, which includes the neck, shoulders, elbows, and hips. Myotonic dystrophy type 1 can have a wide range of how symptoms can present. It can have a mild presentation, in which a person develops cataracts and some problems with myotonia, versus the classic form where an individual can show a lot more symptoms such as: muscle weakness, myotonia, cataracts, heart problems, and balding or infertility in males. The most severe form of DM1 affects babies, it is known as congenital myotonic dystrophy. Babies are often born with weak muscles, breathing problems, clubfeet, developmental delay, and intellectual disability. Since these symptoms are severe they have a big impact on the baby's life. The variety in how someone expresses these symptoms has a lot to do with how the gene which causes DM is changed. If there is a bigger change it causes more severe symptoms. To learn more, speak with your doctor or genetic counselor.

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Is there anything that I can be exposed to that will make myotonic dystrophy worse?

Are their different types of myotonic dystrophy?

If you have mytonic dystrophy will you always show symptoms?

Are there different forms of myotonic dystrophy?

What health problems should my doctor watch out for in myotonic dystrophy?

Any other diseases that look a lot like myotonic dystrophy?

Are there any "odd" or "unsual" symptoms or clincal features of myotonic dystrophy?

Is there anything that I can be exposed to that will make myotonic dystrophy worse?

There are several types of medications that can make myotonic dystrophy or its related medical issues worse. The wrong medication at the wrong time, can lead to serious, life-threatening health complications. Accordingly, all new medications given to a person with myotonic dystrophy should be double checked for possible negative side effects when combined with the health issues of myotonic dystrophy. Before taking a new medication, a person with myotonic dystrophy should discuss in detail all possible side effects with their doctor and pharmacist. Some medications to avoid include:

Statins: Individuals with myotonic dystrophy should avoid medications used to lower cholesterol levels, most commonly known as statins. These medications can cause muscle pain and weakness.

General Anesthesia: Use of general anesthesia such as vecuronium for surgery in patients with myotonic dystrophy can be very dangerous. Complications from general anesthesia medications can happen even in people with mild health issues. Local anesthesia should be used when possible as general anesthesia can cause abnormal heart rhythms (cardiac rhythm disturbances) and increased risk of sudden cardiac arrest, even with implanted pacemakers or other heart devices. There is an excellent article by Campbell et al. that discusses use of anesthesia and possible negative results and can be given to doctors at a surgical consult BEFORE the day of surgery: [link]http://muscle.ca/wp-content/uploads/2012/11/2.4_Anesthesia-Guidelines_Myotonic_EN.pdf[\link] . The Myotonic Dystrophy Association also has updated guidelines for doctors giving anesthesia on their website: http://www.myotonic.org/mdf-releases-updated-anesthesia-guidelines

Opiates: Use of opioid medications like Morphine that can have respiratory side effects should be used very carefully as they can lead to severe breathing problems (respiratory failure) as well as saliva and other fluids being drawn into the lungs (aspirated) that can lead to infections.

Class I anti-arrhythmic agents- Class I anti-arrhythmic agents like encainide (Enkaid), flecainide (Tambocor), propafenone (Rythmol), moricizine (Ethmozine), and mexiletine should be avoided because they cause heart blocks and increase the risk of death or heart attack. Other anti-arrhythmic medications like amiodarone should also be avoided for the same reason.

Beta-blockers- Beta blockers should be used with extreme caution because they can lower heart rate to beat too slowly to move enough oxygenated blood through the body (bradycardia).

References
  • "Myotonic Dystrophy Type 1". GeneReviews. 22 Oct. 2015. Web. 23 March. 2016. http://www.ncbi.nlm.nih.gov/books/NBK1165/#myotonic-d.Genetically_Related_Allelic_D
  • "Myotonic Dystrophy Type 2". GeneReviews. 3 Jul. 2013. Web. 23 March. 2016. http://www.ncbi.nlm.nih.gov/books/NBK1466/
  • Orphanet "myotonic dystrophies"https://www.orpha.net/data/patho/Pro/en/Myotonic-dystrophies_EN.pdf
  • Campbell et al "Anesthesia Guidelines in Myotonic dystrophy" http://muscle.ca/wp-content/uploads/2012/11/2.4_Anesthesia-Guidelines_Myotonic_EN.pd
  • Myotonic Dystrophy Association also has updated guidelines for doctors on their website: http://www.myotonic.org/mdf-releases-updated-anesthesia-guidelines
Are their different types of myotonic dystrophy?

There are 2 types of DM which are myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). Many of the same symptoms are seen in individuals with DM1 and DM2. However, individuals with DM2 usually have milder symptoms than those with DM1. Individuals with DM2 commonly have muscle problems with their upper extremities, which includes the neck, shoulders, elbows, and hips. While individuals with DM1 commonly have muscle weakness in their hands, neck, face, and the lower part of their legs, known as the outer extremities. Myotonic dystrophy type 1 shows a wider range of symptoms and can have a mild, classic, and congenital presentation. In the mild presentation, a person can develop cataracts and myotonia. In the classic form of the DM1 and individual can show a lot more symptoms such as: muscle weakness, myotonia, cataracts, heart problems, and balding or infertility in males. The most severe form of DM1 affects babies, known as congenital myotonic dystrophy. Babies are often born with weak muscles, breathing problems, clubfeet, developmental delay, and intellectual disability. Since these symptoms are severe they have a big impact on the baby's life. The variety in how someone expresses these symptoms has a lot to do with how the gene which causes DM is changed. If there is a bigger change it causes more severe symptoms. To learn more, speak with your doctor or genetic counselor.

If you have mytonic dystrophy will you always show symptoms?

The majority of individuals with myotonic dystrophy will show symptoms when they are adults; however, the symptoms can vary. For example, the majority of individuals with myotonic dystrophy type 1 will show symptoms by the time they are 50 years old. Since the symptoms of myotonic dystrophy type 2 can be very mild, it is a balance of being aware of what to look for and recognizing the symptoms especially when there is a family history of the disease. To learn more about the symptoms of DM, speak with your doctor.

References
  • "Myotonic Dystrophy Type 1". GeneReviews. 22 Oct. 2015. Web. 23 March. 2016. http://www.ncbi.nlm.nih.gov/books/NBK1165/#myotonic-d.Genetically_Related_Allelic_D
  • "Myotonic Dystrophy Type 2". GeneReviews. 3 Jul. 2013. Web. 23 March. 2016.http://www.ncbi.nlm.nih.gov/books/NBK1466/
Are there different forms of myotonic dystrophy?

There are different forms of myotonic dystrophy within type 1. You can have mild, classic, and congenital form of the disease. In the mild presentation, a person can develop cataracts and myotonia. In the classic form of the DM1 and individual can show a lot more symptoms such as: muscle weakness, myotonia, cataracts, heart problems, and balding or infertility in males. The most severe form of DM1 affects babies, known as congenital myotonic dystrophy. Babies are often born with weak muscles, breathing problems, clubfeet, developmental delay, and intellectual disability. Since these symptoms are severe they have a big impact on the baby's life. The variety in how someone expresses these symptoms has a lot to do with how the gene which causes DM is changed. If there is a bigger change it causes more severe symptoms. To learn more about the symptoms, visit: DM Symptoms

References
What health problems should my doctor watch out for in myotonic dystrophy?

Important signs of myotonic dystrophy that your doctor should look for include: muscle pain (mostly in the lower extremities), problems with stiffness or relaxing a muscle, cataracts, fatigue, problems with swallowing, diabetes type 2, infertility, early male balding, and heart problems that have to do with electrical pathways (ex. arrhythmias). This is a long list of common symptoms that are suspicious of DM when someone is experiencing several of these symptoms, with the muscle issues being the most important. If you have multiple of these symptoms, speak with your physicians.

References
  • "Myotonic Dystrophy Type 1". GeneReviews. 22 Oct. 2015. Web. 23 March. 2016. http://www.ncbi.nlm.nih.gov/books/NBK1165/#myotonic-d.Genetically_Related_Allelic_D
  • "Myotonic Dystrophy Type 2". GeneReviews. 3 Jul. 2013. Web. 23 March. 2016.http://www.ncbi.nlm.nih.gov/books/NBK1466/
Any other diseases that look a lot like myotonic dystrophy?

There are many other of diseases that cause muscle weakness and can look like myotonic dystrophy. It is important to visit a doctor and have a proper evaluation if someone is concerned about having a muscle disease.

References
Are there any "odd" or "unsual" symptoms or clincal features of myotonic dystrophy?

An "unusual" sign of myotonic dystrophy is when someone is having problems relaxing their muscles. Examples include when someone has a hard time letting go of a handshake, or can't easily let of of items they are holding (ex. Shovel). If you experienced this, speak with your doctor.

References

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