Explore
Myotonic Dystrophy (DM) Medical Management As yet, there is not a specific treatment that “gets at the root” of type 1 or type 2 myotonic dystrophy (DM1, DM2). Treatment is aimed at managing symptoms and minimizing disability. This section first addresses medical management of the many symptoms of adult-onset DM1/DM2 and childhood-onset DM1.
What is the prognosis for people with myotonic dystrophy?
Aug 21, 2017 · 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. Canes, braces, walkers, and scooters can help as muscle weakness progresses.
Does muscular dystrophy have a cure?
Treatment Myotonic dystrophy. Treatment. Although there is currently no cure for myotonic dystrophy, there are ways to help manage the condition. Printer-friendly version. Since many doctors are unfamiliar with the condition (because it is so rare), it is essential that people who have myotonic dystrophy are aware of the problems and complications they may face and …
How can myotonic dystrophy affect your health?
1 day ago · If you have an abnormal heart rhythm from myotonic dystrophy, your doctor may suggest a pacemaker, an implantable defibrillator, or medication. They can also treat other heart issues that might be...
What are the most common myotonic dystrophy symptoms?
Jul 05, 2017 · 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.
Is there a cure coming soon for myotonic dystrophy?
Myotonic dystrophy is a long-term genetic disorder that affects muscle function. It is the most common form of muscular dystrophy in adults and affects about one in 8,000 people. There is currently no treatment available.Apr 29, 2020
How long can you live 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 does someone get myotonic dystrophy?
Both types of myotonic dystrophy are inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
How serious is myotonic muscular dystrophy?
In congenital DM1, which affects children from the time of birth, there can be serious impairment of cognitive functioning. These children also may have problems with speech, hearing,16 and vision fatigue. Generally, the earlier DM1 begins, the more profound the symptoms tend to be. For more, see Signs and Symptoms.
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.
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.
What does myotonic dystrophy look like?
A long, thin face with hollow temples, drooping eyelids and, in men, balding in the front, is typical in myotonic dystrophy. The muscles of the neck, jaw, and parts of the head and face may weaken, especially in DM1. Facial weakness is less common and milder in DM2.
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.
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.
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).
Who is at risk for myotonic dystrophy?
The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.
What is myotonic dystrophy?
Listen. Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, ...
Is myotonic dystrophy inherited?
Myotonic dystrophy (DM) is inherited in an autosomal dominant pattern. [1] . This means that one copy of the altered gene in each cell of the body is enough to cause symptoms of the disease. We inherit one copy of each gene from our mother and the other from our father.
What is the difference between myotonic dystrophy type 1 and type 2?
People with myotonic dystrophy type 1 typically experience involvement of the legs, hands, neck, and face, while people with myotonic dystrophy type 2 typically experience involvement of the neck, shoulders, elbows, and hips. The severity of symptoms can vary widely among affected people. [1]
Is myotonic dystrophy a progressive disease?
Listen. The long-term outlook ( prognosis) for each person with myotonic dystrophy (including life expectancy) may depend on the type of myotonic dystrophy and the specific medical problems present. Myotonic dystrophy is a progressive disease, meaning that symptoms worsen as a person gets older.
What is the definition of anticipation?
Anticipation means the signs and symptoms of a genetic disease begin earlier in life and become more severe as the disease is passed on through generations. Congenital myotonic dystrophy type 1 occurs only when the disease is inherited from the mother. Last updated: 1/3/2018.
What is a registry for research?
A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Myotonic dystrophy. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.
Why is research important?
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
What are the risks with anesthetics?
Operations and anaesthetics can be risky, even for people mildly affected. It is very important that surgeons and anaesthetists know that a person has myotonic dystrophy before any surgery is planned. Problems only usually occur when doctors are unaware of the condition.
Related health issues
Many people can develop heart problems, which are commonly treatable but can be serious if ignored. Speak to your neurologist or GP about having an annual electrocardiogram (ECG). This can be performed by a cardiologist.
Things to think about during a pregnancy
Women with the condition need careful management if planning a pregnancy: not only is there a risk of a baby being severely affected, but sometimes serious problems during pregnancy and delivery may also affect the mother.
Will I need specialist equipment?
Equipment for mobility and adaptations in the house can be very useful. Weak neck muscles may require a head-rest when driving.
Download your alert card
Alert cards are conveniently shaped to fit inside a wallet and outline key recommendations and precautions that a non-specialist clinician would need to know during a time of worsening health.
What is myotonic dystrophy?
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. People who have myotonic dystrophy have muscle wasting and weakness in their lower legs, hands, neck and face that get worse over time.
When does myotonic dystrophy develop?
Signs and symptoms of myotonic dystrophy usually develop when a person is in his or her twenties or thirties. The severity of myotonic dystrophy varies widely among those who have it, even among family members. The weakness and muscle wasting that occurs slowly progress to the point of disability.
Is myotonic dystrophy a type 1 or type 2?
Congenital myotonic dystrophy has only been seen in Type 1 myotonic dystrophy and not in Type 2. Myotonic dystrophy is the most common form of muscular dystrophy that begins in adulthood. It affects about 1 in 8,000 people worldwide. Type 1 myotonic dystrophy is the most common form in most countries.
What is autosomal dominant inheritance?
In autosomal dominant inheritance, having one copy of the altered (mutated) gene in each cell will cause the disorder. Usually a person who has myotonic dystrophy also has a one parent who has myotonic dystrophy. In families that have myotonic dystrophy, the altered gene is passed down from one generation to the next.
Can myotonic dystrophy be treated?
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.
How long does it take for muscle weakness to become severe?
The weakness and muscle wasting that occurs slowly progress to the point of disability. Usually, disability does not become severe until fifteen to twenty years after the symptoms appear. The progression of muscle weakness is slower and is less serious in people who are older when the muscle weakness is first noticed.
What is the best treatment for droopy eyelids?
Eyelid surgery to correct droopy eyelids. However, surgery is typically used as a last resort treatment as DM patients have an elevated risk of complications associated with the use of anesthesia. Please review the Anesthesia Guidelines for further information.
What is physiotherapy for?
Physiotherapy for muscle weakness, myotonia and contractors. Speech therapy for swallowing and pronunciation issues. Psychiatric therapy for behavioral and psychological issues (such as attention deficit, depression and anxiety disorders) Individualized support for learning disabilities and cognitive delays.
