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Muscular Dystrophy Fast Facts

The term muscular dystrophy refers to a group of diseases that affect he body’s muscles.

The most common form of the disease is called Duchenne muscular dystrophy (DMD). Its symptoms usually first occur in childhood.

DMD is much more common in boys than in girls. About 1 in every 7,250 boys between the ages of 5 and 24 are afflicted with the disease. Only about 1 in 50 million girls develops symptoms of DMD.

Another type of the disease, Becker muscular dystrophy, typically shows milder symptoms that tend to occur later, often in the patient’s teens or 20s. DMD is three times more common than Becker MD.

What is Muscular Dystrophy?

Muscular dystrophy (MD) is a collective term that refers to a group of more than 30 diseases. The common characteristic of all the diseases is that they cause muscle weakness and a progressive loss of muscle tissue. There is no known cure for any of the diseases.

Some of the differences between the different types of MD lie in the muscles affected and the stage of life at which their symptoms first appear.

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy. It almost exclusively affects boys, but girls may develop a milder form of the disease. Symptoms usually appear first in early childhood (generally at age 2 or 3) and get progressively worse.

Symptoms of DMD include:

  • Difficulty walking, running or jumping
  • Awkward gait (waddling or toe-walking)
  • Trouble moving from a lying or sitting position
  • Muscle stiffness or pain
  • Unusually large calf muscles
  • Learning disabilities

Becker Muscular Dystrophy

Symptoms of Becker MD are similar to those of DMD but may be milder. Symptoms of Becker MD usually first appear later than those of DMD, with onset occurring in the patient’s teens or 20s.

Myotonic Muscular Dystrophy (Steinert’s Disease)

This form of the disease is characterized by muscles that fail to relax after they contract. Muscles of the face and neck are usually the first to be affected, and the symptoms typically first appear in adulthood.

Congenital Muscular Dystrophy

These forms of the disease have symptoms that are apparent at birth or during infancy. The severity of the symptoms and the speed at which they progress vary.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

What Causes Muscular Dystrophy?

Muscular dystrophy occurs when the body is unable to produce the kinds of proteins needed to build and protect muscle cells. The production of these proteins is controlled by genes, and each type of MD is characterized by a gene abnormality that causes abnormal production of a particular protein.

In the case of Duchenne muscular dystrophy, the affected protein is called dystrophin. In the 1980s, scientists discovered the protein and the gene abnormality that affects it. When the genetic mutation interferes with the production of dystrophin, the lack of the protein causes muscle cells to be especially susceptible to damage.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Is Muscular Dystrophy Hereditary?

Most types of muscular dystrophy run in families, and the genetic trigger for the disease is passed from parent to child. Sometimes, though, the genetic abnormality that causes the disease isn’t present at birth and occurs sometime later in life. This makes it possible for someone who doesn’t have a family history of MD to develop the disease.

Duchenne muscular dystrophy is called an X-linked inherited disorder because the gene responsible for the disease lies on the X chromosome. Women’s cells contain two X chromosomes, and men’s cells contain one X and one Y chromosome.Everyone inherits one X chromosome from their mother and either an X or Y chromosome from their father, so the DMD genetic mutation could be inherited from either parent. But because girls have two X chromosomes, there is a higher probability that they will inherit a healthy X chromosome, making it unlikely that they will develop the disease. Boys who inherit the DMD mutation, however, don’t have a healthy X chromosome to counteract the mutation and are much more likely to develop DMD.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Muscular Dystrophy Detected?

The first symptoms of DMD often begin to appear around age 2 or 3, but some signs may be present earlier. The earliest signs may be difficult to spot, however, and the average age of diagnosis of DMD is 4.

Be alert for the developmental warning signs of DMD in your child. Signs include:

  • Difficulty standing from a sitting or lying position
  • Delayed walking (later than 15 months)
  • Weakness or stiffness in the neck
  • Walking with a waddling, toe-walking, or legs-apart gait
  • Difficulty running or jumping
  • Speech delays

In other types of MD, symptoms may surface later. Causes for concern include progressive muscle weakness, frequent falls, or muscle stiffness.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Muscular Dystrophy Diagnosed?

If a doctor is presented with symptoms that look like those of muscular dystrophy, they will begin the diagnostic process by conducting a physical exam and gathering medical history. If it appears that a muscle disease is likely, several different tests can help determine if there is a muscle problem and which disease is the cause.

Possible diagnostic tests include:

  • Creatine kinase (CK) test. Creatine kinase (CK) is a type of protein called an enzyme. CK in the blood is normal, but higher levels of the enzyme are created when muscles are damaged. A CK level when there is no apparent muscle injury can show the presence of a muscle disease like MD.
  • Electromyography. This test uses an electricity-sensing needle probe to measure muscle function. The test can detect muscle abnormalities that could be a sign of MD.
  • Muscle biopsy. This test involves removing and examining a small amount of muscle tissue. A biopsy may be able to detect muscle abnormalities caused by MD.
  • Genetic testing. These blood tests look for specific genetic abnormalities that are responsible for different types of MD.

PLEASE CONSULT A PHYSICIAN FOR MORE INFORMATION.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Muscular Dystrophy Treated?

There is no cure for muscular dystrophy, but treatments may be able to slow the progression of symptoms. With treatment, symptoms can often be managed to keep the patient mobile as long as possible and to help prevent severe, life-threatening complications.

Medications

Medications are typically used to slow the progression of MD and to treat potential complications. Drugs commonly used include:

  • Corticosteroids. The steroid prednisone may be able to keep muscles stronger and slow the progressive degeneration of muscle tissue. Regular use of steroids, however, carries the risk of side effects such as weight gain and brittle bones.
  • Immunosuppressants. Medications that limit the action of the body’s immune system may also help to delay muscle degeneration.
  • Eteplirsen (Exondys 51) is a new drug that may improve muscle weakness in some cases of DMD by targeting specific gene mutations. The drug has been approved as a DMD treatment by the FDA, but evaluation of its effectiveness and safety is ongoing.

Therapies

Programs of therapy directed at specific problems associated with MD may slow down the disease’s progression and delay the worst of the complications.

Commonly used therapies include:

  • Physical therapy
  • Respiratory therapy
  • Speech therapy
  • Occupational therapy

Sometimes surgery may be required to address problems, such as abnormal skeletal development, caused by MD. Myotonic MD can affect the heart, and a pacemaker may be required to keep the heart functioning properly.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How Does Muscular Dystrophy Progress?

Some cases of MD progress slowly, and symptoms may be relatively mild. In severe cases, though, progressive muscle degeneration can lead to complications that are debilitating or life-threatening.

Potential complications of MD include:

  • Limited mobility. Muscle weakness can make it hard to get around, and some people with MD eventually lose the ability to walk altogether.
  • Skeletal problems. The spine, in particular, is vulnerable to abnormal development when weak muscles are unable to support it.
  • Respiratory problems. The muscles responsible for controlling breathing can be affected by MD, making it difficult for patients to breathe normally on their own. Some patients may require the assistance of a mechanical ventilator.
  • Swallowing problems. Muscles that control the swallowing reflex can be affected. When this happens, maintaining proper nutrition may be difficult, and sometimes a feeding tube is necessary.
  • Heart problems. The muscular function of the heart may be impacted by MD.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Muscular Dystrophy Prevented?

There is no known way to prevent the onset of muscular dystrophy in someone who is born with a genetic mutation responsible for the disease. The cause of spontaneous disease-producing mutations after birth is also unknown, so there’s no way to prevent those cases from occurring.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Muscular Dystrophy Caregiver Tips

Studies have shown that caring for someone with muscular dystrophy can have a significant negative impact on the caregiver’s life. Caregivers are at risk for depression, sleep problems, stress, anxiety, relationship problems, and low self-esteem. Caregivers are also likely to have difficulty performing well at work, and many caregivers quit working entirely in order to care for their loved ones.Because of these risks, it’s vital that caregivers take advantage of support systems to keep themselves healthy. The Muscular Dystrophy Association maintains a collection of resources for caregivers that include educational resources, guides, and links to caregiver networks and support groups.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Muscular Dystrophy Brain Science

The most obvious effects of muscular dystrophy occur in the muscles, but it’s not uncommon for MD sufferers to also have cognitive or mental health problems, too. This suggests that MD, at least sometimes, affects the brain, too. Researchers are trying to understand how abnormalities in protein production that weakens muscles might also have a negative impact on brain development or function.

  • The genetic mutation that causes myotonic MD produces a toxic chemical that damages muscle tissue. But symptoms of myotonic MD also often include memory, cognitive, and behavioral problems, leading scientists to suspect that the toxic chemical may also damage the brain. Studies have shown that the chemical is present in the brains of myotonic MD patients, and animal studies have shown that the chemical could produce neurological symptoms.
  • People with Duchenne MD (DMD) often suffer from cognitive limitations and psychological disorders such as attention-deficit/hyperactivity disorder (ADHD) or obsessive-compulsive disorder (OCD). Dystrophin, the protein that’s impacted by DMD, is also present in the brain, but scientists are not yet sure what it does there. Even though the protein’s role in the brain is still unknown, one study has linked dystrophin deficit with changes in brain development and a higher risk of cognitive problems.

These areas of research could be the first steps in understanding the neurological impact of MD, and a broader understanding could lead to more effective treatments.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Muscular Dystrophy Research

Scientists are working on several research projects to expand on what is known about Muscular Dystrophy.  The research will improve knowledge about the factors that increase the risk for Muscular Dystrophy, as well as the causes, and best treatments, and will aid people living with Muscular Dystrophy and their caregivers.

We are currently gathering the information required to support projects such as Wearable Technology to Assess Gait Function in SMA and DMD, Molecular Analysis of Patients With Neuromuscular Diseaseand Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

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