What is Muscular Dystrophy?
What is Muscular Dystrophy? It is a group of inherited diseases that lead to the progressive weakening of the muscles and wasting away of muscle tissue. In this disorder, genes that are abnormal interfere with the formation of muscle tissue by interrupting the production of a specific essential protein.
There are over 30 different types of Muscular Dystrophy diseases. The most frequently occurring types of the disease occur in boys and the symptoms appear in childhood. The symptoms of other types of Muscular Dystrophy disease don't appear until a person is an adult.
Muscular Dystrophy can affect a person's ability to walk, breathe or swallow. Therapy and medications can help slow the progression of the disease and manage the symptoms, but there is no cure exists for Muscular Dystrophy disease.
There are various types of Muscular Dystrophy disease, these include:
- Duchenne Muscular Dystrophy
- Myotonic Dystrophy
- Facioscapulohumeral Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy
- Oculopharyngeal Dystrophy
- Distal Muscular Dystrophy
- Mitochondrial Myopathies
- Limb-girdle Muscular Dystrophies
- Becker's Muscular Dystrophy
Specific genes in our body are responsible for producing proteins that serve to protect the fibers of our muscles. When one of these specific genes is abnormal, Muscular Dystrophy disease occurs.
Each certain type of Muscular Dystrophy is caused by a mutation that is specific to that form of the disease. Many of these gene mutations are inherited from a person's parents. Some can happen spontaneously and for no apparent reason in a mother's egg, or in the forming embryo. That form of Muscular Dystrophy is then passed on to following generations.
Every Muscular Dystrophy disease is acquired through inheritance. Each type of Muscular Dystrophy is related to a particular hereditary mutation. The nature of this hereditary mutation and which chromosome it is situated on decide the attributes of the Muscular Dystrophy and the way the sickness is passed starting with one generation onto the next.
People of all ages, sexes, and races can develop Muscular Dystrophy. Duchenne Muscular Dystrophy is the most common type of the disease. This occurs the most often in male children. Individuals who have a family member with Muscular Dystrophy are at increased risk of developing the condition and of passing it on to their own children.
A family history of Muscular Dystrophy is a risk factor, yet the condition may go down without a known family history. A man can be a silent bearer of the condition. This implies a relative can convey a duplicate of the condition, yet it doesn't cause Muscular Dystrophy in that individual. Every now and then, the condition can go down for eras before influencing a child.
Males are more probable to have Muscular Dystrophy than females. Males and females who are born to a mother who has the condition each have a shot of acquiring Muscular Dystrophy However, young women who acquire the gene will be asymptomatic bearers, and young men will show manifestations.
The complications of muscle diseases that are progressive, such as some forms of Muscular Dystrophy include:
- Inability to walk: Sometimes, the muscle weakness of Muscular Dystrophy leads to the inability to use the legs to walk.
- Shortening of tendons and muscles: When these tissues shorten, contractures can occur, which further limits mobility.
- Difficulty breathing: As muscle weakness progresses, the muscles used for breathing can be affected.
- Scoliosis: This is also known as the curvature of the spine. The spine may curve abnormally due to weakened muscles.
- Heart problems: The heart muscle is sometimes weakened by Muscular Dystrophy.
- Problems swallowing: The muscles used in swallowing may be weakened by Muscular Dystrophy causing aspiration Pneumonia or other nutritional problems.
Muscular Dystrophy - Symptoms
Muscle weakness that is progressive is the major Muscular Dystrophy symptoms. Other more specific symptoms can start at various ages and in different groups of muscles. The causes of Muscular Dystrophy depend on the specific type of Muscular Dystrophy that is present.
Duchenne muscular dystrophy
About 50% of people affected by the causes of Muscular Dystrophy have Duchenne. Females can be mildly affected by this type of the disease and can carry the disease, passing it on in their genes, but males are typically affected by the causes of Muscular Dystrophy.
Approximately one-third of the males who develop Duchenne Muscular Dystrophy do not have a relative with the disease. This could be because the gene that the causes of Muscular Dystrophy are prone to abnormal and sudden change, which is known as Spontaneous Mutation.
Most of the time, a child with Duchenne Muscular Dystrophy will begin to develop Muscular Dystrophy symptoms at the age of 2 or 3 years old. Symptoms typically include:
- Difficulty jumping and running
- Falling down frequently
- Trouble getting up from a sitting or lying position
- Walking up on the toes
- A waddling gait
- Large muscles in the calf of the leg
- Learning delays
- Muscle pain and stiffness
Becker Muscular Dystrophy
Becker Muscular Dystrophy is typically a milder form of Muscular Dystrophy and it progresses more slowly. It also occurs later in life, typically in the teenage years but sometimes not until the mid-twenties or sometimes even later. The Becker Muscular Dystrophy symptoms are very similar to Duchenne.
Other types of muscular dystrophy
Many of the other causes of Muscular Dystrophy are defined by a characteristic feature of the disease or by the location where the Muscular Dystrophy symptoms first begin to appear in the body. Examples of these causes of Muscular Dystrophy are:
- Myotonic: This is sometimes called Steinert's disease. Muscular Dystrophy symptoms include the inability to relax the muscles following muscle contractions. The muscles of the neck and face are typically the first muscle groups to be affected. Myotonic Muscular Dystrophy is the most common form of Muscular Dystrophy that has its onset in adulthood.
- Facioscapulohumeral (FSHD): This form of Muscular Dystrophy is characterized by muscle weakness that begins in the shoulders and the face. With the loss of muscle mass, the shoulder blades might protrude to look like wings when the arms are raised. The onset of FSHD typically is in the teen years but may occur in mid-adulthood or in childhood.
- Congenital: This Muscular Dystrophy affects both girls and boys and is evident at birth or prior to the age of 2. Some forms progress very slowly and they produce only mild disability. Other congenital causes of Muscular Dystrophy progress quickly and cause profound impairment.
- Limb-girdle: The shoulder and hip muscles are typically the first muscles to be affected in this form of Muscular Dystrophy. Onset is usually in the teenage or childhood years. Problems lifting the front of the foot are common and so the person may experience frequent tripping.
If Muscular Dystrophy is suspected, the physician usually reviews the patient's medical history and performs a physical examination.
The following studies and tests are often used in diagnosing the causes of muscular dystrophy:
- Enzyme testing: When muscles are injured, they release enzymes into your blood, like creatine kinase (CK). If a person who has not been involved in a traumatic injury, high levels of CK in the blood can indicate a disease of the muscles, like Muscular Dystrophy.
- Electromyography: In this study, muscles are tested by inserting an electrode needle into a muscle. The electrical activity of the muscle is then measured when the muscles tighten and relaxes. The patterns of change in electrical activity of the muscles are used to diagnose some muscle disorders such as Muscular Dystrophy.
- Genetic testing: Gene mutations that lead to some types of Muscular Dystrophy can be detected in blood samples.
- Muscle biopsy: To perform this study, a tiny piece of muscle tissue is taken through a needle or a small incision. Looking at the tissue with a microscope can help doctors tell the difference if the other muscle disorder is causing symptoms.
- Tests that study heart function (electrocardiography and echocardiogram): These studies check how the heart is working. They are used most often when doctors suspect Myotonic Muscular Dystrophy.
- Lung function studies: These tests evaluate the work of the lungs.
Treatment for Muscular Dystrophy
There is no cure for any type of Muscular Dystrophy. Treatment for Muscular Dystrophy such as medication, surgery, and physical therapy can help to prevent problems in the spine and joints and allow people who have the disease to stay active for as long as possible.
Human trials of gene treatment for Muscular Dystrophy with the dystrophin gene are in the near future. For example, researchers are inquiring about approaches to embed a working dystrophin gene into the muscles of young men with Duchenne and Becker Muscular Dystrophy.
Analysts are researching the capability of certain muscle-building medications to back off or invert the movement of Muscular Dystrophy. Different trials are investigating the impacts of the dietary supplements creatine and glutamine on muscle energy generation and storage.
For a person who has Muscular Dystrophy, the following treatment for Muscular Dystrophy medications might be recommended:
- Corticosteroids: Steroids, such as prednisone, may help slow the progression of some types of Muscular Dystrophy and may increase the muscle strength. Steroids have the risk of many side effects, especially with prolonged use. Side effects include weakened bones and weight gain, which increases the risk of broken bones. For these reasons, long-term use of steroids is not always recommended as a treatment for Muscular Dystrophy.
- Heart medications: If Muscular Dystrophy causes damage to the heart muscle, medications like beta-blockers or ACE inhibitors may be prescribed as a treatment for Muscular Dystrophy.
Assistive devices and different types of therapy are often used to help improve the quality of life for people with Muscular Dystrophy. Examples of treatment for Muscular Dystrophy via therapy include:
- Stretching exercise and range-of-motion: Stretching and moving the joints through their full range-of-motion can help keep a person with Muscular Dystrophy mobile and flexible and serve as a treatment for Muscular Dystrophy. As the muscles weaken, they can pull the arms and legs inward and contracted. Stretching the muscles may prevent the joints from becoming fixed and frozen.
- Exercise: Swimming, walking, and other forms of low-impact aerobic exercise can help maintain mobility, muscle strength and overall well-being. Some types of exercise might not be helpful, so be sure to talk to your doctor before starting any type of aerobic exercise.
- Braces: Braces can provide help with movement by providing support to muscles that have weakened. They can also keep the tendons and muscles straightened and stretched, preventing the progression of contractures in Muscular Dystrophy.
- Mobility aids: For people with Muscular Dystrophy or other problems with mobility, walkers, wheelchairs, and canes often help maintain independence and mobility.
- Breathing assistance: Some people who have Muscular Dystrophy develop weakness in the muscles used for breathing. A machine to help deliver oxygen to lungs is sometimes used at night for conditions like sleep apnea. In cases of severe Muscular Dystrophy, a ventilator may be needed.
In some cases, people with Muscular Dystrophy develop abnormal curvatures in their spine that make it difficult for the lungs to expand. Treatment for Muscular Dystrophy via surgery can be performed to correct this problem and make breathing easier.
Carriers are regularly sisters and moms of those with Muscular Dystrophy and, for the most part, don't show any symptoms. However, they may display little indications that give insights of it. They can pass the illness on to their children; their children will get the disease at a fraction of the time, allowing the females to become carriers. For Duchenne and Becker Muscular Dystrophy, protein and DNA tests can recognize carriers, and DNA tests can give a pre-birth conclusion. Tests for carriers of different types of Muscular Dystrophy are currently being worked on.
In the later stages of Muscular Dystrophy, as muscles used for breathing become weaker, respiratory problems may put a person with the disease at higher risk for infection. It's important to stay current with immunizations for influenza and be vaccinated for Pneumonia.
Changes in the diet have not been shown to have an effect on the progression of Muscular Dystrophy. Because impaired mobility can lead to constipation, dehydration, and obesity, it's essential for people with Muscular Dystrophy to consume a healthy diet. Foods that are high in fiber and protein may help and limit the intake of empty calories is beneficial.
If you have Muscular Dystrophy, you may be feeling overwhelmed. The following treatment for Muscular Dystrophy may be helpful:
- Find someone you can talk to: It may be helpful to talk about your feelings with a family member, your doctor or a friend. Consider joining a support group.
- Learn to talk about the disease: If your child has been diagnosed with Muscular Dystrophy, ask your physician for help in talking about the disease with your child and ways to answer the questions that come up.