Muscular Dystrophy

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

Reason

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.

Risk Factors

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.

Complications

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.

Diagnostic Procedures

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.

Medications

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.

Therapy

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.

Surgery

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.

Prevention

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.

Useful Advice

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.
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Questions & Answers
Q:
What is the best way to treat permanent back and neck pain and stiffness?
A:
by
Age2B

Here are some tips:

Neck Pain Tips: Sleep with a cervical pillow

Orthopedic or cervical pillows are made with special contours to support the space beneath the neck and head. They are also more concave for the head and provide more support to the neck.

Neck Pain Tips: Sleep on your back

The best position to lie to sleep is on your back. If you sleep on your stomach or on your side, make sure your pillow is not too thick. It should raise your head no more than 4 to 6 inches. This will keep your neck and head from turning to either side.

Neck Pain Tips: Position your computer screen at eye level

While you are working at a computer, sit comfortably in your chair with your computer in front of you. Close your eyes and then open them. When you open your eyes, you should see the middle of the computer screen. If your gaze is not in the middle of the screen, adjust the height of the screen using items like books.

To keep your head from gradually drifting forward, take frequent breaks to stretch. Getting up to walk around at least once every half-hour is one of the best neck pain tips.

Neck Pain Tips: Use a telephone headset

Never hold a phone between your shoulder and your ear. Use a headset or other hands-free system to talk on the phone and avoid abusing your neck and spine.

Neck Pain Tips: Exercise your neck muscles

One of the best neck pain tips is using the chin tuck. You can do this often throughout the day. In addition to helping strengthen the muscles that hold the head in alignment over the shoulders, it also helps strengthen the scalene and sub-occipital muscles.

Read more tips here: Neck Pain Tips: Sleeping, Posture, Exercising, Hydration & Prevention

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Age2B
4 answers
Q:
What is the best treatment for neck pain and shoulder Pain?
A:
by
Age2B

One of the best treatment for neck pain and shoulder pain is exercises:

Neck Pain Exercises: Neck Extension

  1. To begin this neck pain exercise, sit up straight in a chair with your feet flat on the floor.
  2. Looking straight ahead, tuck your chin slightly (starting position)
  3. Place the palm of your hand on the back of your neck, at the base of your head
  4. Apply slight forward pressure with your hand, while resisting the forward motion of your neck and head
  5. Hold for a count of 5 and return to the starting position and relax
  6. Repeat the neck pain exercises 5-10 times

Neck pain exercises: Side bend

  1. Sit up straight in a chair with your feet flat on the floor.
  2. Looking straight ahead, tuck your chin slightly (starting position)
  3. Place your left hand, palm down, on the left side of your head (around your ear)
  4. Slightly push your head to the right side with your hand, while resisting the sideways motion of your neck and head
  5. Hold for a count of 5 and return to the starting position and relax.
  6. Repeat 5-10 times
  7. Repeat the neck pain exercises with the other side.

Neck pain exercises: Neck flexion

  1. Sit up straight in a chair with your feet flat on the floor.
  2. Looking straight ahead, tuck your chin slightly (starting position)
  3. Place the tips of your fingers on your forehead
  4. Slightly push your head backward with your fingers, while resisting the backward motion of your neck and head
  5. Hold for a count of 5 and return to the starting position and relax.
  6. Repeat the neck pain exercises 5-10 times

More exercises here: Neck Pain Exercises

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Age2B
4 answers
Q:
How do I reduce the shoulder and neck pain?
A:
by
Age2B

Here are some tips:

Neck Pain Tips: Sleep with a cervical pillow

Orthopedic or cervical pillows are made with special contours to support the space beneath the neck and head. They are also more concave for the head and provide more support to the neck.

Neck Pain Tips: Sleep on your back

The best position to lie to sleep is on your back. If you sleep on your stomach or on your side, make sure your pillow is not too thick. It should raise your head no more than 4 to 6 inches. This will keep your neck and head from turning to either side.

Neck Pain Tips: Position your computer screen at eye level

While you are working at a computer, sit comfortably in your chair with your computer in front of you. Close your eyes and then open them. When you open your eyes, you should see the middle of the computer screen. If your gaze is not in the middle of the screen, adjust the height of the screen using items like books.

To keep your head from gradually drifting forward, take frequent breaks to stretch. Getting up to walk around at least once every half-hour is one of the best neck pain tips.

Neck Pain Tips: Carry weight evenly

Many people make the mistake of carrying a heavy briefcase or their purse on their shoulder or on one side of their body. Doing this causes strain in the muscles and leads to pain.

Remove non-essentials from your briefcase or purse. Consider using a backpack to evenly distribute the weight across your shoulders. If you choose to carry a purse or backpack, keep your shoulders level while carrying it.

Neck Pain Tips: Maintain a proper posture

The most common posture contributing to neck pain is the “head-and-shoulders-forward” posture. In this position, the neck slopes forward, putting the head in front of the shoulders.

In this position, the head pulls the upper back forward also in a slumped position. This places a strain on the entire spinal column.

More tips here: Neck Pain Tips: Sleeping, Posture, Exercising, Hydration & Prevention

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Age2B
4 answers