Muscular Dystrophy – Symptoms, Causes Types and treatment

Muscular dystrophy (MD) is a genetic muscle disease that is characterized by weakness of the voluntary muscles of the human body. It belongs to the group of inherited diseases that cause muscular weakness and loss.  In this disorder the muscle fibers are abnormally prone to injury. As a result of this phenomenon these muscles gradually become weak.

Some of these dystrophies manifest themselves in the infancy stage of and individual, whereas there are some which appear in the middle or later stage of an individual’s life.  A person with this disorder loses the ability to do things like walking, sitting upright, breathing easily, and moving his or her arms and hands. This muscular weakness can lead to other health concerns. Certain forms of MD have myocardial effects and also affect other involuntary muscles and other organs. The ones effecting the heart can cause cardiomyopathy and arrhythmias.

Genetic studies have proved that this disorder is a result of incorrect or missing genetic information that prevents the body from making the proteins needed to build and maintain healthy muscles. In this case it is the muscle protein dystrophin which is deficient.

There is currently no available cure for MD but Geneticists are on the lookout for both, ways in which genes specific to these disorders can either be prevented from being transferred to the next generation and methods which could probably cure this condition.

Symptoms

The Signs and symptoms of MD may vary according to their type. The general symptoms which may occur are as follows

Ø  Muscle weakness that slowly gets worse

       Frequent falls, stumbling

       Delayed development of muscle motor skills

       Problems walking (delayed walking)

       Difficulty using one or more muscle groups

       struggle to get up from a sitting

       Drooling

Ø  Hypotonia

These types of muscular dystrophies are due to a genetic defect of the protein dystrophin.

Duchenne muscular dystrophy

This is the most common and the most severe form of MD. The deficiency of this protein leads to muscle break down and makes the individuals weaker. It occurs mostly in young boys and is the most common form of MD that affects children. Girls can carry the gene that causes the disease, but they usually have no symptoms. The symptoms usually begin to surface around age 5. Most kids with this form need to use a wheelchair by age 12. Over time, their muscles weaken in the shoulders, back, arms, and legs.

Signs and symptoms of Duchenne’s MD may include:

       Frequent falls

       Large calf muscles

       Difficulty getting up from a lying or sitting position

       Weakness in lower leg muscles, resulting in difficulty running and jumping

       Waddling gait

       Mild mental retardation, in some cases

Becker’s muscular dystrophy

is similar to Duchenne, but it is less common and progresses more slowly usually over decades. This form of MD affects older boys and young men. It too is caused by insufficient production of dystrophin. Those affected by Becker’s MD usually are able to walk through their teens, and often well into adulthood.

Myotonic dystrophy

       muscle weakness and wasting (where the muscles shrink over time).

       cataracts.

        heart problems.

       Fainting or dizziness.

       Weakening of muscles of hollow internal organs.

       Mild diabetes.

       Weakening of muscles involved in breathing and swallowing.

Facioscapulohumeral muscular dystrophy

This type of dystrophy can affect individuals of both sexes and the symptoms are visible during their teens. Also known as Landouzy-Dejerine dystrophy, this disorder is slow and has the following symptoms in the listed order.

        First the Muscle weakness first develops in the face.

        Then the shoulder and back muscles gradually become weak.

        Gradually the legs and pelvic muscles also may lose strength.

Other major types of muscular dystrophy :

§  Limb-girdle muscular dystrophy

§  Congenital muscular dystrophy

§  Oculopharyngeal muscular dystrophy

§  Distal muscular dystrophy

§  Emery-Dreifuss muscular dystrophy

Treatment

There are no known cures for the various muscular dystrophies. The main aim of the various available treatments is to control the symptoms of MDs.

Physical therapy may help patients maintain muscle strength and function with the help of  regular range-of-motion exercises to keep your joints as flexible as possible. Orthopedic appliances such as braces and wheelchairs can improve mobility and self-care abilities by assisting movement. In some cases, surgery on the spine like the spinal fusion surgery may also be required to correct spinal curvature problems. Other surgeries are performed on the legs to help improve function.