Muscular Dystrophy

All muscular dystrophies are inherited. Each type of muscular dystrophy is associated with a distinct genetic mutation. The nature of the gene mutation and which chromosome it is located on determine the characteristics of the muscular dystrophy and the way the disease is passed from one generation to the next.

The gene responsible for Duchenne and Becker's muscular dystrophies normally produces a protein called dystrophin, which helps muscle cells keep their normal shape and function. The faulty gene that causes muscular dystrophies either does not produce enough dystrophin or produces dystrophin that doesn't work properly. This gene is located on the X chromosome.

Women have two X chromosomes, but men have only one X chromosome (men also have a Y chromosome, which does not have a copy of the dystrophin gene). Girls don't usually get the disease because the healthy gene on one X chromosome can produce enough normal dystrophin to compensate for the defective gene on the other X chromosome. They often show no symptoms of muscular dystrophy. Boys who inherit the defective gene are not so lucky since they do not have another copy of the good gene and are not able to make enough dystrophin to keep their muscles healthy.

A woman who has the abnormal gene is called a carrier. Each of her children (boy or girl) has a 50% chance of getting the gene from her. If the child is a boy and inherits the defective gene, he will develop the muscle disease. If it is a girl, she will be a carrier who can then pass the gene on to her own children.

Any woman in an affected family can be tested before deciding to get pregnant to find out if she is a carrier. If she is not a carrier, she cannot pass the disease on to any of her children. A fetus can also be tested for the disease during pregnancy.

The symptoms and age of onset depend on the type of muscular dystrophy. Symptoms of muscular dystrophy often include:

• problems with coordination and mobility with frequent falls
• muscle weakness
• joint stiffness

Duchenne muscular dystrophy symptoms appear early, usually between the ages of 3 to 5. The condition progresses quickly, affecting the legs and hips first, and leads to the need for a wheelchair by the age of 12 - 13. Symptoms include those listed above as well as fatigue, problems with the bones in the back and chest, and intellectual disability. People with this condition often develop large calves due to large fatty deposits that accumulate alongside muscle. They may eventually also have trouble breathing and develop pneumonia.

Becker's muscular dystrophy is an inherited muscular dystrophy which almost exclusively affects men. Worldwide, 1 in every 35,000 males is affected. It has a later onset than Duchenne Muscular Dystrophy, usually starting around age 12, and is much less severe and progresses more slowly. Symptoms include those listed above, plus heart disease, problems with the curvature of the spine, fatigue, problems with thinking, and breathing difficulties.

Symptoms of facioscapulohumeral muscular dystrophy (also called Landouzy-Dejerine muscular dystrophy) include weak facial and shoulder muscles and difficulty with lifting arms, whistling, and closing eyes. It affects mainly the upper body and can also cause hearing loss, speech problems, and changes in heart rhythm. Symptoms often start around ages 10 to 26, but may also start at a later stage. This disorder affects 1 in 20,000 people and is the third most common muscular dystrophy in the world.

Limb-girdle muscular dystrophies cause weakness and wasting in the arm and leg muscles. There are over 20 different sub-types of this muscular dystrophy, which affects 0.5 to 4 per 100,000 people worldwide. Symptoms usually start to appear in childhood or early adulthood. Muscle weakness starts in the pelvic area and moves to the shoulders and other body parts.

Emery-Dreifuss muscular dystrophy causes wasting of the muscles in the lower legs as well as the upper arms. It may also affect other areas such as the shoulders, chest, and face. Usually, the muscle contractures (shortening of muscle) appear before the muscle weakness appears.

Oculopharyngeal muscular dystrophy is an adult-onset dystrophy (i.e., appears after the age of 45) that primarily affects those of French Canadian and Jewish descent. In Quebec, 1 in 1000 people has this type of muscular dystrophy. Symptoms include difficulty swallowing (dysphagia), tongue weakness, weakness in the proximal muscles, difficulty looking up or double-vision (diplopia), and closing or drooping eyelids (ptosis). It also causes tongue and facial muscle weakness.

Distal muscular dystrophy usually occurs after age 35 and causes weakness in the ankles, making it difficult to walk.

Mitochondrial myopathies are caused by defects in the genes of the mitochondria, which are specialized units found inside cells that create the energy needed for cells to work. For this type of muscular dystrophy, some parents will pass the mutation to the child while others may not. Symptoms include those listed above, plus heart problems, seizures, gastrointestinal tract disorders, skeletal muscle issues, and problems with vision and hearing.

Myotonic muscular dystrophy is the most common form of adult-onset muscular dystrophy and is genetically passed from parent to child. It affects men and women equally. In general, symptoms do not appear until after the age of 20 with the exception of myotonia congenita, a congenital form of the disease (present at birth). However, in some people, such as those with proximal myotonic myopathy (another form of muscular dystrophy), symptoms may not appear until 30 to 60 years of age. This type of muscular dystrophy can also affect the heart (arrhythmias), eyes (cataracts), lungs, digestive tract, and brain function and can be associated with diabetes.

If a person has weak muscles that become weaker over time, they may have muscular dystrophy. High levels of a chemical called creatine kinase (CPK) found in the blood may also help diagnose muscular dystrophy. High levels of creatine kinase don't give a definite diagnosis, since many other muscle diseases can also cause this.

Testing for very low levels of dystrophin in the muscles can also be used to diagnose Duchenne muscular dystrophy. For other types of muscular dystrophy, specific blood tests can be done to help your doctor determine which type of muscular dystrophy you have.

A test called an electromyogram (EMG) involves passing tiny electrical shocks through the muscles. It can be performed to test whether the muscles and nerves are working properly.

A muscle biopsy may also be used to help with diagnosis. In this procedure, a doctor surgically removes a small piece or sample of the muscle and looks at it under the microscope. A muscle with muscular dystrophy has many dead and abnormally large muscle fibres. As the disease progresses, the dead muscle is replaced with fat and other kinds of tissue. In some forms of muscular dystrophy, like Duchenne Muscular Dystrophy (DMD), RNA or DNA can be extracted from the muscle biopsy. This allows specialized labs to check for the common mutations in genes that cause muscular dystrophy.

There is no cure for muscular dystrophy, but exercise and physical therapy can keep the muscles from tightening up around the joints. Assistive devices such as braces and wheelchairs can also help people with muscular dystrophy. People with Duchenne muscular dystrophy can take a corticosteroid medication (like prednisone) to improve muscle strength and function as well as reduce the progression of scoliosis (a curvature of the spine). Every effort should be made to prevent viral infections that could progress to pneumonia. People with this disease should receive the pneumococcal vaccine to prevent pneumonia. In addition, it is recommended that people over 6 years of age receive their annual influenza vaccine.

Some forms of muscular dystrophy can lead to complications of the heart, lungs, and other organs. Because of this, children with muscular dystrophies should have regular check-ups to identify any problems over time.

Couples that have a history of muscular dystrophy in their families may want to go for genetic counselling. The counsellor will help determine the risk of having a child with the disease and provide guidance on how to proceed.

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