Muscular Dystrophy

An Overview

Muscular dystrophy is a group of diseases that make muscles weaker and less flexible over time. It is caused by a problem in the genes that control how the body keeps muscles healthy. For some people, the disease starts early in childhood. Others don’t have any symptoms until they are teenagers or middle-aged adults.

There are many kinds of muscular dystrophy. Symptoms of the most common variety begin in childhood, mostly in boys. Other types don’t surface until adulthood. There’s no cure for muscular dystrophy. But medications and therapy can help manage symptoms and slow the course of the disease.

How muscular dystrophy affects you or your child depends on the kind. Most people’s condition will get worse over time, and some people may lose the ability to walk, talk, or care for themselves.

Types of muscular dystrophy

There are more than 30 different types of muscular dystrophy. The main types are:
• Duchenne muscular dystrophy
• Becker muscular dystrophy
• congenital muscular dystrophy
• limb-girdle muscular dystrophy
• facioscapulohumeral muscular dystrophy
• myotonic dystrophy
• oculopharyngeal muscular dystrophy
• Emery-Dreifuss muscular dystrophy.

Symptoms of muscular dystrophy

The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy.
Duchenne type muscular dystrophy
This is the most common form. Although girls can be carriers and mildly affected, it’s much more common in boys.
Signs and symptoms, which typically appear in early childhood, might include:
• Frequent falls
• Difficulty rising from a lying or sitting position
• Trouble running and jumping
• Waddling gait
• Inability to walk
• A shortening of muscles and tendons, further limiting movement
• Breathing problems can become so severe that assisted breathing is necessary
• Curvature of the spine can be caused if muscles are not strong enough to support its structure
• The muscles of the heart can be weakened, leading to cardiac
• Walking on the toes
• Large calf muscles
• Muscle pain and stiffness
• Learning disabilities
• Delayed growth

Causes of Muscular dystrophy

Muscular dystrophy can run in families, or you can be the first one in your family to have it. The condition is caused by problems in your genes.
Genes contain the information your cells need to make proteins that control all of the different functions in the body. When a gene has a problem, your cells can make the wrong protein, the wrong amount of it, or a damaged protein.

Dystrophin is part of an incredibly complex group of proteins that allow muscles to work correctly. The protein helps anchor various components within muscle cells together and links them all to the sarcolemma – the outer membrane.

If dystrophin is absent or deformed, this process does not work correctly, and disruptions occur in the outer membrane. This weakens the muscles and can also actively damage the muscle cells themselves. Certain genes are involved in making proteins that protect muscle fibers. Muscular dystrophy occurs when one of these genes is defective.


Each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Most of these mutations are inherited.
• Enzyme tests. Damaged muscles release enzymes, such as creatine kinase (CK), into your blood. In a person who hasn’t had a traumatic injury, high blood levels of CK suggest a muscle disease.
• Genetic testing. Blood samples can be examined for mutations in some of the genes that cause types of muscular dystrophy.
• Muscle biopsy. A small piece of muscle can be removed through an incision or with a hollow needle. Analysis of the tissue sample can distinguish muscular dystrophies from other muscle diseases.
• Heart-monitoring tests (electrocardiography and echocardiogram). These tests are used to check heart function, especially in people diagnosed with myotonic muscular dystrophy.
• Mobility aids: Canes, wheelchairs, and walkers can help the person stay mobile.
• Braces: These keep muscles and tendons stretched and help slow their shortening. They also give added support to the user when moving.


Although there’s no cure for any form of muscular dystrophy, treatment for some forms of the disease can help extend the time a person with the disease can remain mobile and help with heart and lung muscle strength. Trials of new therapies are ongoing.

People with muscular dystrophy should be monitored throughout their lives. Their care team should include a neurologist with expertise in neuromuscular diseases, a physical medicine and rehabilitation specialist, and physical and occupational therapists. 

For some types of muscular dystrophy, medication can help manage the symptoms of the condition. For example, males with Duchenne muscular dystrophy are usually prescribed corticosteroids, which can delay the need for a wheelchair by several years on average. However, the risk of side effects needs to be considered.
Corticosteroids, such as prednisone and deflazacort (Emflaza), which can help muscle strength and delay the progression of certain types of muscular dystrophy. But prolonged use of these types of drugs can cause weight gain and weakened bones, increasing fracture risk.
Therapy. Several types of therapy and assistive devices can improve the quality and sometimes the length of life in people who have muscular dystrophy. Examples include:
Range-of-motion and stretching exercises. Muscular dystrophy can restrict the flexibility and mobility of joints. Limbs often draw inward and become fixed in that position. Range-of-motion exercises can help to keep joints as flexible as possible.
Exercise. Low-impact aerobic exercise, such as walking and swimming, can help maintain strength, mobility and general health. Some types of strengthening exercises also might be helpful. But it’s important to talk to your doctor first because some types of exercise might be harmful.
Surgery. Surgery might be needed to correct contractures or a spinal curvature that could eventually make breathing more difficult. Heart function may be improved with a pacemaker or other cardiac device.             Preventing respiratory infections. Respiratory infections can become a problem in muscular dystrophy. So, it’s important to be vaccinated for pneumonia and to keep up to date with influenza shots. Try to avoid contact with children or adults who have an obvious infection.

Hope this Symptoms and cure article will be helpful to all. Do not forget to share your valuable suggestions if any.


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