What is Muscular dystrophy?
Muscular dystrophy, (abbreviated as MD), is a group of inherited disorders that leads to the disintegration of the body’s muscles, which gets replaced by fatty tissue. This results in the gradual weakening of the muscles, making movements difficult. While some muscular dystrophies develop among children, some others occur only among adults.
Muscular Dystrophy Types
The various types of the medical condition are:
- Duchenne dystrophy: The most severe type of medical condition, it usually develops among children between the ages of 3 and 6 years. It occurs when the muscles generate unusually low levels of a certain muscle protein called dystrophin. This, in turn, weakens the membranes around the muscles, causing muscle tears and, subsequently, the death of the muscle fibers. Boys are more likely to develop this condition than girls, although it can get passed on by women to their children.
- Becker-type muscular dystrophy: Similar to Duchenne MD, this type of condition also affects male children as a result of reduced production of dystrophin. What sets it apart from the previous type of the condition is that the symptoms of becker-type MD are milder and the condition is comparatively rare. Some individuals may develop a condition that is a combination of these two types of disease.
- Myotonic dystrophy: This is the most common variety of MD and can develop among men and women. The symptoms often start during adolescence.
- Limb-girdle muscular dystrophy: This form of MD develops in the muscles of the hips and shoulders. This genetic condition can be inherited by both men and women.
- Facioscapulohumeral muscular dystrophy: This form of MD has its origin in the facial and shoulder muscles, and affects both men and women. It can develop among several members of the same family. However, the symptoms may vary in intensity to the extent that individuals might be completely unaware of muscular abnormalities.
- Congenital muscular dystrophy: Some types of this MD can adversely affect mental faculties.
- Emery-Dreifuss dystrophy: This affects the muscles of the upper arm and lower leg, and often leads to heart dysfunction. Some forms of congenital muscular dystrophy are associated with decreased mental function.
Muscular Dystrophy Symptoms
The symptoms vary greatly among patients, depending on the muscular dystrophy type that they have been affected with. Let’s discuss the possible symptoms of the disease.
- Tripping or falling often
- Difficulty in climbing stairs
- Difficulty in jumping and hopping
- Walking on toes
- Weakness in the shoulders, hips, face, and/or arms
- Pain in the leg
- Loss of reflexes
- Thinning of bones
- Poor posture
- Inability to open or close the eyes
- Development of large calves due to fat accumulation
- Heart or lung diseases
- Scoliosis, or a condition where the spine becomes curved towards one side
Muscular Dystrophy Causes
The most common causes of the disease are:
Genetic disorder: There are certain genes that are responsible for producing proteins like dystrophin that protect muscle fibers. When one of these genes is definitive, it causes MD. Each type of medical condition is caused by a genetic mutation associated with that form of the disease. A majority of these mutations are inherited.
Inherited: Individuals with a family history of the medical condition are comparatively more prone to develop MD than those who do not have a genetic history of it.
Muscular Dystrophy Diagnosis
Physical examination: The physician is expected to undertake a thorough physical examination of the patient to analyze the symptoms. He/she is also likely to enquire about the genetic history of the patient. The symptoms of MD are similar to various other medical conditions. Hence, medical tests will have to be conducted to confirm the presence of MD.
Diagnostic tests: Below are the probable tests that the physician may recommend:
- Muscle biopsy: This test analyses muscles under a microscope to check for abnormalities.
- Electrocardiogram (ECG): This medical test assists in evaluating heart conditions involved with heart muscles and irregular heartbeats.
- Electromyogram: This test can detect the presence of disintegration of muscle tissue.
- Blood tests: Blood tests related to measuring the levels of muscle enzymes can be prescribed.
- Genetic blood test: Such tests precisely evaluate the inherited abnormalities in the genetic material.
Muscular Dystrophy Treatment
Muscular dystrophy treatment focuses on impeding the worsening of the medical condition, although there is often no way to prevent further aggravations of the disease. It is a life-long treatment because it has no cure. Muscular dystrophy treatment differs between patients because it depends on the age, body part affected and various other perimeters.
The probable muscular dystrophy treatments are:
- Physical therapy: This may be recommended to strengthen the weak muscles and control the speed of muscular breakdown.
- Medications: Drugs like deflazacort and corticosteroids may be prescribed as a temporary measure to prevent aggravations in muscle breakdown. This is especially applicable for boys who have been diagnosed with Duchenne MD.
- Psychological and dietary therapy: Patients with MD can be prescribed nutritional therapy as per their ages. This helps in preventing obesity that may aggravate the medical condition by exerting stress on their already weak muscles. Obesity is often on the rise among patients with this medical condition as a result of restrictions in movements.
- Splints: Special devices like splints and braces may have to be inserted to ensure the necessary support to the disintegrating muscles.
- Surgery: In the case of scoliosis and other related conditions, surgery may be recommended.
- Pacemaker: For patients whose heart muscles have been affected by the disease, the functioning of their hearts and heartbeats is evaluated at frequent intervals. In such cases, a pacemaker may be installed to ensure normal rhythms of the heart.
Dr. Roopa K G | Consultant – Neurologist | Sahyadri Narayana Multispecialty Hospital Shimoga