Progressive weakness and loss of muscle mass are caused by Muscular dystrophy.
Mutations in abnormal genes can affect the production of proteins needed to build healthy muscle.
There are many types of muscular dystrophy. Symptoms of the most common variety begin in childhood, usually in boys. Other types only surface in adulthood.
There is no cure for muscular dystrophy. But medications and therapy can help manage symptoms and slow the progression of the disease.
Symptoms
1. Duchenne-type muscular dystrophy
This is the most common form. Although girls can be carriers and mildly affected, it is much more common in boys than girls.
Symptoms, which usually appear in early childhood, may include
- Frequent falls
- Difficulty getting up from a lying or sitting position
- Difficulty running and jumping
- Waddling gait
- walk on toes
- Muscle pain and stiffness
- Learning disabilities
- stunted growth
2. Becker muscular dystrophy
The signs and symptoms of Becker muscular dystrophy are similar to those of Duchenne muscular dystrophy, but they progress more slowly. Symptoms usually begin in adolescence, but may appear in your twenties or later.
3. Other types of muscular dystrophy
Some types of muscular dystrophy are defined by where symptoms begin.
- Myotonic. This is characterized by an inability to relax the muscles after contractions. The face and neck muscles are usually the first to be impacted.
- Facio-scapulo-humeral muscle . Muscle weakness usually begins in the face, hip and shoulders. Onset usually occurs in adolescence, but can begin in childhood or up to age 50.
- Congenital. This type affects both boys and girls and is apparent at birth or before age 2. Some forms progress slowly and cause mild disability, while others progress rapidly and cause severe impairment.
- Girdle myopathies. The hip and shoulder muscles are usually affected first. People with this type of muscular dystrophy may have difficulty lifting the front part of the foot and therefore may stumble frequently. Onset usually begins in childhood or adolescence.
Causes of Muscular Dystrophy
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 specific to the type of disease. Most of these mutations are inherited.
Risk factors
Muscular dystrophy occurs in both sexes and at all ages and affects all races. However, the most common variety, Duchenne, usually occurs in young boys. People with a family history are at higher risk of developing the disease or passing it on to their children.
Complications
Complications associated with progressive muscle weakness include:
- Difficulty walking.
- Difficulty using the arms.
- Shortening of the muscles or tendons around the joints (contractures).
- Breathing problems.
- Curved spine (scoliosis).
- Heart problems.
- Swallowing problems.
Diagnostic
The doctor will likely begin by taking the patient’s medical history and doing a physical exam.
After that, he might recommend:
- Enzymatic tests (creatine kinase).
- A genetic test.
- A muscle biopsy.
- echocardiogram
- Pulmonary function tests.
- Electromyography.
Treatment
Although there is no cure for any form of muscular dystrophy, treating some forms of the disease can help extend the time a person with the disease can stay mobile and strengthen heart and lung muscles.
People with muscular dystrophy should be monitored throughout their lives. The care team should include a neurologist specializing in neuromuscular diseases, a specialist in physical medicine and rehabilitation, physiotherapists and occupational therapists.
Some people may also need a pulmonologist (pulmonologist), cardiologist, endocrinologist, and orthopedic surgeon.
1. Medicines
The doctor may recommend:
- Corticosteroids. Prolonged use of these types of medications, however, can cause weight gain and weaken bones, increasing the risk of fracture.
- Medicines such as eteplirsen or golodirsen.
- Heart medications, such as angiotensin -converting enzyme (ACE) inhibitors or beta-blockers, if muscular dystrophy is damaging the heart.
2. Therapy
Several types of exercises and devices can improve the quality and sometimes the length of life for people with muscular dystrophy:
- Range of motion and stretching exercises.
- Low-impact aerobic exercise, such as walking and swimming, can help maintain strength, mobility, and overall health.
- Braces.
- Canes, walkers and wheelchairs.
- Device to combat sleep apnea.
3. Surgery
Surgery may be needed to correct any contractures or curvature of the spine that could possibly make it harder to breathe.
4. Prevent respiratory infections
Respiratory infections can lead to complications. It is therefore important to be vaccinated against pneumonia and to keep up to date with flu shots.