Muscular dystrophy is part of a group of genetic disorders that cause the progressive degeneration of muscle fibers, the affected muscles becoming more and more hypotonic (weaker). Most of the times people with muscular dystrophy get to use a wheelchair in time.

There are several forms of muscular dystrophy, the most common being Duchenne muscular dystrophy – this generally affects young boys, but certain forms can also manifest themselves in adults. Other forms of muscular dystrophy manifest only in adulthood.

Most forms of the disease tend to be multi-system/multi-organ disorders, which affect, in addition to the musculoskeletal system, several parts of the body, such as the gastrointestinal tract, cardiovascular system, endocrine system, nervous system, eyes, skin, as well as other organs. The symptoms worsen progressively, potentially causing severe limitations on gait and movement in time.

Muscular dystrophy is caused by a mutation in the X chromosome gene and is more common in boys. Hundreds of different genes are involved in the production of proteins that protect muscle fibers from possible damage. The disease occurs when one of these genes is defective, respectively the gene responsible for producing the protein called dystrophin.

People who have a family history of the condition have an increased risk of developing the disease or transmitting it to their children.

Duchenne muscular dystrophy, the most common form of muscular dystrophy, manifests through:

✓ progressive loss of muscle tone
✓ difficulty in maintaining balance
✓ difficulty in walking (people with muscular dystrophy have an unusual gait)
✓ shortening of muscles and tendons, which limits the movement
✓ frequent falls
✓ onset of scoliosis, if the paravertebral muscles are not toned enough to support the spine
✓ joint stiffness
✓ difficulty in breathing
✓ heart arrhythmias (irregular heartbeat)
✓ muscle spasms
✓ difficulty in getting up from supine position
✓ presence of the Gower's sign (it is a typical sign, found in patients with muscular dystrophy and is determined by the weakness of proximal muscles, such as abdominal muscles, back muscles, thigh muscles. Thus, a small child will have difficulty getting up, practically he/she cannot stand up from squat position and will use his hands to get up).

Corticosteroids help improve muscle strength and slow the progression of certain forms of the disease, but prolonged use can promote weight gain and have a negative effect on bones

Muscular dystrophy can cause limitation of joint flexibility and mobility. Thus, one of the main objectives of the recovery program is to keep the joints as flexible as possible through stretching exercises. Other objectives of the recovery program are:

➢ maintaining muscle tone, through active exercises and resistive exercises (with small weights, with elastic bands, etc.)
➢ limiting pain
➢ maintaining independence in terms of movement

Walking and swimming can also slow the progression of the disease and contribute to increased joint flexibility.

Orthotics and other orthopedic means (canes, walking frames, wheelchairs) provide support to the hypotonic muscles and help maintain the flexibility of the muscles and tendons, slowing the progression of the contraction, as well as maintaining mobility and movement.

As the respiratory muscles become weaker, an oxygen device could help breathing. In severe cases of muscular dystrophy, a ventilator may be needed to improve respiratory function.

✓ Respiratory infections could become a problem as the disease progresses. Thus, in order to prevent pneumonia as well as for seasonal flu, vaccination is essential.
✓ The medical recovery program, including both exercises to maintain muscle function and respiratory gymnastics, should start as early as possible and is constantly practiced to prevent the progression of the disease.