Duchenne Muscular Dystrophy (DMD)

Prof. Dr. Öznur Yılmaz

H.U. Faculty of Heath Sciences Department of Physiotherapy and Rehabilitation

Duchenne Muscular Dystrophy (DMD) is the most commonly seen among all muscle diseases. The disease only affects the male children.

This disease is characterized with the absence of a basic protein which is otherwise required for a normal muscle functioning. The muscles are subjected to gradual weakening and replacement by the fatty tissue in the absence of this protein. 

The diagnosis is generally established between 2 and 5 years of age. Some children with DMD suffer from growth retardation (delay in walking, frequent falling, etc) in each developmental stage starting from the birth compared with healthy peers, while  some others grow in a similar manner to healthy peers. Among the symptoms of the disease are early tiredness and having trouble during standing up from the ground, walking uphill and walking up the stairs. Some families may seek medical help upon realizing stiffness and swelling in the calf muscles.

The weakness evident in the muscles around the hips and the shoulders deteriorates progressively in DMD, and the affected children managed to walk by protruding their bellies forward due to their weakened abdominal and back muscles. They become more prone to fall easily as the weakness in the leg muscles deteriorates, experience trouble during standing-up and stair-climbing activities, and lose their walking ability between 9 and 11 years of age, thereby starting to use wheelchairs. After this stage, the arm muscles also become subjected to gradual weakening and the children have hardness in using their arms.

Development of joint deformities and backbone curvature, namely scoliosis, represent the most frequently encountered problems following loss of walking ability.  

Arm muscles, leg muscles and truncal muscles, together with the respiratory muscles, weaken and, accordingly, the affected children suffer frequent lung infections. The heart muscles may also become affected. As the disease progresses, the patients are lost at around 20 years of age.

Currently, there is no definitive treatment for DMD. Physiotherapy applications, device applications and steroid therapy, however, are known to help the affected children sustain (approximately more then 2-3 years) their lives further, enjoying a more qualified life span.

Regular muscle exercise applications initiated in the very early phases of the disease prove quite effective in the maintenance of the muscle strength during the treatment of the children. Among the exercise applications, strengthening, stretching and respiratory exercises are the preferred ones in the treatment. In the protection of the joints, on the other hand, positioning, device applications and stretching exercises prove effective applications that should be initiated in the very early disease stages and continued.  Affected children wear some devices which encompass the ankles and made of hard plastic only at night. Following loss of the walking ability, on the other hand, light devices ensuring a standing-up posture are utilized to maintain that posture.

Likewise, steroid therapy (cortisone) possesses a proven efficacy in the maintenance of muscle strength. However, this therapy has a plenty of complication and should therefore be used with great caution. Among the most frequent complications is increase in appetite and weight gain. Dietary program recommended in the treatment should be strictly followed. Moreover, the patient should be followed up closely for any sign of other steroid-related side effects (for example, osteoporosis).

Swimming occupies a key place in the treatment. The child can perform some movements with ease in the water, which proves especially beneficial in young children whom exercises are quite troublesome to apply to. 

Any application directed to improve the independence of the children during the process of disease progression shall be of paramount benefit. Similarly, any factor that interferes with the mobility of the child should be abolished (for example, rug, doorstep, pointed stuffs at home or classroom located on the ground floor, etc).

Wheelchairs represent the most important mobility vehicles after the cessation of walking in the children. In this regard, a wheelchair which is accumulator-powered and proportional to the child’s bodily dimensions should be selected whenever possible. Likewise, using a western style toilet (used in the sitting position) and preferring to reside in building possessing an elevator or flats located on the ground floor are again likely to ease the daily life of both the children and the families. 

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