Duchenne muscular dystrophy is the most severe form of muscular dystrophy. It is caused by a mutation of a gene located on the X chromosome. Boys are affected; women may be carriers of the mutated gene.
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Symptoms and course Duchenne muscular dystrophy
Symptoms of Duchenne muscular dystrophy include:
- clumsy, waddling gait
- walking on tiptoe
- tendency to fall
- difficulty climbing stairs and getting up from a chair ("climbing over each other" - Gowers sign)
- excessive lumbar lordosis
- shoulder and pelvic girdle muscle weakness with atrophy
- hypertrophy of the calf muscles (real or pseudo)
- mental retardation (in about 30-50% of patients)
- impaired respiratory and cardiac muscle function
The course of the disease is progressive:
- around 3-4 years of age - parents notice the first symptoms,
- approx. 6 years of age - apparent improvement possible,
- approx. 8-9 years of age - contractures in the joints and curvature of the spine develop,
- approx. 13 years of age - immobilisation of the patient occurs. During the immobilisation period, severe respiratory failure and worsening of circulatory disorders may occur.
When to go to the doctor and treat Duchenne muscular dystrophy
Prednisone is used in the treatment of Duchenne muscular dystrophy - it prolongs the period of independent walking (up to 2-5 years), delays the onset of respiratory and circulatory disorders. Therapy should be started at 4-6 years of age (not later). In some cases, surgical treatment is used to remove contractures and correct scoliosis.
Treatment Duchenne muscular dystrophy
- a diet rich in protein and vitamins
- prevention and control of obesity
- prevention of contractures (passive stretching, long lying on the floor)
- prevention of spinal deformities (passive exercises of the spine, appropriate support of the spine while sitting
- avoiding immobilisation (even for a short time)
