Treatment of DMD in Tashkent
Comprehensive rehabilitation for children with Duchenne muscular dystrophy. The program aims to maximize preservation of motor functions, prevent contractures and deformities, maintain respiratory function, and support the child's independence in daily life.
What is DMD?
Duchenne muscular dystrophy (DMD) is a hereditary neuromuscular disease caused by a mutation in the dystrophin gene on the X chromosome. It predominantly affects boys. It is characterized by progressive muscle weakness starting in the lower extremities. Rehabilitation plays a key role in maintaining functional capabilities, slowing contracture progression, and preserving quality of life at every stage of the disease.
Causes of DMD
DMD is caused by a mutation in the dystrophin gene on the X chromosome. It is inherited in an X-linked recessive pattern — boys are affected, mothers are carriers. In 30% of cases, it is a spontaneous mutation. The dystrophin protein is essential for muscle cell stability during contraction.
DMD Manifestations
Delayed walking onset, frequent falls, waddling gait, difficulty climbing stairs, Gowers' sign (using hands to stand up from the floor), enlarged calf muscles (pseudohypertrophy), progressive weakness, loss of ambulation typically by age 10-12.
Diagnostics
Blood test for creatine phosphokinase (CPK — sharply elevated), genetic testing (MLPA, dystrophin gene sequencing), muscle biopsy if necessary, functional assessment using the North Star Ambulatory Assessment, spirometry, ECG and echocardiography for cardiac monitoring.
Prognosis
The prognosis depends on the disease stage and comprehensiveness of care. Modern pharmacotherapy (corticosteroids, ataluren) slows progression. Regular rehabilitation helps maintain mobility longer, prevent complications, and support the child's maximum independence.
How we treat
Diagnostics
Comprehensive examination and patient assessment by an international team of specialists
Treatment plan
Development of an individual rehabilitation program considering diagnosis specifics
Therapy
Intensive course of procedures: physical therapy, massage, physiotherapy, acupuncture and other methods
Results
Progress evaluation, home recommendations and maintenance therapy plan
Procedures for treating DMD
Questions about treatment of DMD
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