Duchenne muscular dystrophy

Duchenne muscular dystrophy is an X-linked disease and is characterized by rapid progression of muscular dystrophy. This disease is caused by a mutation in the dystrophin gene located on chromosome X. That is why, as a rule, boys get sick. One third of cases are caused by a spontaneous mutation and do not depend on the parents genome. There are 4 main types of mutations: deletion (65% of cases), duplication (10%), nonsense mutation (10-15%) and other point mutations (10-15%). Establishing the exact type of mutation using genetic analysis is crucial for the selection of pathogenetic treatment.

According to the amount of dystrophin in the muscles, the following forms of pathology are distinguished:

Duchenne muscular dystrophy (no dystrophin synthesis),

Becker muscular dystrophy (approximately 5% of dystrophin is synthesized),

Other symptomatic forms of Becker’s muscular dystrophy (more than 5% of dystrophin is synthesized).

Symptoms that should alert parents and make them to consult a neurologist:

• detection of motor delay
• unusual gait
• use of auxiliary movements when getting up from a chair
• difficult stairs climbing
• increase of calf muscles
• walk high on the toes
• speech, mental development delay (30% of boys)

Early diagnosis is extremely important, as the disease progresses the muscle tissue is replaced by adipose tissue, and at the age of 14–15 years, adipocytes are detected instead of muscle cells. Timely treatment makes it possible to prolong the duration of functional activity of the child and delay the secondary skeletal changes development.

As of today, physicians have two drugs approved for the treatment of Duchenne muscular dystrophy, namely, ataluren and eteplirsen, which can only be used for certain types of mutations.

Duchenne myopathy treatment protocol also includes corticosteroids such as prednisolone and deflazacort to reduce muscle inflammation and stimulate repair.

Non-drug treatment:

• Moderate physical activity is recommended, swimming is allowed. Inaction (e.g. bed rest) may increase disease progression;
• Physiotherapy is important to maintain muscle strength, flexibility and joint function.
• The use of orthopedic devices can improve the patient’s ability to move and provide for their own needs.
• The use of orthoses that fix the shin during sleep allows delaying the onset of contractures (restriction of joint movements).
• As the disease progresses, it becomes necessary to use special respiratory mechanisms that allow to ensure normal process of respiration.

You can make an appointment for a consultation and treatment by calling the contact center:

+38 (044) 238-22-31.