Becker Muscular Dystrophy (BMD)

Becker Muscular Dystrophy (BMD)

BMD is a genetic, X-linked, degenerative disease of skeletal muscles and the cardiac muscle. They are similar but milder than Duchenne Muscular Dystrophy, except for cardiac function that is affected accordingly.

Symptoms

They appear at advanced childhood or adolescence, and there is a slower progression than DMD. There is progressive muscle weakness in the thighs, pelvis, hips and shoulders and the calves are large. There is a characteristic gait at the tips of the toes and stretching of the abdomen. Muscular contractures are present in some cases. There is cardiomyopathy, but the nerves and their functions are not damaged. In advanced situations, there may be a respiratory problem and elimination of secretions due to cough failure. Perhaps there are learning difficulties, especially in memory, attention, speech and emotional development.

 

Management

Thanks to medical developments in the last decades, patients have better prognosis. So far, medical approaches are supportive rather than therapeutic, although extensive research is in progress on the field of treatment. In particular:

  1. Anesthesia
    Many patients may have complications in certain types of anesthesia, which should be treated appropriately by the medical team that monitors them, to avoid their use or to deal directly with their complications.
  2. Assistive devices – trolleys – seats
    Ankle or knee splints are often used at night to maintain the right position and stretch of the Achilles tendon. Progressively, many people use wheelchairs that are used to drive and make them as independent as possible when it is needed.
  3. Cardiac care
    Cardiac function should be assessed at least once a year from the age of 10 years. Carriers have increased risk of cardiomyopathy and should also have full cardiac assessment from adolescence or after adulthood or in case of existing symptoms even earlier, and their condition should be reassessed every five years from the age of 25-30 years.
  4. Contractures
    Upon the onset there are contractures in the muscles, which can be serious, causing stiffness and difficulty in movement. With proper body posture and exercises – physiotherapy – (Standards of Care), their consequences can be minimized. Supporting devices are of great help. There is also the possibility of interventions to deal with severe muscle contractures.
  5. Nutrition
    No specific nutritional advice is required as long as there is no evidence of any nutritional ratio in specific ingredients necessary for these individuals (Standards of Care). It should consist of many liquids and vegetable fibers with consumption of fruits and vegetables. For boys and men using trolleys or taking corticosteroids, there should be extra caution to avoid gain any body weight, that will be burden to the muscles and cardiac function.
  6. Physiotherapy
    Contributes to the proper functioning of muscles and the heart. It should not be exhaustive, because of undesirable results. It should include swimming and hydrotherapy with appropriate exercises, preventing potential muscle injuries.
  7. Learning difficulties
    They may occur in children with BMD. Appropriate education and psychological support should be provided by a neuropsychologist who will apply appropriate exercises and techniques.
  8. Occupational therapy
    It focuses on specific topics such as professional rehabilitation, recreation, driving, clothing and computer use.
  9. Respiratory care
    Over time, breathing difficulty may occur, especially during sleep, due to respiratory muscle weakness. It can be treated with special chest and abdominal manipulations to facilitate excretion and the use of special cough and respiratory devices if there is difficulty in coughing and breathing. (Standards of Care)
  10. Medication
    Medications for heart function (Standards of Care) are taken and in some serious cases corticosteroids are recommended.

 

Diagnosis

  1. Getting individual and family history,
  2. Clinical examination for muscle weakness assessment,
  3. Genetic testing,
  4. Biochemical assay of enzyme CK,
  5. Muscle biopsy.

 

Information about clinical trials conducted globally: https://www.centerwatch.com/clinical-trials/listings/condition/350/muscular-dystrophy/ and https://clinicaltrials.gov/ct2/home

 

References

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