Becker Muscular Dystrophy (BMD)

What is a Becker Muscular Dystrophy (BMD)?

→ Becker muscular dystrophy is an inherited disorder that involves slowly worsening muscle weakness of the legs and pelvis.

Symptoms of Becker Muscular Dystrophy

→ Symptoms usually begin in childhood. The average age at diagnosis is 11 years but there is a wide age range. The clinical severity varies.

Early symptoms
→ Delayed walking (sometimes).
→ Muscle cramps on exercise.
→ Most BMD children are not ‘athletic’ and may struggle with school sports.

Later symptoms
→ Muscle weakness
→ Affects the proximal muscles of the limbs mainly.
→ May begin in teenage years or 20s, causing difficulty in climbing stairs, fast walking, and lifting heavy objects.
→ BMD patients can walk independently until the age of 16 or later (cf DMD, where patients cannot walk beyond the age of 12). Walking ability is lost (usually at the age of 40-60) but sometimes earlier, around the age of 20-30.

Signs:
→ Wasting of the proximal muscles; hypertrophy of others, particularly the calf muscles.

• Other presentations
→ Myoglobinuria.
→ Anaesthetic complications – a dangerous, malignant hyperthermia-like reaction with some anesthetic agents.
→ Cardiomyopathy may be the first presentation if muscle weakness is subclinical.
→ There is a higher incidence of learning difficulties, behavioral problems, and autistic spectrum disorders, compared with the general population.

Risk Factor:

→ The disease almost always affects males, though it can occur in females. You’re at a higher risk if you have relatives with the condition.

Diagnosis:

→ doctor will examine you thoroughly, looking for deformed muscles and bones, abnormal heart rhythms, and muscle loss. a doctor may order a number of tests, including:

→ Blood tests to measure the levels of enzymes released from damaged muscles
→ Electrical stimulation of nerves to measure your muscle function
→ A muscle tissue sample to check for signs of muscular dystrophy
→ Gene analysis to look for an abnormal dystrophin gene
→ Tests of your heart and lung function
→ X-rays of your spine

Treatment of Becker Muscular Dystrophy:

→ There is no known cure for Becker muscular dystrophy yet. Treatment is aimed at control of symptoms to maximize the quality of life which can be measured by specific questionnaires. Activity is encouraged. Inactivity (such as bed rest) or sitting down for too long can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength. Orthopedic appliances such as braces and wheelchairs may improve mobility and self-care.

→ Immunosuppressant steroids have been known to help slow the progression of Becker muscular dystrophy. The drug prednisone contributes to an increased production of the protein utrophin which closely resembles dystrophin, the protein that is defective in BMD.
→ The cardiac problems that occur with EDMD and myotonic muscular dystrophy may require a pacemaker.
The investigational drug Debio-025 is a known inhibitor of the protein cyclophilin D, which regulates the swelling of mitochondria in response to cellular injury. Researchers decided to test the drug in mice engineered to carry MD after earlier laboratory tests showed deleting a gene that encodes cycolphilin D reduced swelling and reversed or prevented the disease’s muscle-damaging characteristics. According to a review by Bushby. if a primary protein is not functioning properly then maybe another protein could take its place by augmenting it. Upregulation of compensatory proteins has been done in models of transgenic mice.

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