Which are the symptoms of Becker muscular dystrophy?

Symptoms of Becker Muscular Dystrophy

Becker muscular dystrophy (BMD) is a genetic disorder that primarily affects the muscles. It is a milder form of muscular dystrophy compared to Duchenne muscular dystrophy (DMD), but it still leads to progressive muscle weakness and can significantly impact an individual's quality of life. BMD is caused by mutations in the dystrophin gene, which is responsible for producing a protein called dystrophin that plays a crucial role in maintaining the structure and function of muscle fibers.

1. Muscle Weakness and Wasting

One of the hallmark symptoms of Becker muscular dystrophy is progressive muscle weakness and wasting. This typically begins in childhood or adolescence, but the age of onset and rate of progression can vary widely among individuals. Initially, the weakness may be mild and affect specific muscle groups, such as the hips, thighs, and shoulders. Over time, however, it tends to spread to other muscle groups, including the arms, legs, and trunk. The weakness may lead to difficulties with walking, running, climbing stairs, and performing other physical activities.

2. Gait Abnormalities

Individuals with Becker muscular dystrophy often exhibit gait abnormalities. They may walk with a waddling or lordotic gait, where the lower back is excessively curved inward. This abnormal gait pattern is a result of muscle weakness and can contribute to difficulties in maintaining balance and stability.

3. Muscle Cramps and Pain

Many individuals with BMD experience muscle cramps and pain. These can occur during physical activity or even at rest. Muscle cramps are involuntary contractions of muscles that can be quite painful and may last for varying durations. The pain associated with BMD can be localized to specific muscle groups or more generalized throughout the body.

4. Fatigue

Chronic fatigue is a common symptom of Becker muscular dystrophy. Individuals may feel excessively tired and lack energy, even after minimal physical exertion. This fatigue can significantly impact daily activities and may require individuals to take frequent breaks or rest periods.

5. Cardiac Involvement

Becker muscular dystrophy can also affect the heart muscle. Cardiac involvement is a significant concern in BMD, as it can lead to various complications. The dystrophin protein, which is deficient in individuals with BMD, is also present in cardiac muscle cells. As a result, the heart muscle may become weakened and less efficient in pumping blood, leading to cardiac abnormalities such as cardiomyopathy and arrhythmias. Regular cardiac monitoring is essential for individuals with BMD to detect and manage any potential cardiac complications.

6. Respiratory Difficulties

Progressive weakness in the muscles involved in breathing can cause respiratory difficulties in individuals with Becker muscular dystrophy. As the disease progresses, the respiratory muscles may become weaker, leading to reduced lung function and impaired breathing. This can result in shortness of breath, especially during physical exertion or while lying flat. In severe cases, individuals may require respiratory support, such as non-invasive ventilation or even a ventilator, to assist with breathing.

7. Skeletal Deformities

Over time, individuals with BMD may develop skeletal deformities. These can include scoliosis (abnormal curvature of the spine), lordosis (excessive inward curvature of the lower back), and contractures (abnormal shortening of muscles or tendons, leading to joint stiffness and limited range of motion). These skeletal abnormalities can further contribute to difficulties with mobility and posture.

It is important to note that the symptoms and their severity can vary among individuals with Becker muscular dystrophy. Some individuals may experience a milder course of the disease with slower progression, while others may have more pronounced symptoms and faster deterioration. Regular medical care, including physical therapy, respiratory support, and cardiac monitoring, is crucial in managing the symptoms and improving the quality of life for individuals with BMD.