Becker muscular dystrophy: Insights into genetics, symptoms, and management

Thomas Lowrie

doi:10.35841/aajnnr-9.1.184

Short Communication - Journal of Neurology and Neurorehabilitation Research (2024) Volume 9, Issue 1

Becker muscular dystrophy: Insights into genetics, symptoms, and management

Thomas Lowrie ^*

Department of Biostatistics, Kermanshah University of Medical Sciences, Iran

*Corresponding Author:: Thomas Lowrie
Department of Biostatistics, Kermanshah University of Medical Sciences, Iran
E-mail: tlowrie@ku.irn.com

Received: 26-Dec-2023, Manuscript No. JNNR-24-137397; Editor assigned: 28-Dec-2023, PreQC No. JNNR-24-137397 (PQ); Reviewed: 11-Jan-2024, QC No. JNNR-24-137397; Revised: 16-Jan-2024, Manuscript No. JNNR-24-137397(R); Published: 23-Jan-2024, DOI: 10.35841/aajnnr-9.1.184

Citation: : Lowrie T. Becker muscular dystrophy: Insights into genetics, symptoms, and management. J Neurol Neurorehab Res.2024;9(1):184

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Introduction

Becker Muscular Dystrophy (BMD) is a genetic disorder characterized by progressive muscle weakness and degeneration. It is named after the German doctor Peter Emil Becker, who first described the condition in the 1950s. BMD is part of a group of disorders known as dystrophinopathies, which are caused by mutations in the DMD gene that encodes the protein dystrophin. Although similar to Duchenne Muscular Dystrophy (DMD), BMD generally has a milder and slower progression. Understanding the pathophysiology, symptoms, diagnosis, causes, treatment, and living with BMD provides valuable insights into this condition [1].

Becker Muscular Dystrophy is caused by mutations in the DMD gene located on the X chromosome. The DMD gene provides instructions for making dystrophin, a protein that helps maintain the integrity and function of muscle cells. In BMD, the mutations lead to the production of an abnormal form of dystrophin that is either partially functional or produced in reduced amounts. This contrasts with DMD, where dystrophin is almost completely absent. The presence of some functional dystrophin in BMD accounts for its milder symptoms and slower progression compared to DMD [2].

The onset and severity of symptoms in BMD can vary widely, but they typically appear later and progress more slowly than in DMD. Common symptoms include: Muscle Weakness: This usually begins in the hips and pelvic area and later affects the shoulders and limbs. The weakness is generally symmetrical, affecting both sides of the body [3].

Muscle Cramps and Fatigue: Individuals may experience muscle cramps, stiffness, and fatigue, particularly after physical activity. Difficulty Walking: Waddling gait and frequent falls may occur due to weakness in the hip and thigh muscles [4].

Enlarged Calves (Pseudohypertrophy): Similar to DMD, individuals with BMD often have enlarged calf muscles due to muscle tissue being replaced by fat and connective tissue. Heart Problems: Cardiomyopathy, a disease of the heart muscle, can develop, leading to heart failure and arrhythmias. Breathing Problems: Weakness of the respiratory muscles can cause breathing difficulties, particularly in the later stages of the disease [5].

Diagnosing BMD involves a combination of clinical evaluation, family history, and specific diagnostic tests. Key diagnostic procedures include:Clinical Examination: Assessment of muscle strength, reflexes, and other neurological functions. Creatine Kinase (CK) Test: Elevated levels of CK, an enzyme released from damaged muscles, can indicate muscle disease. Genetic Testing: Identifying mutations in the DMD gene confirms the diagnosis of BMD [6].

Muscle Biopsy: Examination of a small sample of muscle tissue under a microscope can reveal changes characteristic of BMD and the presence of dystrophin. Electromyography (EMG): Measures the electrical activity of muscles and can help differentiate BMD from other neuromuscular disorders. Cardiac Evaluation: Electrocardiogram (ECG) and echocardiogram to assess heart function and detect cardiomyopathy [7].

There is currently no cure for BMD, and treatment focuses on managing symptoms, maintaining mobility, and improving quality of life. A multidisciplinary approach involving neurologists, cardiologists, physical therapists, and other specialists is crucial. Key treatment strategies include [8].

Corticosteroids: Drugs like prednisone can help slow the progression of muscle weakness and improve strength. Heart Medications: ACE inhibitors, beta-blockers, and other medications to manage cardiomyopathy and other heart issues. Pain Management: Analgesics and other medications to manage muscle cramps and pain [

Procedures to correct skeletal deformities, such as scoliosis surgery, if necessary. Living with Becker Muscular Dystrophy. Living with BMD involves managing physical symptoms, addressing emotional and psychological needs, and planning for the future. Key aspects of living with BMD include: Regular Medical Care: Ongoing monitoring by a multidisciplinary team to manage symptoms, adjust treatments, and monitor heart and respiratory function. Nutrition: A balanced diet to support overall health and manage weight, as obesity can exacerbate symptoms [10].

Conclusion

Becker Muscular Dystrophy is a genetic disorder that causes progressive muscle weakness and degeneration. While there is no cure, advances in medical care have improved the management and prognosis of the disease. A comprehensive approach to treatment, including medications, physical therapy, and supportive care, can help individuals with BMD maintain mobility and quality of life. Ongoing research offers hope for more effective treatments and a better understanding of this challenging condition. Through continued efforts in scientific research, patient care, and advocacy, the outlook for those living with BMD continues to improve.