muscular dystrophy (MD) is more than a medical condition – it’s a journey that reshapes lives. Imagine trying to climb stairs, run, or even stand and find that your muscles are not cooperating. This is an everyday reality for people with MD. Dr Anirudh More, consultant neurologist, Jupiter Hospital, Thane, explains that MD is a group of genetic disorders that cause progressive muscle weakness and degeneration. It’s not just about muscles; It’s about life-changing challenges.

MD results from genetic mutations that disrupt the production of proteins essential for muscle health, such as dystrophin. This vital protein maintains muscle structure and function, but its absence or deficiency causes trouble. While some forms of MD, such as duchenne muscular dystrophyPrimarily affecting boys due to dystrophin gene mutations, others, such as limb-girdle and myotonic MD, have different patterns and effects.

The journey often begins with subtle signs: frequent falls, clumsiness, or difficulty climbing stairs. “What starts as minor muscle weakness quickly becomes widespread,” says Dr. Morey. “Over time, healthy muscle tissue is replaced by fat and fibrous tissue, which rapidly impairs mobility.” It becomes difficult. MD doesn’t stop there – it can involve vital organs like the heart and lungs. Cardiomyopathy, arrhythmias, and respiratory problems are common complications. As the disease progresses to the throat and facial muscles, some patients experience difficulty swallowing or slurred speech.

Types of muscular dystrophy

Different types of MDs go their own ways:

– Duchenne MD often begins in childhood, causing rapid decline in muscle mass and loss of mobility during adolescence.

-Baker MD progresses slowly, sometimes retaining mobility into adulthood.

– Myotonic MD adds muscle stiffness and cardiovascular problems, while facioscapulohumeral MD targets the face, shoulders and upper arms.

Dr. Mor explains that the management of MD requires a holistic approach. “Although we don’t have a cure, there’s a lot we can do to improve quality of life.”

Treatment Options for Muscular Dystrophy

Treatment includes medications such as corticosteroids to slow muscle degeneration and beta-blockers for cardiovascular complications. Physical therapy helps delay muscle contractions and maintain mobility, while occupational therapy and assistive devices such as braces and wheelchairs promote independence.

In severe cases, surgical intervention, such as tendon release or spinal surgery, is necessary. “Paying attention to nutrition is also important,” says Dr. Morey. Patients should avoid being underweight or overweight, as both can increase complications.

Living with MD extends beyond the physical. The emotional impact on patients and their families can be enormous. Anxiety, depression, and the financial burden of care add layers of complexity. Counseling and support groups provide a sense of community, providing a lifeline for those affected.

Research offers hope. Advances in gene therapy, CRISPR-based gene editing, and stem cell therapy are paving the way for potential cures. Dr. More explains that early diagnosis through genetic testing is important. “The earlier we identify MD, the more options we have to intervene effectively.”

While MD is undoubtedly challenging, advances in care and emerging therapies are changing the outlook for patients. Advocacy and awareness are driving progress, ensuring a brighter future for those suffering from this condition. Every step forward, whether in treatment or understanding, brings us closer to improving lives affected by MD.

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