Blog Details

Muscular Dystrophy

Understanding the condition

Muscular dystrophy (MD) refers to a group of inherited disorders that cause progressive weakness and degeneration of the muscles that control movement. Each type of muscular dystrophy varies in severity, age of onset and pattern of muscle involvement. But they all have one feature in common - a gradual loss of muscle strength over time. It is important to understand the condition properly to ensure seek timely care, manage symptoms effectively and prepare for long-term support.

What causes Muscular Dystrophy?

Muscular dystrophy is primarily caused by genetic mutations that interfere with the production of proteins needed to maintain healthy muscle fibres. For instance, in Duchenne Muscular Dystrophy (DMD), one of the most common and severe forms, the body fails to produce dystrophin - a protein essential for muscle protection and repair. These mutations are often inherited, though some may occur spontaneously.

Types of Muscular Dystrophy

There are more than 30 types of muscular dystrophy. Some of the more common ones are:

• Duchenne Muscular Dystrophy (DMD): Typically diagnosed in early childhood, affecting boys more commonly. It progresses rapidly and may impact the heart and lungs.
• Becker Muscular Dystrophy (BMD): Similar to DMD but milder, with symptoms appearing later and progressing more slowly.
• Myotonic Dystrophy: Characterized by an inability to relax muscles after contraction. It can affect adults and children.
• Limb-Girdle Muscular Dystrophy: Causes weakness in the hips and shoulders and affects both males and females.
• Facioscapulohumeral Dystrophy (FSHD): Weakens facial, shoulder and upper arm muscles, often starting in adolescence.

Each type requires specific management based on the muscles involved and how quickly the condition progresses.

Symptoms of the disease

Symptoms usually include:

• Difficulty walking, frequent falls or trouble running
• Progressive muscle weakness
• Enlarged calf muscles (particularly in DMD)
• Trouble climbing stairs or rising from the floor
• Delayed motor milestones in children
• In advanced stages: respiratory weakness and cardiac involvement

Diagnosis and Treatment

A proper diagnosis of this condition requires a combination of physical examination, genetic testing, blood tests for muscle enzymes, electromyography (EMG) and muscle biopsy in some cases.

It is noteworthy that there is currently no cure for muscular dystrophy. However advancements in medical research have significantly improved symptom management. Treatment options include:

• Physiotherapy to maintain mobility and prevent contractures
• Medications such as corticosteroids to slow muscle degeneration
• Assistive devices like braces, walkers or wheelchairs
• Speech and respiratory therapy for advanced cases
• Cardiac monitoring for forms that affect the heart
• Emerging gene therapies, which offer promising future possibilities

Surviving Muscular Dystrophy

Muscular Dystrophy is a dire disease but with early intervention, multidisciplinary care and emotional support, individuals with muscular dystrophy can lead fulfilling lives. Families benefit greatly from regular follow-ups, physical rehabilitation and awareness of ongoing research.