Duchenne Muscular Dystrophy

Every year, on World Duchenne Muscular Dystrophy Day, we come together to shed light on this rare but devastating degenerative disease. The theme for this year’s observance is “Duchenne: Breaking Barriers.”

Contents

What is Duchenne Muscular Dystrophy (DMD)?

Definition

Duchenne Muscular Dystrophy is a rare, genetic degenerative disease that primarily targets the muscles. It is one of the most severe forms of muscular dystrophy.

Symptoms

Progression

DMD is characterized by the gradual weakening of muscles over time, which eventually affects the entire body.

Physical Symptoms

Walking Challenges: Children with DMD often experience difficulty walking and may require mobility aids or a wheelchair as the disease progresses.
Motor Function Deterioration: Muscle weakness and loss of motor function are common, impacting a person’s ability to perform everyday tasks.
Breathing and Heart Function Affected: The heart is also a muscle, and as DMD progresses, it can lead to respiratory and cardiac problems, requiring medical intervention.

Cognitive Symptoms

Learning and Behavioral Problems: DMD can also affect cognitive functions, leading to learning difficulties and behavioral problems. This is believed to be related to the role of a missing protein in the brain.

Significance of Duchenne Muscular Dystrophy

Most Common Hereditary Neuromuscular Disease

Duchenne Muscular Dystrophy holds the unfortunate distinction of being the most common hereditary neuromuscular disease. Despite its rarity, its impact on those affected is profound, emphasizing the need for awareness and research.

How Does Duchenne Muscular Dystrophy Occur?

Cause

DMD is caused by a mutation in the X-chromosome. It primarily affects males, as they have one X and one Y chromosome. Females, with two X chromosomes, typically carry the mutation without displaying severe symptoms.

Who Does Duchenne Muscular Dystrophy Affect?

Prevalence

Statistics indicate that approximately one in every five thousand boys is born with Duchenne Muscular Dystrophy. It is typically a condition present from birth.