Duchenne muscular dystrophy (IN HINDI) | Etiology | Symptoms | Diagnosis | Management

Summary

The video introduces Duchenne Muscular Dystrophy (DMD), a genetic disorder predominantly affecting males due to X-chromosome mutations. The speaker explains its cause, symptoms, and diagnosis, such as muscle weakness, difficulty walking, and respiratory issues. Key signs like Gower’s sign are highlighted, where a child uses their hands to stand up. Diagnosis involves tests like creatine kinase levels and muscle biopsies. The video emphasizes physiotherapy as the primary treatment, focusing on strengthening muscles, improving endurance, correcting posture, and respiratory exercises. The content aims to educate viewers on DMD's symptoms, diagnosis, and management strategies.

Takeaways

• 👋 Introduction to DMD (Duchenne Muscular Dystrophy) and its genetic nature.
• 🧬 DMD is a genetic disease, more common in males due to the presence of a single X chromosome.
• 👶 DMD is diagnosed in early childhood, usually between the ages of 0-5 years.
• 💪 The disease involves a deficiency of the dystrophin protein, which affects muscle strength.
• 🧠 Dystrophin deficiency leads to muscle weakness and loss of muscle function, affecting daily activities like walking and running.
• 🔍 A key diagnostic sign of DMD is Gower's sign, where a child uses their hands to stand up due to muscle weakness.
• 🫀 DMD can affect the heart and respiratory muscles, leading to complications like cardiomyopathy and breathing difficulties.
• 🦵 Muscle hypertrophy, especially in calf muscles, is a common symptom, despite overall muscle weakness.
• 🩺 Diagnostic tests for DMD include creatine kinase levels, EMG, muscle biopsy, and cardiac screenings.
• 💡 The primary treatment for DMD is physiotherapy, focusing on increasing muscle strength, range of motion, and respiratory exercises.

Q & A

What does DMD stand for and what is its main cause?

DMD stands for Duchenne Muscular Dystrophy. It is primarily a genetic disorder caused by mutations in the dystrophin gene, which is responsible for muscle strength and function.

Why is DMD more common in males than females?

DMD is more common in males because it is linked to the X chromosome. Males have one X and one Y chromosome, so if the dystrophin gene on the X chromosome is faulty, they develop the disease. Females have two X chromosomes, and the normal gene on the second X can often compensate for the faulty one.

At what age is DMD typically diagnosed?

DMD is usually diagnosed in early childhood, often between the ages of 0 to 5 years.

What is the role of the dystrophin gene in the body?

The dystrophin gene provides instructions for making a protein called dystrophin, which helps strengthen muscle fibers and protect them from injury during contraction and relaxation.

What is Gower's sign and how is it related to DMD?

Gower's sign is a clinical indicator of muscle weakness, commonly seen in children with DMD. It involves using the hands to push off the ground and 'climb up' their own body to stand due to weakened leg muscles.

Does DMD affect sensory functions?

No, DMD does not cause sensory loss. It primarily affects muscle function, but the ability to feel sensations remains intact.

What are the common symptoms of DMD besides muscle weakness?

In addition to muscle weakness, DMD can cause difficulty walking and running, a waddling gait, breathing problems due to diaphragm muscle weakness, and an enlarged calf muscle (pseudohypertrophy).

How is DMD diagnosed through medical testing?

DMD diagnosis involves tests such as elevated creatine kinase levels, electromyography (EMG) to check muscle activity, muscle biopsies, and genetic testing for dystrophin mutations. In cases of cardiac complications, screening tests may also be performed.

What is the primary treatment approach for DMD?

The primary treatment for DMD is physiotherapy, which focuses on improving muscle strength, endurance, body alignment, and respiratory function. There is no cure, but physiotherapy helps manage symptoms and improve quality of life.

How does physiotherapy help patients with DMD?

Physiotherapy helps by promoting muscle strength, increasing the range of motion, correcting body posture, and improving respiratory muscle function. Techniques such as passive stretching, muscle strengthening, and breathing exercises are commonly used.