What is DMD Disease? Causes, Symptoms, and Treatment

Duchenne Muscular Dystrophy (DMD) is a genetic neuromuscular disease that occurs due to a mutation in the dystrophin gene leading to progressive muscle fibre degeneration. Due to the body’s inability to replace dead cells with new ones, the muscle fibres are then replaced with adipose and connective tissues over time, causing extreme muscle weakness.

DMD affects male children primarily, and very rarely may occur in females.

DMD disease is quite severe but the symptoms can be managed with proper medication and physiotherapy to slow down its progression.

What is Duchenne Muscular Dystrophy?

Duchenne Muscular Dystrophy is a severe form of hereditary muscular dystrophy that occurs due to a mutation in the dystrophin gene (one of the largest genes), further limiting the production of dystrophin protein (a large cytoskeleton protein). It plays a critical role in retaining muscle integrity.

Declining DGC and dystrophin proteins lead to excessive membrane permeability/fragility, progressive muscle fibre degeneration, muscle weakness, oxidative damage, and dysregulation of calcium homeostasis.

Eventually, patients with DMD may not be able to carry out daily activities due to extreme muscle weakness.

In this condition, orthopaedic and cardiac complications are also common.

Signs and Symptoms of DMD Disease

Duchenne Muscular disease is more common in males and typically symptoms appear after 2 years of age, but even adults may be affected by DMD.

Early Signs of DMD disease are:

• Stiffness and pain in muscles
• Increased size of calf muscles
• Upper arm, upper leg, neck, and pelvis muscle weakness
• Walking on toes
• Difficulty in standing or sitting
• Slow speech development
• Behavioural and learning disabilities
• Difficulty in climbing, jumping, and running
• Waddling walk
• Frequent falls
• Bone thinning

As DMD progresses, patients may also witness the following:

• Progressive weakness and loss of heart and skeletal muscle
• Inability to move due to a decrease in tendons and muscles
• Respiratory impairment
• Curved spine (Scoliosis)
• Cardiomyopathy or other heart issues
• Difficulty in swallowing (may lead to aspiration, pneumonia, obstructed airways)
• Cognitive abnormality and Intellectual Impairment
• A bent joint that cannot become straight

What Causes DMD?

Genetic mutation of the dystrophin gene causes DMD disease.

Humans have 46 chromosomes; 23 of them (including the X chromosome) are inherited from the biological mother and 23 (either the X or Y chromosome) from the biological father.

X Chromosome has the DMD gene.

Typically, male infants get an X chromosome from the mother and Y from the father. If they inherit an X chromosome with a defective gene, they do not possess another copy of this gene to produce dystrophin protein. Hence, they are likely to get DMD disease.

Female infants have two X chromosomes inherited from each parent. Even if one X chromosome has a defective gene, they still have another healthy one. Hence, females rarely get DMD disease.

Who is at Risk of DMD disease?

Anyone with a family history of DMD is at risk of inheriting the disease. Sometimes, the defective gene may pass down for generations before symptoms show up in a child.

Sometimes, DMD may randomly occur during cell division as well.

How is DMD Diagnosed?

DMD disease can be diagnosed through the following:

• Blood test (Creatine Phosphokinase test)
• Muscle biopsy
• EKG
• Study of family history
• Studying symptoms, and physical examination

Homeopathic DMD Disease Treatment

There is no known cure for DMD. However, homeopathic medication can improve the symptoms, slow down the progression of DMD, and increase life expectancy.

Proper homeopathic medication with physical therapy will strengthen the muscles and prolong their function and mobility.

Outlook

DMD is a degenerative disease, meaning the symptoms worsen over time.

Hence, diligent care, medication, physical therapy, a healthy diet, exercise, and in some cases additional aid may be required such as breathing assistance devices, a wheelchair, orthopaedic braces, heart monitoring devices, etc.

Patients must also get enough Vitamin D and Calcium to retain bone health.

Frequently Asked Questions about DMD

1. Is DMD Preventable?

Since DMD is a genetic disease, you cannot prevent it. Genetic testing is a good method to know whether you are a silent carrier of the defective gene.

2. Is there a Permanent Cure for DMD?

Proper medication can significantly manage the symptoms, improve life expectancy, and slow down the progression of the disease. However, there is no permanent cure for DMD yet.

Conclusion

At PMRI Homeo, our team of highly experienced homeopathic doctors specialize in Duchenne Muscular disease treatment.

We offer effective homeopathic medication, with ultra-modern physiotherapy to manage the symptoms and improve muscle strength and mobility. We understand that a severe disease like DMD requires a meticulous approach with leading-edge medical technologies. Hence, our doctors use a multidisciplinary approach for DMD disease treatment with proper physical therapy to enhance quality of life.

If you are experiencing any of the symptoms mentioned above, you can book an online consultation below for further medical assistance. Our expert Homeo doctor will study your case, evaluate your family history, and prescribe necessary medication based on your symptoms.

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