Duchenne muscular dystrophy (DMD) is a genetic disorder caused by mutations in genes that result in a deficiency of a protein called dystrophin. This deficiency leads to muscle weakness and, over time, the breakdown of muscle fibers. The normal function of the dystrophin protein is to maintain and support the structural integrity of muscle cells. DMD typically begins in boys between the ages of 3 and 5.

A deficiency in the dystrophin protein causes muscle cells to weaken and become weaker. Over time, this leads to muscle loss of function and replacement by fat and connective tissue. This process leads to muscle loss of function and weakness. Dystrophin deficiency leads to the breakdown of muscle fibers, resulting in a decrease in a person's mobility.

DMD can also have negative effects on the heart and respiratory system. As muscle weakening progresses, the respiratory and heart muscles may also weaken. This can lead to serious complications such as respiratory failure and heart problems in the later stages of the disease. While there is currently no definitive cure, various treatment methods and rehabilitation programs are available to alleviate symptoms and improve quality of life. Early diagnosis and treatment are crucial for slowing the disease's progression and managing symptoms.

Symptoms of Duchenne muscular dystrophy (DMD)

• Muscle weakness and atrophy (loss of muscle mass) begin, especially in the legs and pelvis.
• Growth or volume increase (hypertrophy) in the calf muscles may become evident.
• Difficulties may be experienced in daily activities such as climbing stairs and walking.
• Over time, walking difficulty may increase and worsen.
• Frequent falls and balance problems may be observed.
• Learning difficulties may occur.
• A waddling gait may occur.
• Walking on toes or toe walking may be observed.
• There may be a feeling of weakness and fatigue.
• Difficulty may be experienced when getting up from a sitting position.
• Difficulties may be observed in activities such as running or jumping.
• Muscle aches and stiffness may be felt. Speech and language development may be delayed.

What causes Duchenne muscular dystrophy (DMD)?

Duchenne Muscular Dystrophy (DMD) is caused by a genetic mutation resulting from the deficiency or disruption of a protein called dystrophin, located on the X chromosome. Because DMD is an X-linked (sex-linked) disease, a genetic mutation is known to cause this disease.

Because women have two copies of the X chromosome, if a gene on one copy mutates, the healthy gene on the other copy can usually compensate. Therefore, women are generally less prone to DMD. However, because men have only one copy of the X chromosome, if the gene on that chromosome mutates, symptoms can appear.

DMD causes muscle fibers to break down over time and be replaced by fatty tissue. This leads to muscle dysfunction, weakness, and loss of function. In later stages of the disease, muscle loss increases, affecting key muscle groups such as the respiratory and cardiac muscles.

What causes Duchenne muscular dystrophy (DMD)?

Because Duchenne Muscular Dystrophy (DMD) causes muscle weakness and loss of function, it can affect various vital functions. DMD can cause the following conditions:

• Difficulty walking: The first symptoms of the disease often manifest as difficulty walking and balance problems. Over time, muscle weakness increases, making walking difficult.
• Arm and shoulder weakness: Weakness and weakness are seen, especially in the muscles around the shoulders. This can make it difficult to perform daily activities.
• Respiratory problems: Difficulty breathing may occur as a result of weakening of the respiratory muscles. In advanced cases, the use of a respirator may be necessary.
• Heart muscle damage: Over time, the disease can also affect the heart muscle. The risk of heart failure may increase.
• Spinal curvature (Scoliosis): Weakened muscles can cause the spine to lose its balance and scoliosis may develop.
• Swallowing problems: Weakening of the swallowing muscles can lead to feeding problems. In some cases, feeding tubes may be necessary.

DMD causes muscle weakness and wasting over time. Over time, this can significantly impact a person's quality of life and cause difficulty performing daily activities.

How is DMD diagnosed?

Various tests and examinations are used to diagnose Duchenne Muscular Dystrophy (DMD):

• Physical examination: The specialist doctor performs a physical examination, looking for muscle weakness, decreased mobility, loss of muscle mass, and other specific symptoms.
• Creatine kinase (CK) blood test: An enzyme called creatine kinase increases in the blood during muscle damage. High CK levels may be a sign of DMD.
• Genetic testing: Genetic testing is performed to identify mutations in the dystrophin gene. These tests can help confirm a DMD diagnosis by detecting dystrophin deficiency or mutations.
• Muscle biopsy: A muscle biopsy may also be necessary to diagnose DMD. A surgical procedure involves taking samples of muscle tissue and examining them. This test can identify dystrophin deficiency or abnormalities.
• Electrocardiogram ( ECG ): Because DMD can affect the heart muscle, your doctor may order an ECG to check your heart health . This test can help evaluate your heart rhythm and function.

Diagnosing DMD may require a combination of methods, including symptom analysis, blood tests, genetic testing, and sometimes a muscle biopsy. The results of these tests and clinical findings are critical in diagnosing the disease.

How is DMD disease treated?

While there is no cure for Duchenne Muscular Dystrophy (DMD), there are treatments available to relieve symptoms, improve quality of life, and slow the progression of the disease:

• Corticosteroids: Used to maintain muscle strength and improve symptoms. Prednisone, in particular, delays muscle weakening and somewhat improves quality of life.
• Cardiac medications: Medications such as ACE inhibitors and beta-blockers may be used to maintain heart muscle strength and function. These medications can reduce the risk of cardiomyopathy.
• Physical therapy: Physiotherapy is important to keep muscles and joints flexible, increase mobility, and prevent contractures (muscle stiffness).
• Surgical intervention: Surgery may be necessary to correct scoliosis (curvature of the spine) and increase mobility.
• Respiratory support: Respirators, tracheostomy (opening of an airway) and ventilation devices may be used to prevent progressive respiratory distress.
• Supportive devices: Supportive devices such as wheelchairs, footrests, and walking aids can be used to assist with mobility.
• Diet and nutrition: A balanced diet is important for maintaining muscle health.

The symptoms and progression of DMD can vary from person to person. Therefore, the treatment plan should be individualized based on the individual's symptoms, age, and overall health. It is important to consult a qualified healthcare professional when developing any treatment plan.

Can DMD be prevented?

Yes, it's currently not possible to prevent the genetic mutation that causes congenital DMD. However, it's possible to be aware of the issue and take some steps:

• Genetic counseling: Individuals who know they are DMD carriers can understand risks and plan for future pregnancies by receiving genetic counseling.
• Genetic testing: Individuals known to be carriers of DMD can have genetic testing during pregnancy to determine whether their baby is a DMD carrier. These tests are highly accurate and can provide important information to the family.
• Early diagnosis and treatment: The family of a child diagnosed with DMD should collaborate with a specialized healthcare team to ensure early diagnosis and effective treatment. Early intervention can help manage symptoms and improve quality of life.
• Family support groups and resources: Families living with DMD can join support groups and access expert resources. These groups provide morale, information, and support.

While it's impossible to prevent DMD, awareness, access to early diagnosis and treatment, family support, and access to appropriate resources are crucial steps in coping with the disease. This can improve the child's quality of life and provide support.

What are the devices used in the treatment of DMD?

Some devices used in the treatment of Duchenne muscular dystrophy (DMD) include:

• Ankle and knee braces: These braces are used to support and immobilize the ankles and knees. This can improve balance and stability while walking by controlling ankle bending and knee movement.
• Protective ankle devices: These special devices, used while sleeping, help keep the ankles in proper position. They help maintain joint flexibility by keeping the feet in the correct position while sleeping.
• Leg splints and slings: Knee or leg splints and slings can partially control leg movement. These devices can help compensate for loss of movement caused by muscle weakness.
• Wheelchair: As DMD progresses, children may begin using a wheelchair. These chairs are used to increase a child's mobility and independence.
• Walking aids: People with DMD may sometimes use special devices called walking aids. These can help them maintain their ability to move and stand.

These devices are used to slow the progression of the disease, restore balance, and maintain independence and mobility as much as possible. However, the devices used and treatment plans are determined by individual needs and the course of the disease. Specialists can recommend specific devices and treatments based on the patient's needs.

What is the life expectancy of DMD disease?

There is no definitive evidence or information that DMD has a lifespan that extends into the 50s. Duchenne muscular dystrophy is generally a lifelong condition with a progressive course. In the past, it was known that DMD patients could live into their 20s.

Today, thanks to better medical care, improved treatment options, and early diagnosis, life expectancy can be extended. However, it's generally rare for people with DMD to live a long lifespan, and they're unlikely to live into their 50s.

Early diagnosis, regular medical follow-up, medical treatment, physical therapy, and appropriate living arrangements to improve quality of life can help patients better manage their lives. However, because DMD is often a progressive condition, long-term life expectancy may be limited. It's important to maintain regular contact with a specialist.