Muscular Dystrophy

Muscular dystrophy is a category of muscular illnesses that are hereditary and worsen over time. Muscle disorders are illnesses that are passed down through generations. Many diseases can be passed on to children through the mother’s, father’s, or both parents’ disease-carrying genes. The most important factor that raises the frequency of muscle disorders in Turkey is the predominance of consanguineous marriages. Muscle illness can occasionally be found in children who do not have a family history of the disease. This scenario arises as a result of random gene mutations (changes in gene structure that can lead to diseases).

The loss of a person’s capacity to conduct activities and functions is the most serious problem produced by gradual muscle weakening in people with muscular dystrophy. It has a severe impact on children’s independence by producing insufficiency in many functional tasks such as getting up from the ground, walking, and going up and down the stairs, owing to the weakening of the muscles surrounding the hips. As a result of significant and increasing muscular weakening, body alignment may be compromised. Shortening of some muscles and resultant limits in ankle, knee, and hip joint motions may develop as a result of the strength imbalance in the muscles surrounding the joint. Scoliosis is a kind of spine curvature caused by increasing spinal muscular weakness and the kid falling to one side without support.

• Duchenne Muscular Dystrophy is the most prevalent kind of muscular dystrophy, affecting around one out of every 3500 live male births. Males are the sufferers, while females are frequently carriers. It mostly affects the shoulder and hip muscles that are adjacent to the spine, and muscular weakening in the arms and legs is noted as the condition advances. The condition generally manifests itself between the ages of 3 and 6, with difficulties in walking occurring before the age of 3. The early indicators of the condition include shaky walking, difficulty climbing stairs, and toe walking. In Duchenne muscular dystrophy patients, the ankle does not come backwards, the knee does not fully straighten, and the low back slump increases.

One of the most common symptoms of the condition is the formation of fake growth (pseudohypertrophy), particularly in the calves. Joint stiffness or contracture may occur as the condition advances. Because the condition affects the muscles, it also has an impact on the heart and lungs.

• Becker Muscular Dystrophy: It is similar to Duchenne muscular dystrophy in that it develops later in life and progresses more slowly in terms of muscle function degeneration. While some patients’ symptoms appear early, some patients’ walking begins to worsen beyond the age of 20. Becker muscular dystrophy, like Duchenne muscular dystrophy, causes respiratory and cardiac complications.
• Emery-Dreifuss Muscular Dystrophy: Emery-Dreifuss Muscular Dystrophy is an uncommon muscular disease caused by a genetic malfunction in the X chromosome. The condition causes slow-progressing muscle disease, cardiac muscle disease, and early joint stiffness. Clumsiness, weakness, and toe walking are early indicators.

Rare muscular dystrophies such as limb-girdle muscular dystrophy and fascioscapulohumeral muscular dystrophy are examples of other kinds of muscular dystrophy.

The importance of genetic testing in the early diagnosis of muscular dystrophy illness cannot be overstated. Blood testing, EMG (electroneuromyography), and muscle biopsies are necessary to diagnose these individuals. Radiological imaging modalities such as x-ray, muscle ultrasonography, and MR (magnetic resonance imaging) are also performed if necessary.

Although there is no definitive treatment for the condition, treatment is provided by the departments of pediatric neurology, chest diseases, physical therapy and rehabilitation, and orthopedics to minimize any complications that may emerge. When required, supportive pharmacological therapies are given. Gene therapy research is still ongoing.

The motor system, as well as the heart and breathing system, are all affected by muscular dystrophy. In this regard, a multidisciplinary approach to the disease’s follow-up is critical. Joint stiffness (contractures) can be avoided and the duration of mobility extended in children with muscular dystrophy when physical therapy and rehabilitation programs are used. Patients should not be extremely exhausted when exercising, and they should take regular rest periods in their everyday lives as well as throughout their workouts.

The primary goal of orthopedic surgical procedures is to maintain the patient’s functional status. Spinal abnormalities are the most common condition among children who lose their ability to walk and are confined to a wheelchair. Joint stiffness can be surgically addressed, and spinal abnormalities can be surgically corrected as well.