Muscular dystrophy

Muscular dystrophy (MD) is the name given to a group of diseases that cause progressive weakness and loss of muscle mass. Muscle diseases often occur at an early age. Although congenital muscular dystrophies start to show symptoms from birth, symptoms in other diseases of this group usually begin after the age of three.

Duchenne muscular dystrophy (DMD) is the most common congenital muscle disease. Since the disease is transmitted by the X chromosome, the majority of patients are men. The incidence of this disease, which is 1 in 3,500 in men, is expressed in figures of 1 in a million in women. More than 30 muscular dystrophy diseases have been described today. These diseases differ according to the genes that cause disease, the affected muscles, the age at which symptoms first appear, and the progression age of the disease, and are classified accordingly.

Muscular dystrophies can be genetic or can occur as a result of changes in genes. In Duchenne and Becker muscular dystrophies, there is a deficiency in the synthesis of a protein called dystrophin, which is genetically responsible for muscle nutrition. In this disease, since the dystrophin gene is carried on the X chromosome, it is X-linked and is very common in males.

Most of the symptoms of congenital muscle diseases occur in childhood or adolescence. Congenital muscular dystrophies only start from birth or within the first 2 months and can be seen in both sexes. General symptoms include: - Walking on toes - Having weak muscles, falling frequently - Recurrence of muscle cramps - Difficulty getting up, climbing stairs, running and jumping - Often having a curved spine (scoliosis) Duchenne muscular dystrophy (DMD), which is the most common among muscular dystrophies, begins to show symptoms at the age of 3–5. Sometimes it may occur at an earlier age with symptoms such as late start to walk, laxity in muscles and falling while walking. Generally, the first finding is the inability to straighten the head from the lying position due to the weakness of the neck muscles. Clumsiness, falling, and inability to play games with peers occur. This situation worries the family. A duck-like, rocking gait occurs as a result of the involvement of the shoulder and hip muscles. Therefore, the first symptoms are difficulties and frequent falls, especially when getting up from the ground, climbing stairs, or climbing uphill. Children can often stand up with their hands resting on the ground. Most of the other congenital muscle diseases, except DMD which occurs early, start at the age of 10–20. DMD progresses slowly (by creating a decrease in muscle strength) in children and can reach levels that can make them need a wheelchair at the age of 7–12. These people may need assistance in moving their arms, legs and bodies as a teenager. Most of the patients die in their 20s due to respiratory or cardiac reasons. The muscle breakdown in DMD does not cause any pain in the patient.

The frequent falls of children cause families to consult a doctor. Diagnostic tools include: - Blood test; CK is very high, genetic tests are applied - Muscle biopsy; shows changes in the muscles - EMG; indicates disturbances in muscle conduction and contraction - Muscle strength and reflex tests help the diagnosis

There is no treatment method for DMD yet. Steroid drugs, some devices and physical therapy can be tried to extend the range of motion in patients. Supportive methods such as occupational therapy, speech therapy and pulmonary rehabilitation can be used in addition to physical therapy. Exercise should be done at a level that does not create fatigue. In order not to make children overweight, it is necessary to stay away from sugary, flour foods and beverages such as cola. In the treatment, it should be aimed to give the child a happy childhood. In DMD patients, a special sling should be worn, including the ankles, in order to prevent the ankles from looking downward, especially when lying down. Mothers known to be carriers of DMD should undergo genetic testing. As a result of genetic tests in new pregnancies, it will be understood to a great extent whether the fetus has DMD.