What is Muscular Dystrophy?
Muscular Dystrophy (MD) is a group of diseases that cause progressive weakness and loss of muscle mass. Muscle diseases often appear at an early age. Although congenital muscular dystrophies start showing symptoms from birth, symptoms of other diseases in this group generally begin after the age of three.

Duchenne Muscular Dystrophy (DMD) constitutes the most common group among congenital muscle diseases. Since the disease is carried on the X chromosome, the majority of patients are males. The incidence in males is approximately 1 in 3,500, whereas it is extremely rare in females, occurring at a rate of about one in a million. To date, more than 30 types of muscular dystrophy have been identified. These diseases differ according to:

• The genes causing the disease,
• The muscles affected,
• The age at which symptoms first appear,
• The age at which the disease progresses,

and are classified accordingly.

What Causes Muscular Dystrophies?
Muscular dystrophies can be genetic or result from mutations in genes. In Duchenne and Becker muscular dystrophies, there is a genetic deficiency in the synthesis of a protein called dystrophin, which is responsible for nourishing the muscles. Since the dystrophin gene is carried on the X chromosome, the disease is inherited in an X-linked pattern, and is very common in males.

What are the Symptoms of Muscular Dystrophies?
Most symptoms of congenital muscle diseases appear during childhood or adolescence. Only congenital muscular dystrophies start at birth or within the first two months and can affect both sexes. General symptoms include:

• Walking on tiptoes,
• Having weak muscles and frequent falls,
• Recurrent muscle cramps,
• Difficulty standing up, climbing stairs, running, and jumping,
• Often having a curved spine (scoliosis).

Among muscular dystrophies, Duchenne Muscular Dystrophy (DMD) is the most common and typically begins showing symptoms between ages 3 and 5. Sometimes symptoms such as delayed walking, muscle laxity, and frequent falls can appear earlier. The first sign is usually the inability to raise the head from a lying position due to weakness in neck muscles. Clumsiness, falling, and inability to play with peers cause concern for the family. Weakness in shoulder and hip muscles leads to a waddling gait. Early signs especially include difficulty rising from the ground, climbing stairs, walking uphill, and frequent falls. Children often use their hands to push off the floor to stand up.

How Does Muscular Dystrophy Progress?
Except for early-onset DMD, most congenital muscle diseases begin in the teens or twenties. DMD progresses slowly in children (causing gradual muscle weakness) and by ages 7-12, it may cause patients to require a wheelchair.

These individuals may need help moving their arms, legs, and bodies during adolescence. Most patients die in their twenties due to respiratory or cardiac complications. Muscle wasting in DMD does not cause pain.

How is Muscular Dystrophy Diagnosed?
Frequent falling in children leads families to seek medical advice.

• Blood tests: Creatine kinase (CK) is markedly elevated; genetic tests are performed.
• Muscle biopsy: Shows changes in the muscle tissue.
• Electromyography (EMG): Shows abnormalities in muscle conduction and contraction.
• Muscle strength and reflex tests aid diagnosis.

How Should Muscular Dystrophy be Treated?
There is currently no cure for DMD. Steroid medication, certain devices, and physical therapy may help prolong mobility.

Supportive therapies such as occupational therapy, speech therapy, and pulmonary rehabilitation can be used in addition to physical therapy. Exercises should be done at an intensity that does not cause fatigue. To prevent obesity, children should avoid sugary, flour-based foods and soda.

The goal of treatment is to give the child a happy childhood.

Special braces that include the ankles should be worn in DMD patients, especially during sleep, to prevent foot drop.

Mothers known to be carriers of DMD should undergo genetic testing. Prenatal genetic testing in new pregnancies can largely determine if the fetus has DMD.