Duchenne and Becker muscle degenerative diseases are genetic diseases that result from a mutation in the gene of the dystrophin protein, a protein essential for muscle function in the body. It is necessary for maintaining the integrity of the muscle cells’ membranes. Due to the mutation, the muscle cells become fragile and unable to function. The Duchenne disease is the more severe form of muscular dystrophy, and Becker disease is the milder form of muscular dystrophy in children. The syndrome is characterized by the destruction of muscle cells (muscular dystrophy), which are replaced by fat cells and connective tissue. The clinical manifestation of muscle mass loss is the limitation of mobility, disability, and death in the third decade of life when the heart and respiratory muscles are damaged. Duchenne muscular dystrophy is diagnosed in one in 3500 – 4000 boys. However, some girls suffer from milder symptoms of the disease, such as heart’s or legs’ weakness.

Because the dystrophin protein gene is found on the X chromosome, it is inherited from the carrier mother, and the disease mainly affects boys. About a third of cases occur randomly, so that this disease may appear even without a family history. Although the genetic defect is common to Duchenne and Becker diseases, there is some variation in the classification of diseases, since, in Duchenne patients, no dystrophin production occurs at all, whereas in patients with Becker disease, dystrophin is partially produced, which is not fully functional.

The initial symptoms of the disease appear in boys around the ages of 3 – 4. The weakness is first manifested in the leg area. Relatively multiple falls, walking on tiptoe, difficulty running, and climbing stairs can be noticed. Next, around adolescence, weakness also appears in the muscles of the hands. Other early signs are hypertrophy (enlargement of the calf muscles), lack of endurance, and difficulty standing without support and climbing stairs. Around the age of 12, most patients use a motorized wheelchair. Later there is difficulty breathing. Eventually, the loss of muscle progresses to the loss of total voluntary mobility and even complete paralysis.

Intelligence disorder exists in some cases but does not progress with the disease. The disease is associated in some cases with mild but significant difficulties in a variety of neuro-behavioral areas. It is likely related to impaired dystrophin levels in the brain’s neural circuitry, including the cerebellum, hippocampus, and part of the cerebral cortex called the neo-cortex. The life expectancy of those suffering from the disease has been extended. It moves around the third decade of their lives due to advanced pulmonary and cardiac care capabilities developed in recent years. New drugs and technologies in clinical research may prolong Duchenne’s and Becker’s patients’ life expectancy.