Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a form of a rapidly progressive muscular dystrophy that is the utmost deadly disorder diagnosed in childhood effecting children. DMD can occur as early as infancy and as late as age six. The disorder affects mostly males, because the Duchenne gene is located on the X-chromosome. DMD happens across all races and through rare, females can be diagnosed. The mutated DMD gene is typically inherited in a recessive manner, however it often occurs in families with no known history of the illness.

Duchenne muscular dystrophy is triggered by the deficiency of the protein dystrophin that support muscle cells and keeps them whole. The shortage of dystrophin in cells causes continuing muscle weakness making the

muscle cells infirmed and easily damaged. Because the dystrophin protein is missing, muscles are fragile in the whole body causing serious medical problems affecting major organs such as the heart and lungs. Someone diagnosed with DMD, typically live only until their late twenties. Due to advance in medical research, life expectancy is slowly increasing.
Consequently, there are several collective signs of DMD that assist with the diagnosis of the syndrome. Normally, the first symptoms noticed are a delay of sitting and standing, a hard time lifting of the head due to a weak neck, not walking by fifteen months and not talking as wells as other children at the same age group. When DMD transpires, it begins in the lower extremities and advances upward effecting all the muscles. Progression causes the condition to become severe.
Children with DMD have trouble walking and typically require a wheelchair before they reach their teens. Affected people loss their reflexes, develop scoliosis, encounter bone thinning, mental diminishing, breathing difficulties, difficulty swallowing and pulmonary and cardiac problems. Some people experience muscle cramps, but the muscle deterioration usually is not painful. Any painful symptoms can be treated with over the counter pain relievers. Muscle contractions occur in the calve muscles, which are enlarged due to the fact that muscle tissue is replace with fat.
Though, DMD causes the loss of mobility, the breathing complications and cardiac difficulties are the common causes of death.

Beginning nearby age ten, the muscles that operate the lungs weaken, making the lungs have difficulty moving air instigating shortness of breath, headaches, not being able to concentrate or stay awake. The enfeebled pulmonary muscles make it tough to cough causing a simple cold to progress to pneumonia. Due to a lack of the dystrophin protein, muscles in the heart become weak, causing acute damage to the heart that are life endangering such as fluid retention around the heart.

To be diagnosed early is important to having a medical treatment personalized. DMD is diagnosed in numerous techniques. Early in the process of identifying, a blood test is performed to check the levels of Creatine Kinase (CK). If a high level of CK is discovered in the blood, it signifies the muscle is being destroyed. The next most common step is taking a sample of the muscle during a biopsy procedure to check for the quantities of

dystrophin.
The muscle biopsy is vital for the diagnosis of DMD. If no dystrophin protein is detected, the ailment is DMD, if a miniscule amount of dystrophin protein is found, the patient may have Beckar muscular dystrophy which is a slighter form of DMD. Analyzing the DNA of blood cells by performing genetic testing is the surest way to detect DMD due to the medical advancement over the years. Genetic testing looks for changes in the genes, which makes the detection of DMD, ninety-five percent accurate. A combination of all the methods are used to discover DMD and a treatment plan is formed.
Since there is not a cure for DMD, medical handling is targeted at the symptoms.

There are more than a few experimental drugs in development that necessitate the individuals’ specific genetic mutation making genetic testing imperative. “As of, most therapies for DMD are supportive in nature, but research to develop truly disease modifying therapies is under way.” . Medical treatment for DMD various depending on the person, however customary types are steroids, physical therapy, exercise, cardiac care, pulmonary case, and a healthy diet.

Prednisone, a steroid medication, has presented to slow the disease and extend the ability to be mobile for up to five years longer than normally would be without the steroid. Prednisone can essentially reduce the advancement and increase strength in the muscles. Exercise builds muscle and strength, and sufferers of DMD benefit significantly. Exercise should be monitored by a doctor, attributable to muscle straining. Water exercise seem to be the most effective to retain muscle tone without the added

stress.
Physical therapy monitored by a certified therapist promotes mobility and can reduce the necessity for surgery. Although, no diet restrictions are known to help, the doctor would feasibly recommend a meal plan high in fruits, vegetables, and liquids. Calorie intake should be regulated since movement is compromised. Excess weight places a strain on already declining muscles.
Since, heart problems are common to the disorder, individuals should have an evaluation by a cardiac specialist starting at the beginning of the diagnoses. DMD suffers should continue to visit at least once a year to check the status of any compromising of the heart muscles.