Duchenne Muscular Dystrophy – Causes, Symptoms, and Complications

Symptoms of Duchenne muscular dystrophy (DMD) include a lack of muscle strength and a weak heart. People with this disorder also have respiratory problems. A severe chest infection can increase the risk of death.

In the first few years of life, most boys with Duchenne show no symptoms. However, by the age of three or four, children begin to exhibit signs of the disease. During this time, the legs are affected before the arms. They also have trouble moving around and are more likely to fall. By the age of twelve, children with DMD may no longer be able to walk.

A person with DMD will have a decreased amount of a protein called dystrophin in their muscles. This protein is necessary for muscles to function properly. A shortage of dystrophin leads to damage to the fibres in the muscles.

If your child has DMD, they will need regular heart checkups throughout their childhood. These checkups will include an electrocardiogram and an echocardiogram. An echocardiogram is used to measure the strength of the heart.

If you have a family history of DMD, you can take your child for prenatal testing. These tests will determine whether your unborn child has a genetic mutation. It is important to receive an accurate diagnosis as soon as possible.

When a baby with DMD is crawling or sitting up on their own, a physical therapist with experience in treating muscular dystrophy will notice a curved back. Occasionally, a person with DMD will experience muscle cramps. These cramps can be relieved with over-the-counter pain relievers.

Girls are at risk of developing Duchenne because they can pass the gene on to their children. Girls with DMD can experience milder symptoms than boys. Having a girl with the gene increases the chances that she will develop heart problems later in life.

While there is no cure for Duchenne, treatment can help improve the quality of life for a person with the disorder. This can include medications that treat cardiomyopathy, a condition where the heart muscles are damaged. It can also involve physical therapy and stretches to maintain muscle strength. There are also various charities that provide care and support.

Causes

Having a family history of Duchenne muscular dystrophy increases your risk for the disease. It is important to know the cause of the disease to better understand its impact on your life. There is currently no cure for the disorder, but advances in treatment have improved life expectancy for those who have it.

The disease is caused by a genetic mutation. The mutation is usually found on the X chromosome. Having a mutation in this gene causes the muscles to weaken. This leads to difficulties with walking and motor functions.

This condition is most common in males. However, women are sometimes affected. If a female has a mutated gene, she has a one in two chance of passing the gene on to her children.

The first symptoms of the disease begin in the pelvis and legs. The calves and upper arms may also become weak. Muscle weakness becomes worse day by day.

The signs of Duchenne muscular dystrophy include a super crooked spine, progressive muscle weakness, delayed motor milestones and a reduced ability to walk. These symptoms are often associated with elevated levels of creatine kinase in the blood.

The main goal of treatment is to improve the quality of life for the patient. Some people with DMD experience learning disabilities. It is also possible to get heart problems, especially cardiomyopathy. An electrocardiogram can be used to check for complications.

In some cases, the affected child may be wheelchair-bound by age 13. They may also have cognitive and learning problems. The condition can be fatal. Most people with DMD die by the late teens or early twenties.

A medical team can design an exercise program to help the child stay flexible and active. The healthcare team can also prescribe medications to slow down the progression of the disease. There are also medicines that can prevent heart failure. ACE inhibitors, beta-blockers, and corticosteroids can also be used to help prevent the disease.

The underlying cause of Duchenne muscular dystrophy is a genetic problem in the production of the dystrophin protein. This protein is critical to the integrity of the muscle fibres. The body uses the protein to protect the muscle cells from injury and to keep them strong. The protein also plays a role in chemical signalling within the cell.

Treatment options

Those affected by Duchenne muscular dystrophy (DMD) have a rare and devastating genetic disorder. The condition is characterized by progressive muscle weakness and muscle breakdown. It is caused by mutations in the DMD gene. Symptoms begin in infants and usually worsen over time.

Although there is no cure for the disease, there are treatment options that can help improve the quality of life for people with DMD. These include medications, physical and occupational therapy, and surgical procedures. The goal of each treatment is to prolong the patient’s ambulation and improve the quality of life.

Medications and cellular therapies are under investigation in clinical trials for Duchenne. These therapies aim to replenish the muscle stem cells that are depleted by the disease. These stem cells are activated to grow new muscle fibres.

In addition to medicines, physical and occupational therapy can improve the health of children. These programs can also create exercise plans for patients. Depending on the type of muscular dystrophy, the patient may need other specialists. These professionals can include respiratory and cardiac specialists.

The use of steroids has been shown to delay the loss of muscle strength. However, these drugs can cause bone problems such as osteoporosis. They can also cause weight gain and behavioural changes.

Some patients require surgery to correct scoliosis. A gastrostomy feeding tube can also be used to deliver nutrients directly into the stomach. In the later stages of the disease, the use of a mechanical ventilator can provide life-sustaining treatment.

In addition, clinical trials are investigating the use of cardiosphere-derived cells to restore muscle function in people with DMD. These cells are derived from human heart tissue. In these trials, the cells have been used to treat a few boys with the disease.

Corticosteroids can also slow the progression of the disease. These drugs can be taken daily or as a high-dose weekend regimen. They have been shown to delay the loss of muscle strength and delay the development of scoliosis. They can also be used to prevent respiratory infections.

A multidisciplinary healthcare team is capable of dealing with the full range of Duchenne symptoms. This is crucial in ensuring the best possible care.

Complications

Those with Duchenne muscular dystrophy are at risk for a number of complications. In addition to muscle weakness, they can also have problems with heart and lung function. Those with the disease have a higher risk of blood clots and kidney damage. Their breathing is usually impaired and they require more frequent respiratory support. In some cases, a cardiac defibrillator or pacemaker may be necessary.

Children with Duchenne are often slower to walk. They may also have difficulty standing and sitting. They can also be slow to learn to jump. As they grow older, their muscles become weaker. They can be prone to falls, which can lead to spinal cord injuries or scoliosis.

The most common symptom is muscle weakness. The muscles in the body are made up of bundles of long fibres. Each of these fibres contracts when nerve signals travel to a specific location. When the muscle fibres contract, chemicals flood the bloodstream, causing a number of metabolic changes. The chemicals cause the muscles to break down quickly. This leads to a condition called rhabdomyolysis, which can result in kidney failure.

The disease is caused by a mutation in the DMD gene. This gene is located on the x chromosome and occupies just 1% of the DNA. It is a crucial protein in the muscle cells, which enable the body to have strength. However, a mutation in this gene can cause problems with the way the muscles function.

Because the muscle cells cannot make the protein, they can be damaged. As the muscle weakens, breathing becomes harder. This can lead to infections of the chest. If the infection is severe, it can spread to the lungs or brain.

The other major complication of the disease is cardiovascular disease. A heart attack is a rare occurrence, but if it happens, it can be life-threatening. Other potential complications include obesity, cardiovascular problems, and metabolic disorders.

Getting a diagnosis is essential. The sooner you know about the problem, the better your chances are of being able to treat it. The best time to have your child tested for DMD is during the third or fourth year of life. If you suspect your baby has the disease, contact your local health department or local social services for information. Various charities provide assistance to families.

More info on https://www.nhs.uk/conditions/muscular-dystrophy/