Duchenne muscular dysplasia

Duchenne muscular dysplasia's disease overview

Muscle dysplasia is a group of diseases that make muscles weaker and less flexible over time, in which Duchenne muscular dystrophy (Duchenne Muscular Dystrophy) is the most common type. It is caused by errors in the gene that controls how the body keeps the muscles healthy.

The disease almost always affects boys and symptoms that often start early in childhood. Children with Duchenne muscular dysplasia have a difficult time to stand up, walk and climb the stairs, many people finally need wheelchairs to travel. They may also have heart and lung problems.

Although there is no cure, the advances in caring and treating people with Duchenne muscular dysplasia have been much better, many years ago, children who have diseases often do not live too old. Nien. Today, they live well in their 30s and sometimes at the age of 40 and 50. There are treatments that can reduce symptoms and researchers are still looking for new methods. >

Causes of Duchenne muscular dysplasia's disease

Causes of Duchenne muscular dystrophy due to problems in the patient's genes, because these genes contain the body information needed to produce protein, perform many muscle functions. Different form. The mechanism is as follows: Due to the Dystrophin gene mutation located on sex chromosomes X at the position of XP21.2. The 2400kB long dystrophin gene (the longest gene in humans), including 79 Exon, is responsible for synthesizing Dystrophin protein. This protein has the function of protecting muscle cells, keeping the muscle fiber membrane solid, not damaged. Mutations that can occur on the Dystrophin gene are mutations, segments, segments, small segments and the most common segment.

This situation is more common in boys due to the Duchenne muscular genetic mechanism for children. It means what scientists call a gender -related disease because it is related to gene groups, called chromosomes, determining whether the baby is a boy or a girl. P>

Symptoms of Duchenne muscular dysplasia's disease

If a child has Duchenne muscle nourishment, parents may notice the first signs before the child turns 6 years old. The muscles on the legs are often one of the first affected positions, so children can start to know how much later than other children of their peers. However, when children can walk, they may fall often and have difficulty climbing stairs or stand up. After a few years, the child has a whites or his toes. Over time, the ability to mobilize gradually, lose the ability to walk before 12 years of age and often die at the age of 20 from myocardial damage and respiratory disorders.

complications

Duchenne muscle dysplasia can also damage the heart, lungs and other parts of the body. When growing up, children may have other symptoms, including:

  • Scoliosis
  • Muscular short and firm, called shrinkage
  • Headache
  • Problems with learning and memory
  • Difficulty breathing

    • Sleepy

    Difficulty focus

    Muscle problems can cause cramps sometimes, but in general, Duchenne muscle dysplasia is painless. Children will still control their bladder and intestines, although some children with disorders have learning and behavioral problems, Duchenne muscular dysplasia does not affect their intelligence.

    Transmission route of Duchenne muscular dysplasia's diseaseDuchenne muscular dysplasia

    Duchenne muscular dystrophy is a genetic disease, not infectious disease, so it is unable to spread from patients to healthy people.  

    People at risk for Duchenne muscular dysplasia's disease

    Muscle dysplasia occurs in both sexes and at all ages and races. However, the most common type is Duchenne muscular dystrophy and often occurs in boys. People with a family history of dysplasia are at higher risk of disease or transmitted to their children.

    Prevention of Duchenne muscular dysplasia's disease

    Due to Duchenne muscular dystrophy is a genetic disorder, it cannot be prevented. If the family history has Duchenne muscle dysplasia, these subjects should be genetic screening may be helpful for early diagnosis and early treatment. These genetic tests can be done on adults, children and even fetus in the womb. Once Duchenne muscle dysplasia has been diagnosed, early treatment can help reduce symptoms and slow down the progression of the disease.

    Diagnostic measures for Duchenne muscular dysplasia's disease

    Parents should see a doctor when they notice the above signs, the doctor will exploit the history and examine the child such as:

  • How old are your children when you start to know?
  • Do you notice that the child is unusual when running, climbing stairs or standing up?
  • How long have you found this problem?
  • Is there anyone else in your family have muscle nourishment? If so, which one?
  • Do children have difficulty breathing?

    • Does the child have a problem with attention or memory?

    If Duchenne's muscle dysplasia is suspected, the doctor will specify a number of tests including:

  • Blood test. The doctor will take the child's blood sampling and check the Creatine Kinase, an enzyme that muscles release when they are broken. High CK level is a sign that children can have Duchenne muscle dysplasia.
  • Genetic test. Doctors can also check blood samples to seek changes in the Dystrophin gene that causes Duchenne muscle dysplasia. At the same time, girls in the family can do this test to see if they have a disease gene.
  • Mechanical biopsy. The doctor will take a small piece of the child's muscles and look under a microscope to check whether the dystrophin level is low or not, this is a protein that is missing in people with Duchenne muscular dystrophy.

    • Duchenne muscular dysplasia's disease treatments

    There is no Duchenne muscle disorder but there are drugs and other treatments and treatments that can reduce the symptoms of children, muscle protection and keeping. For healthy hearts and lungs.

  • EtroSen (Exondys 51) has been approved to treat Duchenne muscle dysplasia. This is an injection that helps treat patients with gene mutations that lead to Duchenne muscular dysplasia. The most common side effects of this drug are the problem of balance and vomiting.
  • Corticosteroid Deflazacort (Emflaza) was approved in 2017 to treat Duchenne muscle dysplasia, becoming the first corticosteroid medicine accepted by the FDA to treat this disease. Deflazacort has been shown to help patients maintain muscle strength as well as help them maintain their ability to travel. Common side effects include puffiness, increased appetite and weight gain.

    • Some blood pressure drugs can help protect against muscle damage in the heart.

    Due Duchenne muscular dysplasia can cause cardiovascular problems, so it is very important that children have to have cardiovascular examination at least every 2 years until the age of 10 and After that 1 year. Girls and women with genes are also at higher risk of heart problems than normal people. They should see a cardiologist in adolescence or the early years of adults to check if there is any problem.

    Children with Duchenne muscles may need surgery to repair the muscles that are shortened, straighten the spine or treat a heart or lung problem.

    Scientists continue to search for new ways to treat Duchenne muscle dysplasia by clinical trials. To test new drugs to see if they are safe and effective.

    Taking care of the child

    is difficult to know that his child has Duchenne's muscle nourishment. Remember that this disease does not mean that children can go to school, play sports and have fun with friends. If parents strictly follow the treatment plan and know what is good for children, it will help children have a more active life.

  • stand and go as much as possible. Standing upright will keep children healthy and straight spine.
  • Eat properly. There is no special diet for children with Duchenne muscle care, but healthy foods can prevent weight problems or help treat constipation. Parents should consult a nutritionist to ensure children eat balanced nutrients and have enough calories every day.
  • exercise and flexible flexibility can keep the baby healthy and joints feel better. Physiotherapy technician can teach children how to exercise safely without too much.

    • See also:

  • Signs of cardiovascular examination
  • Screening and diagnosis of genetic disorders
  • What is gene? What is genetic disorder?
  • There is Delta muscle atrophy?

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