How is duchenne muscular dystrophy diagnosed

However, over time, the delays seen in children with Duchenne become more worrisome. The diagnostic process often involves a series of steps to confirm Duchenne.

Getting a formal diagnosis and understanding your child's specific mutation is a critical step in determining a path for care, whether that is managing the disease or participating in clinical trials for possible treatments.

Only a doctor can accurately diagnose a child with Duchenne. If your family's pediatrician becomes concerned that your child needs further testing, the first step may be a referral to a specialist — typically a pediatric neurologist or neuromuscular expert. These specialists will work to identify the cause of your child's symptoms, and may recommend a variety of tests.

Common questions about genetic testing. Receiving the news that your child has been diagnosed with Duchenne is always difficult. There will likely be a period of sadness and adjustment as you learn more about the effect the disease can have on your child and your family.

However, families living with Duchenne have built a strong and supportive community that is willing to help. It is important and often empowering for families to educate themselves on the diagnosis. Speak to your child's doctor, and perhaps a genetic counselor, who can help you understand what this diagnosis means for your family.

Then, if you feel ready, reach out to one of the many organizations for families who are living with Duchenne. There are many resources that can help you navigate through the stages, and empower you with the tools and information you need to prepare for what's ahead.

You may also wish to visit a specialist clinic or care center with experience in treating Duchenne. The two main groups in the United States are:. Our goal is to make Duchenne. By completing a 10 minute survey, you can help us learn what topics interest you most. Type in your search and hit return. DMD is a genetic disease. Children can either inherit DMD from a parent, or it can be the result of a random genetic mutation.

DMD occurs when there is a fault on the dystrophin gene. This is the gene that the body needs to produce a protein called dystrophin, which is essential for maintaining muscle strength and function.

The dystrophin gene is the largest gene in the body. It is made up of 79 active pieces of DNA, called exons. All 79 of these exons are joined together in a sequence. This sequence communicates the information that the body needs to make the dystrophin protein. There are three errors, called mutations , that can prevent any or enough dystrophin being made by the body:.

Potential treatments that tackle the root causes of Duchenne include gene therapy. Research is currently underway to investigate how to create a working dystrophin gene and place it in the body.

These chromosomes are inherited from our father and mother. Females have two X chromosomes one X from their mother and one X from their father. Males have one X chromosome from their mother and one Y chromosome from their father.

The dystrophin gene is only located on X chromosomes. Duchenne is much more common in males because they only have one X chromosome. In two thirds of cases, the faulty dystrophin gene is passed from the mother to the child. In one third of cases, a spontaneous mutation happens at the beginning of the pregnancy.

No one is to blame for either inherited genes or spontaneous mutations. Genes are very complicated and sometimes they go wrong. DMD is a progressive disease which eventually affects all the muscles in the body, including the heart and breathing muscles. For this reason, it is a life-limiting condition.

Currently, people with DMD live into their 20s and 30s on average , with some living into their 40s and 50s. It is difficult to say what the life expectancy of a child who has recently been diagnosed with DMD will be, as medical science is progressing. DMD is very rare in females , but it can happen. It is estimated that 1 in 50 million girls are born with DMD. Females can only develop DMD if they have a fault on their dystrophin genes on both their X chromosomes.

This can only happen if:. This is not the same as having DMD, but these girls and women will produce reduced amounts of dystrophin. Manifesting carrier symptoms can include:. Female carriers also have an increased risk of heart problems. If you have been diagnosed as a female carrier, you should have your heart checked every 3 to 5 years.

If a child starts walking later than is typical, this merits investigation for Duchenne, even if the child technically is within the normal range, Rao emphasizes. The most common initial blood test to look for Duchenne — when a child shows early physical signs of the condition — measures an enzyme called creatine kinase CK , which is released into the blood when muscles in the body break down. Sometimes, though, the process of diagnosing Duchenne happens not because of physical signs and deliberate testing, but instead when another abnormality is found in routine blood tests.

In some cases, Rao says, routine blood tests find high levels of certain liver enzymes. Some children with undiagnosed Duchenne undergo unnecessary liver biopsies when their liver enzymes are found to be high, an outcome that can easily be avoided, says Rao, by testing for CK.

If both are found to be high, doctors can order another test for something called gamma-glutamyl transferase GGT. A physical examination and CK test are usually enough to determine that a child has Duchenne or some other form of muscular dystrophy , says Ramos-Platt. A genetic test for Duchenne looks for an abnormality, or mutation, in the DNA of the gene responsible for the protein dystrophin called the DMD gene — causing this protein not to be produced.

It typically requires only a standard blood draw, since in someone with Duchenne, this mutation will be present in all cells, not just muscle cells. A number of different specific mutations on the DMD gene have been identified as causing Duchenne, and genetic analysis will generally focus on the most common mutations first.

This means that the technician performing the test will first look for deletions or duplications of long stretches of DNA. While most mutations on the DMD gene that cause muscular dystrophy are associated with Duchenne, some cause Becker muscular dystrophy, a generally less severe condition in which some functional dystrophin is produced in muscle cells.

Genetic testing can almost always identify which form of muscular dystrophy a given mutation causes. Before genetic testing became available, the standard way to diagnose Duchenne and other forms of muscular dystrophy was to perform a muscle biopsy. This procedure involves removing a small amount of muscle tissue from an area of the body and looking at it under a microscope.

Pathologists apply special stains to tissue samples to detect the presence of specific protein markers. Aside from being used in rare cases to help diagnose Duchenne, muscle biopsies may also be used in clinical trials of Duchenne treatments to look for changes in muscle cells.