About DMD

Duchene Muscular Dystrophy (DMD) is progressive conditions diagnosed in childhood. It causes all the muscles in the body to gradually weaken. There is currently no cure of Duchene, but there is hope

• What is Duchenne Muscular Dystrophy ?

DMD is a genetic disease that causes muscle weakness and wasting. It is the most common and severe form of muscular dystrophy.

It is caused by a fault, known as a mutation, on the dystrophin gene. Dystrophin is a protein that protects muscles; without it, muscles are easily damaged, and their strength and function is weakened. It eventually affects all the muscles in the body, including the heart and lungs.

DMD almost always affects boys. It is typically diagnosed in childhood between the age of three and six.

• Signs and symptoms of Duchenne

In early stages, DMD affects the limb muscles, with the legs affected before the arms. Children with DMD are often late walkers. Muscle weakness is most noticeable when children run or get up from the floor.

• Early symptoms can also include

Delay in the ability to sit and stand independently

Large calf muscles (known as pseudo hypertrophy)

Trouble running and jumping

Unusual gait when walking

Using the Gower’s to get off the floor(using their hands and arms to “walk” up their own body from a Manouevre squatting position.

• How is Duchenne diagnosed ?

If you are concerned that your child has the signs and symptoms of DMD, visit your doctor and ask for the following tests to be carried out.

Blood test for DMD

If you suspect your child has DMD, a blood test can measure the amount of a substance called creatine kinase (CK) in their blood. Children with DMD always have a very high level of CK (10-100 times above normal).

CK is an enzyme found in muscle cells. If muscles are damaged, the muscle cells are broken open and their contents find their way to the bloodstream. High levels can be the result of a muscle injury, or of a chronic condition, such as DMD.

If the CK level is high, you will need further tests to see if this is because of DMD or another condition.

Genetic test for DMD

The second test in diagnosing DMD is a genetic test. This is taken through a blood sample. This test looks for either large changes in the gene or looks at the sequencing of the gene.

Together, these two tests can detect DMD in about 95% of patients.

• Muscle Biopsy for DMD

A third test is required for a small number of patients. They have to have a muscle biopsy to confirm the diagnosis.

This involves taking a small piece of muscle under local anesthetic and looking at muscle fibers under a microscope. This is the only way to tell the level of dystrophin in the muscle for certain.