If a person is suffering from stiff joints, is finding it difficult to lift things or to climb stairs or has any unusual symptoms such as weakness in their eye muscles, he or she may have muscular dystrophy (MD), particularly if there is a history of it in the family. There are other conditions that have similar symptoms.
The first thing he or she should do is see a doctor for a diagnosis, as muscular dystrophy does require monitoring and treatment.
How is it Diagnosed?
A doctor can:
• Take a blood test to check for the presence of creatine kinase. This is a protein normally found in muscles but when wasting starts to occur, it leaks into the blood. Everyone has a tiny amount in their blood, but a person with MD will have larger quantities of it. Blood tests can also look at whether there are any mutations in the genes.
• Take a biopsy of a leg or arm muscle. This sample will be checked for various other proteins to help diagnose which kind of MD the person has. Looking at the condition of the muscle can also help determine the type of MD. In some cases, muscle fiber may be missing or the muscle contains fat instead.
• Do an MRI scan or CT scan to show how many muscles in the body are affected. The type and number of affected areas can show what kind of MD the person has.
• Perform a chest X-ray or echocardiogram to show up any fluid around the heart or other cardiac problems that are common in people with MD.
Children and Muscular Dystrophy
If the person concerned is a very young child, there are several signs to look out for. A child may have MD if:
• They fail to walk
• They walk with an unusual gait
• They stand with an unusual posture
• They fall down easily
• They struggle to climb stairs
• Their spine appears to be curved.
If a child has any of these characteristics, the advice of a medical professional should be sought.
Source: NHS Choices, UK.
Joanna is a freelance health writer for The Mother magazine and Suite 101 with a column on infertility, http://infertility.suite101.com/.