Description
Duchenne muscular dystrophy (DMD) is an X-linked recessive progressive muscle wasting genetic disorder that affects new-born males. Becker muscular dystrophy (BMD) is the milder form of the disease. DMD and BMD result from mutations / deletions in the dystrophin gene. The milder nature of BMD is probably due to the presence of a truncated partly functional dystrophin as compared to complete absence of dystrophin in DMD. Molecular studies demonstrate that deletion mutations in the dystrophin gene are responsible for around 65% of cases.
Indications
DMD patients characteristically display progressive muscle weakness, which begins in early childhood. However, clinical symptoms are not evident until 3-5 years of age. Initial symptoms include leg weakness, increasing convex curvature of the spine, and a waddle-like gait. DMD patients end up wheelchair bound by the age of 11 or 12 and usually succumb to the disease by the second or third decade of life. BMD is more phenotypically variable and generally follows a less severe course than DMD. At present there is no cure for DMD / BMD, therefore, accurate identi"fication of carrier females in the childbearing age is of utmost importance.
Sample Type, Quantity & Conditions
3 ml EDTA Whole Blood Room Temperature
Special Precautions
Collect blood in an EDTA vacutainer tube and send tube unopened. Avoid heparinised, frozen, haemolysed, or clotted whole blood samples.
Normal Range
Negative
