Duchenne muscular dystrophy (DMD) is a debilitating and incurable childhood disease, usually affecting boys. It is marked by rapidly progressing muscle weakness beginning between ages 2 and 6. The muscle weakness and wasting conditions lead to dependence on a wheelchair by around age 13.
Respiratory failure begins in the late teen years and many DMD boys die from the disease around age 25, usually from respiratory failure. A less aggressive form of this same muscular dystrophy is known as Becker muscular dystrophy. (BMD)
According to PubMed Health, DMD is caused by a defective gene for dystrophin. The defective gene causes the absence of the dystrophin muscle protein. Researchers also know that calcium molecules accumulate in the muscles cells, causing muscle cell death in those with DMD.
This disease is an inherited disorder, generally passed by a mother, who is a carrier of the disease, to her son. PubMed reports about 1 in every 3,600 boys develop this muscular dystrophy. Since this is an inherited disorder, the biggest risk is a family history of the disease.
The Muscular Dystrophy Association says parents of children with early DMD may notice enlarged calf muscles, known as pseudohypertophy. These toddlers may appear clumsy, fall easily, and have trouble climbing stairs or getting up off the floor. Older boys, to compensate for the loss of balance, may walk on the balls of their feet, sticking out their bellies while pulling shoulders back. Parents may also notice their son has difficulty raising his arms.
MDA says diagnosis begins with both patient and family history, which are vitally important even before diagnostic tests occur. MDA recommends both genetic testing and muscle biopsy since other diseases have some of the same symptoms as both DMD and BMD.
Any family learning that a son or sons has/ have muscular dystrophy will be filled with sorrow. The testimonies on the MDA website gently remind parents that a child’s diagnosis is not “your fault.”
The disease will progress over many years, so families have time to adjust to the sad news.