Our two sons, Nicholas (9) and Elliott (7), were diagnosed in March 2007 with Myotonic Muscular Dystrophy, the most common form of adult muscular dystrophy. MMD onset may also occur in infancy or childhood, resulting in a more severe prognosis.

Elliott and Nicholas

MMD is complex. It is genetic, chronic, and it is multi-systemic. MMD causes a progressive wasting of the muscles in the face, neck, hands and feet and also of the internal organs including the brain, heart, lungs and gastrointestinal system.

The diagnosis is based on counting the number of repeats of a gene, specifically chromosome number 19 .  Both Nicholas and Elliott have a high number of repeats, indicating that the progression of this disease will be faster and more pronounced than most.  At this time there is no treatment or cure.

If one parent has the illness the child has a 50% chance of being affected. Often, the parent is unaware of having MMD due to a later onset of disease symptoms. MMD becomes dramatically more pronounced in subsequent generations.

MMD can be overlooked by physicians, due to its complexity and wide range of symptoms, even within affected members of the same family.

Descriptions of Mild, Classic and Congenital Forms of MMD