What is Myotonic Muscular
|Myotonic Muscular Dystrophy
affects about 40,000 people in the USA and about 750,000 people
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
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.
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.
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