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

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

FORM Symptoms Onset Age Lifespan
Mild
50-100 Repeats
Myotonia
Cataracts
Hypersomnia
Balding
Adulthood Normal
Classic
100-1000 Repeats
Myotonia
Cataracts
Balding
Hypersomnia
Reduced fertility
Weakness
Muscle wasting
Digestive problems
Irregular heartbeat
Increased diabetes risk
Often mild mental retardation
Childhood to Adult Shortened
Congenital
1000-4000 Repeats

Severe weakness at birth
Internal organs often affected
Myotonia
Cataracts
Hypersomnia
Balding
Weakness
Reduced fertility
Digestive problems
Muscle wasting
Irregular heartbeat
Increased diabetes risk
Often mild mental retardation
Symptoms present at birth Shortened
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