The disease can affect at least one in 8,000 people across the United States, or approximately 40,000 people in all.
Chuck Hunt, former Athens Academy science teacher and the Muscle Dystrophy Foundaton’s planning coordinator for Georgia, thinks that even though myotonic dystrophy, a form of muscular dystrophy, is rare, it may be more common than that at perhaps one in 3000 people.
Myotonic dystrophy is affecting families right here in Oconee County, four of whom Hunt knows are dealing with the disease.
This form of muscular dystrophy affects adults, and it is the most common type of muscular dystrophy for adults to have.
The disease can present itself via seemingly unconnected symptoms ranging from progressive muscle weakness, muscle atrophy and heart problems to cataracts, loss of executive function in brain and infertility from hormone changes.
Hunt described myotonic dystrophy as a hereditary genetic disorder that can worsen with each subsequent generation of a family. Severity of the disease per generation depends on the amounts of repeats of mutated, damaged DNA.
“There’s not many diseases that could happen from day 1 (birth) to (age) 60-something,” Hunt said, “so it’s a matter of when the DNA damage or the DNA repeats start to add up, that you finally become symptomatic.”
The disease is autosomal dominant, so either a boy or girl can have it, because passing on the disease is not dependent on a sex chromosome. It is not dependent on ethnicity, either, said Hunt.
There is a 50-50 chance that if someone carries the gene, they will pass it to their offspring.
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