Agenda Summary
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Recognizing the seriousness of myotonic dystrophy and expressing support for the designation of September 15, as ‘‘International Myotonic Dystrophy Awareness Day’’.
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Official Text
WHEREAS: Myotonic dystrophy is a rare, multi-systemic, inherited disease that affects approximately in 2,100 individuals and more than 150,000 individuals in the United States; and
WHEREAS: 1 in 8,000 individuals are living with myotonic dystrophy globally, yet thousands of individuals do not know they have the disease and are in need of care; and
WHEREAS: Myotonic dystrophy is the most common form of adult-onset muscular dystrophy, and the symptoms of the disease become more severe with each generation; and
WHEREAS: The disease is caused by a mutation in the DMPK gene, resulting in myotonic dystrophy type 1, or the CNBP gene, resulting in myotonic dystrophy type 2; and
WHEREAS: Those mutations prevent those genes from functioning properly, impacting multiple body systems; and
WHEREAS: Those mutations are autosomal dominant mutations, in which one copy of the altered gene is sufficient to cause the disorder, and affected individuals have a 50 percent chance of passing on the mutated gene to their children; and
WHEREAS: Through this inherited genetic anomaly, individuals with myotonic dystrophy experience varied and complex symptoms, ranging from skeletal muscle problems early cataracts, and excessive daytime sleepiness to heart, breathing, digestive, hormonal, speech, swallowing, diabetic, immune, vision, and cognitive difficulties; and
WHEREAS: Myotonic dystrophy is a highly variable and complicated disorder, and the younger an individual is when symptoms first appear, the more severe symptoms are likely to be; and
WHEREAS: Misdiagnoses have persisted for decades, and delays in diagnosing myotonic dystrophy are common; and
WHEREAS: There are currently no treatments approved by the Food and Drug Administration for myotonic dystrophy; and
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