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What are the symptoms of congenital myotonic dystrophy?
Symptoms in the congenital form of myotonic dystrophy are evident at birth. Affected infants show muscle weakness, respiratory defects, and eventually, mental retardation
What are the effects of myotonic dystrophy?
limitations resulting from myotonic dystrophy can be significant, involving muscle weakness and difficulty lifting items and performing certain routine daily tasks. There are many cases in which affected persons experience mental delays
Can you be a carrier of myotonic dystrophy if you test negative by EMG?
Yes, myotonic dystrophy affects people in multiple ways and can often affect other systems of the body before the skeletal muscles therefore an EMG is no longer a reliable diagnostic tool.
What does diagnosis for myotonic dystrophy entail?
Myotonic dystrophy is diagnosed clinically in individuals that have a specific type of muscle weakness. This is confirmed with molecular genetics testing, where the DMPK is analyzed
Does Myotonic dystrophy have attributed behavior problems?
Myotonic dystrophy does not have attributed behavior problems per se. However, Childhood and adolescent forms of the disease can exhibit cognitive difficulties which can present in a number of different ways such as attention deficit type disorders which could be mislabeled as behavior problems. Your best source of information on Myotonic Dystrophy on the web is the Myotonic Dystrophy Foundation.
What is the treatment for myotonic dystrophy?
Myotonic dystrophy cannot be cured, and no treatment can delay its progression. As of the early 2000s there is no standardized treatment for these disorders because the precise reasons for muscle weakness are not yet fully understood.
What body systems are affected by muscular dystrophy?
The body systems that are affected by muscular dystrophy include the nervous system and the musculoskeletal system. Many organs are also affected by this genetic disorder.
What is the symptoms of myotonic dystrophy?
People who have myotonic dystrophy have progressive muscle wasting and weakness beginning in their 20's or 30's. The muscle wasting and weakness develop in their lower legs, hands, neck and face.
How may myotonic dystrophy be said to be a rare disorder?
Myotonic dystrophy is considered a rare disorder because its prevalence is estimated to be around 1 in 8,000 individuals. It is caused by a genetic mutation and can affect multiple body systems, leading to muscle weakness, myotonia, and other symptoms. Due to its rarity, it may be underdiagnosed or misdiagnosed in some cases.
What is the prognosis for individuals that have the classic form of myotonic dystrophy?
Affected individuals that have the classic form have a more severe prognosis. They have more clinical manifestations and lifespan usually ranges 48-55 years.
What is the role of heredity in myotonic dystrophy?
DM is inherited through autosomal dominant inheritance. This means that equal numbers of males and females are affected. It also means that only one gene in the pair needs to have the mutation in order for a person to be affected.
What is the frequency of myotonic dystrophy in your population?
stated to be 1 in 8000 in the USA, a few places have a higher incidence rate
