Genetic Disorder Project Rubric

Myotonic Dystrophy (Steinert Disease)

Hans Steinert (1875-1911), who in 1909 first described myotonic dystrophy (Steinert's disease) as an independent syndrome.Myotonic Dystrophy, Also called Steinert's disease in honor of the Doctor who described this disease in 1909, is the most frequent form of muscular dystrophy in adults. It is observed within all populations and touches all races.Steinert Disease is 20 times more frequent in the Charlevoix/Saguenay-Lac-Saint-Jean region than in any other country in the world. In this region, it is estimated that 1 in 500 people is affected by this disease.

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The Diagnosis Of This Disease

Doctors with experience in neuromuscular disorders often find it easy to diagnose type 1 myotonic muscular dystrophy (MMD1). Sometimes, just by looking at a person, asking a few questions and examining him or her, they're well on the way to suspecting MMD1. For instance, teenagers and adults with MMD1 (the most common type) usually have a characteristic long face with hollow temples, and males often have early balding.Many people with MMD1 tell the doctor about recurring abdominal pain, constipation or obstetrical complications. Many also report that their parents had muscle problems.

Sometimes, an eye doctor will notice the particular kind of cataract found in MMD and suspect the disease, referring the patient to a neurologist. Cataracts are common in both MMD1 and MMD2, often occurring by middle age.

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Is Myotonic Dystrophy Inherited?

Both Type 1 and Type 2 myotonic dystrophy are inherited in families in an autosomal dominant pattern. In autosomal dominant inheritance, having one copy of the altered (mutated) gene in each cell will cause the disorder. Usually a person who has myotonic dystrophy also has a one parent who has myotonic dystrophy.

In families that have myotonic dystrophy, the altered gene is passed down from one generation to the next. The disorder may begin earlier in life and signs and symptoms become more severe. This is called anticipation. In Type 1 myotonic dystrophy, anticipation happens because there is an increase in the length of the unstable region in the DMPK gene (expansion). The cause of anticipation seen in families who have Type 2 myotonic dystrophy is not yet known.

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Symptoms Of Disorder

  • Muscle Stiffness
  • Progressive Muscle Wasting
  • Progressive weakness
  • Prolonged Muscles Tensing
  • Slow Walking
  • Slow Talking
  • Slow Swallowing
  • cataracts
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Effects On Myotonic Dystrophy

Research suggests that, in MMD1, there may be abnormalities in the parts of the brain that determine the rhythm of sleeping and waking, making excessive daytime sleepiness a barrier to full participation in work, school or social life for many adults with the disorder. In some people, there is a kind of overall "apathy" that may be due to changes in the brain related to MMD1.
Most of the internal organs in the body are hollow tubes (such as the intestines) or sacs (such as the stomach). The walls of these tubes and sacs contain involuntary muscles that squeeze the organs and move things (food, liquids, a baby during childbirth and so forth) through them

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Does It Run in the Family?

Myotonic Dystrophy is certainly a disease that runs in families. Both types are inherited in an autosomal dominant pattern, meaning it takes only one flawed gene to cause symptoms of the disease. So, if one parent has the disorder, every child of that person has a 50 percent chance of inheriting the gene that causes it. If either the type 1 (chromosome 19) or the type 2 (chromosome 3) genetic abnormality is passed on, the child almost will certainly develop the disease. MMD1 very often is more severe in the child than in the parent. In MMD2, this increase in severity between generations also occurs, but not as consistently

Medical Management And Treatments

As yet, there’s no specific treatment that “gets at the root” of type 1 or type 2 myotonic muscular dystrophy (MMD1 or MMD2). Treatment is aimed at managing symptoms and minimizing disability.At the most there are no treatment or cures for Myotonic Dystrophy .
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