Myotonic Dystrophy Symptoms

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Myotonic Dystrophy

Myotonic Dystrophy Symptoms: People with Myotonic Dystrophy  may exhibit more or more of the following symptoms which many vary in how severe they are.  Some people will have many of the symptoms others much fewer. There is a generally relationship between the number of repeats of the CTG on Chromosome 19  and the severity of the disease. There are two symtomology paths with DM. One is the standard or adult onset path. The other is the Juvenile or congenital path. See the Congenital and Juvenile sections for this information for the standard Myotonic Dystrophy Type 1

Polyhydramnios Image

Polyhydraminos (Excess amniotic fluid during pregnancy)
This symptom is present during pregnancy. Usually amniotic fluid is swallowed by the baby and expelled through the umbilical cord. This does not occur and fluid builds up in the mother and can trigger premature birth. Careful monitoring by a doctor is necessary.
Constipation

Constipation
The bowel and gastrointestinal tract are affected by the disease. This causes constipation and excessive time on the toilet. PAtients also report DIARRHEA Many patinets has have abnormalities of the bladder system as well

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Myotonia Drugs to Help prevent Muscle Contractures and Seizures

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Here is some information about a drug that may help with muscle contractures and seizures. My son recently had several episodes where he would lose balance and sink to the ground, not really tripping but losing strength and we suspected that he may be having myotonia contractures. What this is simply is that muscles in his legs are seizing up and not moving so that the body can not remain upright. We are looking at some of these drugs to see if they may be helpful. The one that has been mentioned most is mexiletine. There are a couple others but Dr. Moxley at the University of Rochester has studies this drug more than most. His experience with Myotonic Dystrophy is extensive.

The study did not measure outcomes. That is they studies it and saw it reduced ontraction time in patients muscles. They did not look to see if it made a difference in their everyday lives such as walking or opening cans. So no real evidence it helps outcomes, but it seems to work from the researchers standpoint.

The study here was presented at one of the IDMC meetings. Will be giving this drug a try if the doctors agree it may help and not affect any of his cardiac issues, like level 1 heart block.

 

Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1(LOE Classification)

This article has been cited by other articles in PMC.

Abstract

Objective:

To determine if mexiletine is safe and effective in reducing myotonia in myotonic dystrophy type 1 (DM1).

Background:

Myotonia is an early, prominent symptom in DM1 and contributes to decreased dexterity, gait instability, difficulty with speech/swallowing, and muscle pain. A few preliminary trials have suggested that the antiarrhythmic drug mexiletine is useful, symptomatic treatment for nondystrophic myotonic disorders and DM1.

Methods:

We performed 2 randomized, double-blind, placebo-controlled crossover trials, each involving 20 ambulatory DM1 participants with grip or percussion myotonia on examination. The initial trial compared 150 mg of mexiletine 3 times daily to placebo, and the second trial compared 200 mg of mexiletine 3 times daily to placebo. Treatment periods were 7 weeks in duration separated by a 4- to 8-week washout period. The primary measure of myotonia was time for isometric grip force to relax from 90% to 5% of peak force after a 3-second maximum grip contraction. EKG measurements and adverse events were monitored in both trials.

Results:

There was a significant reduction in grip relaxation time with both 150 and 200 mg dosages of mexiletine. Treatment with mexiletine at either dosage was not associated with any serious adverse events, or with prolongation of the PR or QTc intervals or of QRS duration. Mild adverse events were observed with both placebo and mexiletine treatment.

Conclusions:

Mexiletine at dosages of 150 and 200 mg 3 times daily is effective, safe, and well-tolerated over 7 weeks as an antimyotonia treatment in DM1.

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Diagnosis and Treatment

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I came across this very interesting article from the UK about the diagnosis and treatment of Myotonic Dystrophy DM. This is a more technical article on the disease and may be good for your doctor to review. Management of Myotonic Dystrophy 2010. This article is from 2010. For the most current medical information on Myotonic dystrophy visit the MDF website. This article I think gives a good overview of the subject.

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Help From MDA Clinics

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Many people affected with Myotonic Dystrophy get help from the MDA the Muscular Dystrophy Association. They have clinics all around the United States which are accessible to all even those without funds. They can also help with wheelchairs and other resources. They run summer camps for kids which is awesome as well. Here is a video that  a couple that is affected with myotonic dystrophy has made about their experience with MDA

 

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Myotonic Dystrophy Fundraiser – MDA

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A Golf Fundraiser is being held today Sept 17 2012 for both Duchenne and Myotonic Muscular Dystrophy. The tournament is in Santa Ana, CA and begins at noon

Bade and Fisher families, who have been friends for over 70 years. The inspiration for the Bade Memorial Golf Tournament began in honor of Charlie Bade. Charlie,a golf enthusiast, was heartbroken when his dear friends’ grandson, Alex Fisher, was diagnosed with Duchenne muscular dystrophy and later his son, Chris,and grandchildren were diagnosed with Myotonic muscular dystrophy(a disease they inherited from Charlie). By
the second year of the tournament, Chris had passed away. Since his passing, the tournament has come to mean even more. It is the inspiration for two families and spans three generations. Today the tournament continues to celebrate the lives of Charlie and Chris, additionally honoring Alex Fisher and Chris’ children, Scott, Nick and Christine.

Myotonic Fundraiser -Golf Santa Ana CA Sept 17, 2012

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