A Cure for Myotonic Dystrophy is it on the Horizon?

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This tremendously complex disease that is myotonic dystrophy may be narrowing for a cure in the next few years. The root cause is known. There are a number of models or ways that the disease can be fixed. One approach that of an antisense nucleotide has been tried on a mouse that had myotonic dystrophy and it worked. (Isis pharmaceuticals). Tomorrow at the meeting below Dr. Richard Moxley one of the foremost researchers into myotonic dystrophy will be speaking about “Curing Myotonic Dystrophy”. It’s a step in the right direction and an indication that there might possibly be a cure coming in the future…

2012 MSG Scientific Annual Meeting
Clinical Trial Design and Biomarkers in Neuromuscular Disease
Beaver Hollow Conference Center, Java Center, NY September 27 – 29, 2012

8:30 PM Keynote Speaker: Richard Moxley (University of Rochester)
Curing Myotonic Dystrophy
Fireside Room

To anyone affected with this disease, Hope is there and perhaps not too far out!

Richard

 

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The Quadruplet Whammy – Congenital Myotonic Dystrophy

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Congenital Myotonic Dystrophy is what I Describe as the Quadruple Whammy. It hits you hard and just keeps hitting you some more. Sometimes more and sometimes less but it just keeps kicking. Having now dealt with this disease for over 23 years I wonder often why its so so hard sometimes…………Here’s Why

1. Congenital Myotonic Dystrophy. Its present at birth and causes all kinds of issues like respiratory distress, ventilators, premature birth, feeding and swallowing issues, floppiness, etc. And of course it causes developmental delay Okay, so you get hit hard swallow the dreams make up some new ones. maybe its not so bad……… That’s Whammy One

2. In the course of the disease,  many of the kids will develop symptoms of juvenile Myotonic Dystrophy such as autism spectrum disorder,  ADHD, speech issues, socialization issues. Oh boy, now more adjustments throw dream two away…. Make up a new one that fits better. Handle all the issues everyday…..Whammy Two

3. At or near puberty the kids will begin to develop the symptoms of standard myotonic dystrophy such as Cardiac conduction problems, myotonia, muscle weakness in head and legs and arms. Here stuff really happens, serious medical issues again. Chance of sudden death from cardiac failure. Chance of death from pneumonia. Throw out all the dreams and live day to day. . Whammy three.

4. Of course in the midst of all of this the mother has the disease and it is slowly progressive and others in the family have this as well. Many of the moms become involved with symptoms….. to where they can not adequately take care of their baby/child/adult. Whammy four.

Quadruple Whammy! Now the good news is that Isis Pharmaceuticals (Carlsbad, CA)  is working on a drug that will help many of the symptoms of the disease. Only 5-6 years away if all goes well. That will take care of all the whammy’s!!

Richard

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Congenital Myotonic Dystrophy

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Congenital Myotonic Dystrophy is present at the birth of the Infant. A mother may notice excessive amniotic fluid or polyhydraminos. The mother may also notice less fetal movements than is normal.  The baby is born sometimes prematurely. It is a disease that will cause multiple symptoms in the baby. The link to the baby is the mother in almost all cases. For instance, out of 118 cases only 2 cases had any incident that the father was the carrier. However, Paternal transmission (by the father) is documented. (Paternal Transmission of Congenital Myotonic Dystrophy J Med Genet 1994;31518-520)  It seems as though the mother somehow causes the disease in the severe form. Some researchers postulate that there does not seem to be a genetic reason for the severe problems that may be caused by the disorder. It may be that the Myotonic Dystrophy in the mother somehow causes the severe congenital form.
In Sweden there is identified two types of congenital myotonic dystrophy, severe and moderate. In the severe type there is a life threatening condition at birth. This seems to be associated with male children more than female. With the moderate type of congenital myotonic dystrophy there is no life threatening condition birth. This information is contained in several studies as well as confirmed by by Ekstrom at a recent conference. The severe type will generally have more symptoms and more severe symptoms of the disease.
Congential as well as juvenile and adolenscent myotonic dystrophy are hard to diagnosis and identify. Part of the reason for this is that the medical profession does not recongnize this disease as a separate and distinct disease. They symtoms of congenital myotonic dystrophy are separate and distinct from mytonic dystrophy type 1. Thus, its hard for parents to identify the disease that their child may have. For example mental retardation and autism spectrum disorder are not symtoms of myotonic dystrophy. But they are symtoms of the congential or juvenile forms of the disease.

effects of Congenital Myotonic Dystrophy

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Heart Review Myotonic Dystrophy

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Editors note: This article was written in 2002 approximately 10 years ago. Its a review but more current information must be reviewed as well

MYOTONIC DYSTROPHY AND THE HEART

This article has been cited by other articles in PMC.

Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. DM is a multisystem disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, and cardiac conduction abnormalities. Classical DM (first described by Steinert and called Steinert’s disease or DM1) has been identified as an autosomal dominant disorder associated with the presence of an abnormal expansion of a CTG trinucleotide repeat on chromosome 19q13.3 (the DM 1 locus). A similar but less common disorder was later described as proximal myotonic myopathy, caused by alterations on a different gene on chromosome 3q21 (the DM2 locus). This article will mainly focus on DM1. It will provide an insight into the epidemiology and genetic alterations of the disease and provide up-to-date information on postmortem and clinical findings and on diagnostic and therapeutic options in patients presenting cardiac involvement.

EPIDEMIOLOGY AND CLASSIFICATION OF DM1

The incidence of DM1 is estimated to be 1 in 8000 births and its worldwide prevalence ranges from 2.1 to 14.3/100 000 inhabitants.1 Based on the age of onset and on its clinical features, DM1 can be divided into three forms: congenital, classical, and minimal, which may occur in the same kindred.

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Pacemakers extend life of some Myotonic Dystrophy Patients

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An invasive strategy, based on prophylactic permanent pacing, is associated with longer survival for patients with myotonic dystrophy type 1.

Karim Wahbi, MD, of Pitié-Saltpêtière Hospital in Paris, and colleagues conducted a retrospective study of 914 consecutive patients (>18 years) with genetically confirmed myotonic dystrophy type 1 who were admitted to the hospital from 2000–2009. Of the 486 patients whose electrocardiogram showed a PR interval >200 ms or a QRS duration >100ms, or both, 70.2% underwent an invasive treatment strategy based on systematic electrophysiological studies and prophylactic permanent pacing and 29.8% underwent a noninvasive strategy.

During a median of 7.4 years of follow-up, the researchers found that 50 patients in the invasive strategy group and 30 in the noninvasive strategy group died (hazard ratio [HR], 0.74; P=0.19), corresponding to an overall nine-year survival of 74.4%. Adjusting for between-group differences in baseline characteristics, the invasive strategy was associated with significantly longer survival, with adjusted HRs ranging from 0.47–0.61. The survival difference was mainly due to a reduced incidence of sudden death, which occurred in 10 patients in the invasive strategy group vs. 16 patients in the noninvasive strategy group (HRs ranging from 0.24–0.28).

“Among patients with myotonic dystrophy type 1, an invasive strategy was associated with a higher rate of nine-year survival than a noninvasive strategy,” the authors write.

One author disclosed financial ties to the medical device industry; one author disclosed financial ties to Genzyme.

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