Researchers Race for Myotonic Dystrophy Cure

Race for the Cure for Myotonic Dystrophy

Race for the Cure for Myotonic Dystrophy

Myotonic Dystrophy may be the first of the muscular Dystrophy to have a definitive cure established. In the last few years researchers have isolated the issue they believe causes myotonic dystrophy. In the last couple of years therapies that have targeted this problem have reversed the disease in cell and animal models. This has set up a race now for researchers to refine the therapeutic compounds and begin with human trials to see if the animal to human therapeutic transfer works as it is believed to. Thus, this would lead to the first potential cure for a type of muscular dystrophy.

The Myotonic Dystrophy Foundation (MDF) in Menlo Park, CA  has taken a lead in assisting researchers with moving forward with this disease elimination process with funding and assistance in establishing a patient registry. The MDF was the early funder of a new Research Collaborative effort lead by Charles Thorton out of the University of Rochester. The foundation has also  been instrumental in educating patients and physicians in this complex and slowly progressing disease that results in premature death. A patient conference is planned for early November of 2013 in Houston, TX

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Donate Tissue and Body to Science Myotonic Dystrophy

Many people have asked if they can help with myotonic dystrophy research. I recently became aware of a program where at death you can donate your body to science and they will use tissue samples etc. to further research into myotonic dystrophy. The researchers are always in need of tissue samples and some of these can only be obtained after death.

Although the death of a loved one is devastating the gift of life in research can live on and others can benefit from the donation that is made. Think about this and see if it fits your needs and desires. IF desired fill out the pages and leave with your will.

The Paul and Sheila Wellstone Muscular Dystrophy center in Minneaplois, MN is coordinating this. The hot lines to call are (612)626-0822 and (612) 899-5964 Karac001@umn.edu

Please click here for the forms that are needed.

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Myotonic Dystrophy Support Group Conference London 2013

The myotonic Dystrophy Support group in England has announced the date of the 2013 conference near London in 2013. I attended this conference a few years back and it is excellent!  The date is June 8, 2013 Here are some of the details:

Myotonic Dystrophy Support Group Annual Conference

8 Jun 2013

Swindon, UK

The 2013 Myotonic Dystrophy Support Group’s Annual Conference will take place on 8th June 2013 in Swindon, UK.

Further details will appear here in due course alternatively visit the MDSG website for the latest details.

 

 

 

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OralFacial Dysfunction with Myotonic Dystrophy

Although Oral facial weakness is commonly documented in myotonic dystrophy in congenital and juvenile forms the consequence and outcomes in Children had not been well documented. A study from 1997 gives additional information on this subject. 56 Children and adolescents from Sweden were survey and evaluated 18 with severe congenital form, 18 with moderate congenital form, 18 with childhood juvenile form and 2 with classical form
Here is part of this information:

Ability to understand Speech
This was moderately or severely reduced in 30 or the 56 patients studied
Speech intelligibility reduced   60%
No Speech                               9.3%

Muscle Function in Speech
Moderate or severe reduction in strength
Lip motility             76%
Tongue Motility      52.2%
Lip Force              69.2%
These issues  cause probelms with production of bilabial and dental constants. Bilabial constants use both lips. Dental constants are ones that use the tongue against the roof of the mouth.

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Eating and drinking Difficulties
Difficulty in getting food off spoon with lips         20.4%
Takes long time to swallow bites of food            20.4%
Food and Liquids leak out of corners of mouth 16.7%
Food gets stuck in gums                                   14.8%
Swallows large pieces of Food w/o chewing      9.3%
Chokes on food                                                    7.4%
Coughs when receiving liquids                            7.4%
Presses tongue forward when swallowing        7.4%
Food or liquid go up through nose                      5.6%

Facial Expression
Mildly affected             9 Children
Moderately affected    25 children
Severely affected      25 children
49 had an open mouth at rest
37 had wide open mouth at rest

Speech
14 Mildly reduced speech
21 Moderately reduced Speech
9 severely reduced speech
5 No Speech <10 words
Congenital children had more severe reduced intelligibility

Click below for the full scientific study

OralFacial Dysfunction in Children with Myotonic Dystrophy
Developmental Medicine and Child Neurology 2007, 49 18-22

Children with DM1 should therefore be referred to a speech and language pathologist early to get support for optimal development of feeding and communications.

 

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Myotonic Dystrophy – A preventable disease – Why HealthCare Reform is Needed

Christopher M is a happy contented 22-year-old man. He functions at a 2-year-old level, requires 24/7 supervision, has multiple medical problems, Brain, lungs, GI tract, Heart, Muscles. His medical costs to date are over $2 million dollars and education and other support over $1 million. Christopher M has congenital  myotonic dystrophy a neuromuscular disease with no cure, no treatment except symptom relief.  This congenital form is caused by the conception and birth or a child to a mother who has the adult form of the disease. Whats has even more impact is that each generation with myotonic dystrophy the children get sicker and have more and more severe symptoms.

Both the these diseases DM1 and the congenital form of the disease (CMD) can be prevented by using Pre-Implant Genetics (PGD) along with in vitro fertilization  (IVF) for those who wish to have a health child. Myotonic Dystrophy is preventable in most cases, except where religious belief would interfere with IVF.

 

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