Here is a recent study of issues with congenital and childhood myotonic dystrophy. It seems pretty comprehensive and has a lot of good information. The summary is below followed by the link to the full study. The study does not also provide information on the link to autism or autism spectrum disorders that many of the children have. The study does not go into depth on the adult form of the disease that follows as the children age and go through puberty. But a good basic review.
“In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognized yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counseling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation,as is assisting with family planning and undertakingcascade testing to instigate health surveillance in affected family members.”
BELOW click on hyperlink for full study in PDF form.
A recent study gave more information on how Myotonic Dystrophy affects the brain. This information is important as treatments are being developed and there are many questions on whether this will help with brain related issues. The study below gives information on white matter and gray matter in the brain that were obtained with MRI studies. The Gray matter seems to give some indication of how a patient may be affected with The various symptoms of myotonic dystrophy. Here is a summary of the study. Click Below to get the full study in PDF
A new case study has found that some patients with short DM repeats less than 100 who may not have symptoms of the disease may in fact be troubled with cardiac issues. Here is a full text of the study’s conclusions
This case shows that MD1 with <100 CTG repeats may
exclusively manifest cardiologically, that family screening
for MD1 is important even in asymptomatic patients, and
that MD1 may initially manifest with atypical clinical features.
Muscle biopsy in MD1 may be misleading and may
indicate glycogenosis. Close cardiac follow-up is important
if MD1 manifests cardiologically to prevent syncope or SCD.
There will be a family day free of charge at the IDMC10 conference in Paris this year. Every two years hundreds of researchers gather to discuss the latest and greatest in the field. This year the meeting is June 8-12th in Paris France.At the end of the conference there is generally a patient day where new information about the disease is released to the public in a less scientific way. Here is an outline of the family Program
The Muscular Dystrophy Coordinating Committee (MDCC)
MDCC is a government mandate to try and coordinate the research establish to coordinate activities to find cure, treatment and handling daily living of People with Muscular dystrophy : The Muscular Dystrophy Community Assistance, Research, and Education Amendments of 2001 (MD-CARE Act; P.L. 107-84) authorized the establishment of the MDCC, with members appointed by the Secretary of the Department of Health and Human Services, in order to coordinate activities across the National Institutes of Health (NIH) and with other Federal health programs and activities relevant to the various forms of muscular dystrophy. The MDCC was subsequently re-authorized in the MD-CARE Acts of 2008 and 2014, with changes in its composition with each re-authorization.