Cuyamycin Molecule looks promising for Myotonic Dystrophy Treatment

A new study published shows that a small molecule (Potential new treatment) disrupted the long CTG repeats but left short repeats mostly alone.This was tested in mice that had myotonic dystrophy and seemed to work well.  Here is a piece form the journal about the impact of this study

                                                     Significance
Development of small-molecule lead medicines that potently and specifically modulate RNA function is challenging. We designed a small molecule that cleaves r(CUG)exp, the RNA repeat expansion that causes myotonic dystrophy type 1. In cells and in an animal model, the small-molecule cleaver specifically recognizes the 3-dimensional structure of r(CUG)exp, cleaving it more selectively among transcripts containing short, nonpathogenic r(CUG) repeats than an oligonucleotide that recognizes RNA sequence via Watson-Crick base pairing. The small molecule broadly relieves disease-associated phenotype in a mouse model. Thus, small molecules that recognize and cleave RNA structures should be

Cugamycin-Mouse-Model

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Care recommendations for patients with myotonic dystrophy

Published in 2018 is a consensus based approach for the myotonic dystrophy patient community. This gives general guidelines on how to approach, test and intervene in patients lives to achieve the most optimum outcomes.

Care-recommendations-for-adulats-with-Myotonic-Dystrophy

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Causes of Death Myotonic Dystrophy – Survival to age 65 lower

This is an older study from 1998 but many folks ask about the longevity with this disease. How long will I live with myotonic dystrophy?

Age and causes of death in adult-onset myotonic dystrophy.

Brain

(1998) 121 (8): 1557-1563. doi: 10.1093/brain/121.8.1557

  1. C E de Die-Smulders,
  2. C J Höweler,
  3. C Thijs,
  4. J F Mirandolle,
  5. H B Anten,
  6. H J Smeets,
  7. K E Chandler and
  8. J P Geraedts

+ Author Affiliations


  1. Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands. christine.dedie@gen.unimaas.nl

Summary

Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a variety of systemic complications. Long term follow-up is difficult because of the slow progression. The objective of this study was to determine survival, age at death and causes of death in patients with the adult-onset type of myotonic dystrophy. A register of myotonic dystrophy patients was set up in Southern Limburg (the Netherlands), using data longitudinally collected over a 47-year period (1950-97). Survival for 180 patients (from the register) with adult-onset type myotonic dystrophy was established by the Kaplan-Meier method. The median survival was 60 years for males and 59 years for females. Survival of the patients was also estimated from the age of 15 years to the ages of 25, 45 and 65 years and compared with the expected survival of age- and sex-matched birth cohorts from the normal Dutch population. The observed survival to the ages of 25, 45 and 65 years was 99%, 88% and 18% compared with an expected survival of 99%, 95% and 78%, respectively. Thus, survival to the age of 65 in patients with adult-onset myotonic dystrophy is markedly reduced. A weak positive correlation between the CTG repeat length and younger age at death was found in the 13 patients studied (r = 0.50, P = 0.08). The cause of death could be determined in 70 of the 83 deceased patients. Pneumonia and cardiac arrhythmias were the most frequent primary causes of death, each occurring in approximately 30%, which was far more than expected for the general Dutch population. In addition, we assessed mobility in the years before death in a subgroup of 18 patients, as a reflection of the long-term physical handicap in myotonic dystrophy patients. Half of the patients studied were either partially or totally wheelchair-bound shortly before their death.

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Myotonic Dysrophy Drugs Lead Candidates for Fast Track Autism Spectrum Disorder Testing

NIH officials announced yesterday that a new contract has been let with UCLA to form a network of researchers at various academic institutions to identify promising new and older drug compounds to treat Autism Spectrum Disorder (ASD)  and to see if they merit additional investments.

The program is part of a new initiative called  “Fast Fail” intends to vastly speed up the drug development process and reduce the costs of this drug development. Instead of taking years of work to see if a drug works this Fast Fail process could see results within weeks. As ASD is a huge issue for the USa and other countries this fast testing with myotonic dystrophy drugs could lead to treatments in a much faster time frame.

Dr. James McCraken who is leading the effort at UCLA states “The Whole idea is just getting much better in these early phases at identifying drugs that are going to be efficacious and safe and thereby speeding the development of effective new therapies and reducing the overall cost”

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Review information for Patients With Myotonic Dystrophy

So you’ve been touched by Myotonic Dystrophy. You need a lot of information and Help. The Myotonic Dystrophy Foundation is the premier foundation working to advance the cause and help define treatments. They have a great toolkit to help with a broad understanding of the disease.This toolkit is 124 pages long. Its great!

The Muscular Dystrophy Association of the USA is also working hard to cure the disease. Most Myotonic Dystrophy Patients visit the MDA clinics from Time to time. MDA USA funds a lot of research and they have a new in focus information on Myotonic Dystrophy. Focus on Myotonic Dystrophy MDA USA. There are about 30 pages in this compact review of myotonic Dystrophy. A nice review and graphics of the cause and treatments of DM1.

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