Research Opportunity in Florida

You can assist researchers on a couple of issues in myotonic dystrophy. Read more about this ongoing study. (Posted in May 2019)

Studies of skeletal muscle and gastrointestinal dysfunction in myotonic dystrophy and controls


This study is designed to obtain data regarding 2 aspects of the phenotype in myotonic dystrophy (dystrophia myotonica or DM). These are multi-system diseases leading to symptoms in many regions of the body including skeletal muscles, central nervous system and the GI tract.

The aims of the study are two-fold: 1. to obtain physiological recordings of muscle contraction and motor unit activation in selected skeletal muscles to obtain possible outcome measures for future drug trials as well as understand the physiological underpinnings of motor dysfunction in these patients; 2. to study the role of the gut microbiome in relation to the gastro-intestinal dysfunction in DM patients.


  • Tasks to measure strength, fatigue, force and reaction time
  • Blood and stool samples 

For more details about study procedures, please contact Stephen Gullet:


  • Over the age of 18
  • Molecularly confirmed DM 1 or DM 2 (symptomatic subjects in whom diagnosis is based on DNA analysis in affected family members will also qualify)
  • Ambulatory with or without assistive devices
  • Competent and willing to provide informed consent and participate in study procedures

Additional criteria apply, for more information please contact Stephen Gullet:


18 to 65
65 and over



Can be done from home



Muscular dystrophyMuscular dystrophy – resources, Neurology

Principal Investigator

S.H. Subramony, MD



Contact Information


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New Info about the AMO Myotonic Dystrophy Drug

Here is some information from the Muscular Dystrophy Group in the UK about the AMO drug that will be tested in the USA. I may be difficult to read if so click here for the link to the full report and look on page 9-10


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Cydan, Inc is using new business model to accelerate Myotonic Dystrophy drug

Developing a new drug to treat myotonic dystrophy is very expensive. It can take tens millions of dollars to make and test a new drug. Cydan a comapny has a new novel approach that spins off a new company and aquires capital n a novel way to help reduce the risk of this new drug development. For example Ionis Pharmaceuticals spents millions developing a drug that in fact they did not bring to market. A big loss this new framework might lead to more drug development for us! Below is a presentation on this technique


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Why breathing is such an issue with Congenital Myotonic Dystrophy

Breathing is a huge and life threatening issue in myotonic dystrophy. An article recently shed some light on the reasons for this. Because of ethical issues its difficult to do live tests on humans. However, our fine researchers have created mice that have the congenital form of myotonic dystrophy. Through detailed analysis of the mice and there breathing they have isolated the issue to the neuropathology of several body systems. That means its not only the muscle issues but there are some nerve conduction issues involved as well. This information will help the drug companies as they design drugs to help not only the muscle issues but the nerves that serve to coordinate the breathing mechanisms. As a drug is introduced testing it on these mice would see if it will help the respiratory function.

Results from the Study
Because it is not feasible to take biopsies of the nervous system from
patients with DM1 for histological examinations, animal models are
indispensable for the study of the mechanisms underlying respiratory
failure in this disease. In this study, the authors test the respiratory function
and analyze the structures involved in respiratory function in DMSXL
transgenic mice, an established animal model for congenital DM1 (the severest
form of the disease, which develops at birth) that carries a very long CTG
repeat in the DMPK gene. Statistical analysis of breathing function
measurements shows that DMSXL mice have impaired respiratory function.
Histological and morphometric analyses reveal pathological changes in the
diaphragmatic neuromuscular junctions and muscle fibers of DMSXL mice and
a significant decrease in the number of unmyelinated phrenic afferents. By
contrast, DMSXL mice exhibit no significant neuronopathy in either cervical
phrenic motor neurons or brainstem respiratory neurons.
Implications and future directions
By shedding new light on the cellular mechanisms of respiratory failure in
DM1, these findings improve understanding of the main cause of death in
congenital DM1. The denervation and the pathological changes of the
diaphragmatic neuromuscular junctions observed in DMSXL mice suggest that
a breakdown in communication between the diaphragmatic muscle fibers and
the nerve endings might be the main cause of respiratory failure; the loss of
phrenic unmyelinated afferents suggests that altered regulation of breathing is
also involved. As well as contributing towards the understanding of respiratory
failure in DM1, these findings suggest that the evaluation of respiratory
parameters in DMSXL mice by non-invasive pressure plethysmography could
be used to evaluate the effect of potential therapies. Moreover, future analyses
of gene expression in DMSXL mice might contribute to our understanding of
the molecular mechanisms involved in respiratory impairment.


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What causes the Congenital Form of Myotonic Dystrophy

This has always been a puzzle. Most cases of the congenital form of myotonic dystrophy come from the mother having myotonic dystrophy. This recent information has helped with our understanding of this separate disease.


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