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
A new article was published on myotonic dystrophy from a number of researchers in Spain. This was a broad review by many specialists. We do not yet have a full review of the article but when the full article is available we will review it more thoroughly. Here are a few key conclusions:
The genetic diagnosis of myotonic dystrophy should quantify the number of CTG repetitions. -reason this gives some idea of the severity of the disease
Myotonic Dystrophy patients need cardiac and respiratory lifetime follow-up. These symtoms get worse with time and must be tracked
Before any surgery under general anaesthesia, a respiratory evaluation must be done for myotonic dystrophy patients. surgery is serious and the anesthesiologist needs to know the strength of the respiratory system.
Dysphagia in myotonic dystrophy must be screened periodically. – This can cause severe problems and can give an idea of the progression fo the disease
Genetic counselling must be offered to patients and relatives with myotonic dystrophy.
Steinert’s disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1.
MATERIAL AND METHODS:
Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide.
RECOMMENDATIONS:
The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives.
CONCLUSION:
MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
New information on a heart problem that is present in many of the adult patients with myotonic dystrophy – atrial flutter. This is the heart beating too fast in the upper chambers of the heart. This new information from France gives an over view and possible treatments for this symptom. Sorry the whole article is not available for free!
Neuromuscul Disord. 2016 Feb 10. pii: S0960-8966(15)30123-1. doi: 10.1016/j.nmd.2016.01.005. [Epub ahead of print]
Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome.
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.
