Males are worse off in Myotonic Dystrophy

A new study shows that males seem to be worse off on a number of factors when they have myotonic dystrophy. Social economic ($$$$) money issues as well as from a health standpoint they do not do as well as females. The full study can be seen here Gender and Myotonic Dystrophy

 

SUMMARY

Our study revealed the multidimensional influence of gender in DM1. First, maternal inheritance was associated with longer repeat expansions and more severe phenotype, as previously reported [5, 6]. This has been attributed to marked DNA instability in the female germ cell lineage allowing additional triplets insertion during oogenesis [43]. Such instability also results to an anticipation in case of maternal inheritance, a phenomenon corresponding to earlier onset and more severe symptoms observed in successive generations [10]. Surprisingly, and in contrast to the general assumptions, we observed that fathers transmitted up to 9% of neonatalonset (mild or severe) forms and 50% of infantile forms, especially those with lower cognitive impairment. Another unexpected observation was that only a minority of overall DM1 patients(37%) had maternal inheritance, which is most unusual for an autosomal dominant inherited disease. It probably results from increased miscarriage and perinatal lethality observed in female DM1 transmitters.

The second gender difference implied an unequal prevalence of several DM1 signs and symptoms in men and women. These differences could not be accounted for overall quantitative male-to-female disproportion in our study population (considered in all statistical analysis),or for the age and genotype differences between the two groups. Men tended to have more obvious classical DM1 symptoms, combining cognitive impairment, marked myotonia,cardiac and respiratory involvement whereas women had more extra-muscular and lateonset manifestations, less suggestive of DM1, such as cataracts, obesity, dysthyroidism, G Isymptoms and sphincter dysfunction. The most poorly symptomatic patients were women,implicating occasional hidden DM1 transmissions by undiagnosed female mutation carriers.

In practice, the sex-related differential risks of developing specific manifestations may require sex-orientated care management, which should be specifically adapted for men (at higher risk of mechanical ventilation, respiratory failure or cardiac conduction defects,which could provide more frequent hospitalization and increased mortality according PMSI database) as well as for women (at higher risk of thyroidism, obesity, sphincter dysfunction,and cataracts). This gender disproportion suggests that women could be more carefulwith their own health. This is underlined by FDM-S survey showing a similar number ofannual routine visits to the cardiologist and pneumonologist for both genders, despite male have more cardiac and respiratory involvement, which should prompt more regular medical care. Altogether, the results highlight the importance of a greater awareness about preventive medical care in DM1 male individuals.

Common Antibiotic Might Help Treat Myotonic Dystrophy Type 1 – Promising Therapy

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In a study published in December 2015 in a peer review journal researchers from Japan and Poland found that a commonly used antibiotic might assist in the treatment of Myotonic Dystrophy. This is a sort of stunning discovery as there is no treatment identified to treat the disease. Treatment now consists of reducing symptoms.

The researchers first began by screening antibiotics. In a screen of 20 antibiotics 2-3 were found to have some potential with the disease.When screening the drugs they first used mice cells and lab equipment to find the most promising compounds (drugs). . Erythromyicin was found to have the highest attraction to the RNA CUG expansion (The opposite of CTG repeats in the DNA) Erythromycin was the drug that the researchers chose to study. Click here for the screening graph Muscleblind and Various antibiotics and compounds

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FDA approved Chemotherapy Drug Might Treat Myotonic Dystrophy

In a stunning development The Berglund lab in Gainsville, FL has identified a potential treatment of myotonic dystrophy of a Chemotherapy drug Actinomycin D. In Both Cells and mice that were created to have myotonic dystrophy the drug used at or below levels that are used in human chemotherapy pushed back the Foci that are associated with the disease.

In theory this might be a treatment for myotonic dystrophy. This has not been tried in humans and would be highly risky but for people near end of life this may be a vector for them and their doctors to consider.

Researchers have previously identified what they think is the cause of the disease.In Myotonic Dystrophy the repeat expansion mutation is made into RNA but it does not get out into the cytoplasm. It remains trapped in the nucleus where it sticks to various proteins and appears as spots or foci that can be observed down the microscope. Because these proteins are stuck to the repeat RNA they cannot perform their normal functions correctly within the cell.

Researchers have found that to make progress with this disease, they need to “unstick” the proteins. This drug appears to do this in mice and cells.

Previously to the publication of this article there was no even theoretical treatment available. There are several drugs in development but this takes years of development. For those near end of life with this disease there is now a potential treatment. A copy of the article is here. This is something you may want to discuss with your medical team. Its untried and potentially risky with side effects. More information will be available shortly.

Myotonic Dystrophy Treatment

Please note the study is very technical. We are not recommending this to anyone but bringing all the current information to your attention

More potential good news…. TWEAK Treatment for DM1?

A new article was published from one of the major research centers that researches myotonic dystrophy…. While drug trials are starting very few people this year will be able to access the drug and only 1/2 will get the drug and the other 1/2 will get placebo. Now comes news that a therapeutic agent that is currently available has the theoretical ability to help with myotonic dystophy muscle restoration. While the full article is not available yet here is the abstract from PubMed (below)

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ISIS Issues Press Release on New Myotonic Dystrophy Drug

ISIS Pharmecuticals announces testing of new Drug to Treat Myotonic Dystrophy.

If you have this disease call you local research center and ask to be added to list of potential patients if you want to participate.

Isis Pharmaceuticals Initiates Phase 1/2 Study of ISIS-DMPK Rx in Patients With Myotonic Dystrophy Type 1

ISIS-DMPK Rx Extends the Targeting of Antisense Drugs to Include Muscle Tissue

CARLSBAD, Calif., Dec. 16, 2014 /PRNewswire/ – Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) announced today that it has initiated a study for ISIS-DMPKRx in patients with Myotonic Dystrophy Type 1 (DM1).  DM1 is a rare genetic neuromuscular disease caused by the production of toxic dystrophia myotonica-protein kinase (DMPK) RNA in cells.  ISIS-DMPKRx is specifically designed to reduce toxic DMPK RNA.

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