Draft report from the Muscular Dystrophy Coordinating Committee

Posted on May 12, 2015 by Richard

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.

Click Below for full copy of the Plan

MDCC Action Plan 2015 draft

Review Article by Giovanni Meola Italy on Myotonic Dsytrophy Dec 2013

Posted on June 4, 2014 by Richard

This is a review article by Giovanni Meola from Italy published in 2013. Click for link ==>Review Article Meola Dec 2013

Causes of Death Myotonic Dystrophy – Survival to age 65 lower

Posted on June 4, 2014 by Richard

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

+ Author Affiliations

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.

Myotonic Dystrophy Becomes G71-11 on October 1, 2014

Posted on January 8, 2013 by Richard

2013 ICD-10-CM Diagnosis Code G71.11

Myotonic muscular dystrophy

G71.11 is a billable ICD-10-CM code that can be used to specify a diagnosis.
On October 1, 2014 ICD-10-CM will replace ICD-9-CM in the United States, therefore, G71.11 and all ICD-10-CM diagnosis codes should only be used for training or planning purposes until then.

Applicable To

Dystrophia myotonica [Steinert]
Myotonia atrophica
Myotonic dystrophy
Proximal myotonic myopathy (PROMM)
Steinert disease

ICD-10-CM G71.11 is part of Diagnostic Related Group(s) (MS-DRG v28.0):

091 Other disorders of nervous system with mcc
092 Other disorders of nervous system with cc
093 Other disorders of nervous system without cc/mcc

General Information on DM1

Featured

Posted on September 7, 2012 by Richard

This is a diagram or the major effects of Myotonic Dystrophy on the Human. Click to enlarge

The Blog. You’ve reached this site as you may be the one of nearly one million people affected by Myotonic Dystrophy Worldwide. This site aggregates and publishes all information on Myotonic Dystrophy Myotonic Dystrophy is a disease that is genetically based and inherited from one generation to the next. One out of two children of a person with myotonic dystrophy will most likely have the disease. Unlike most diseases, the symptoms that a person with this disease varies from person to person. Some people are just mildly affected others are severely affected. This makes it hard to tell you exactly how the disease will affect a particular person.

Four treatments that have potential have now surfaced about Myotonic Dystrophy. These are three approved Drugs by FDA and “off label use” may assist some people with DM1. (As always check with your Doctor) . The other is a drug that is not FDA approved in the USA for human use. Three off label uses have showed promise in mice studies but as yet there is no human data… In January of 2017 Ionis Pharmaceuticals stopped the trials of its DMPK-2.5Rx drug as it failed to show promise in the human trials. There are a few drugs that are in development to treat myotonic dystrophy with various approaches such as small molecules but not available now. There have been some studies in mice or human cells of currently approved FDA drugs but no human studies. A few are listed below.

===> Furamidine Study in mice and cells with Erythromycin
====>Colchicine (Colcrys, Mitigare), Fall 2019 a study in mice and human cells

====> Erythromycin study in cells and mice successfully pushes back disease in Mice
====> Actinomycin D study in cells and mice successfully pushes back disease in Mice
====> Phenylbutazone Ketoprofen Study in cells and mice pushes back disease in mice. NSAID type drugs. Ketoprofen would be strongly preferred. However, ketoprofen is no longer manufactured.

NOTE: These potential treatments are just that potential. NO studies in humans have been completed and reported. However, more and more information is available and here at this site you will find all that is published. You and your doctor should discuss these if you feel it warranted.

Myotonic dystrophy is a rare disease with an incidence of about one in 8000 in European and North American Populations. The incidence in Japan is approximately 1 in 20,000. In Africa and China the incidence is much lower. The incidence of the congenital form of myotonic dystrophy is much lower with an incidence of 1/100,000. A more recent study by Campbell in Canada put the incidence of the congenital form at 1/47,000 That means that most doctors will not have a patient with the disease in their practice. Thus, many people are turning to organizations like the Myotonic Dystrophy Foundation for help and assistance.

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