This is a review article by Giovanni Meola from Italy published in 2013. Click for link ==>Review Article Meola Dec 2013
Review Article by Giovanni Meola Italy on Myotonic Dsytrophy Dec 2013
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Category Archives: Medical
Where’s the Beef? Good News Bomb coming?
Okay lots of hype on the Isis Drug that was supposed to be in early stage trials this year in actual human beings. To us waiting January 1st is a good day to start. Now we are in JUNE! Yo Isis! We are waiting patiently.
I would imagine (hopefully) the results of the lab test have been so incredibly positive that they had to delay a few months to contain their joy at what a great drug they developed………. Hopefully not the converse.
We are waiting Isis for the good news. Drop us a good news bomb!
Study Confirms Enhanced Risk of Cancer caused by DM gene
A recent study has shown that relatives of DM patients do not have an enhanced cancer risk. Itappears that the genes themselves that cause DM cause this heightened cancer risk.
Eur J Neurol. 2014 May 17. doi: 10.1111/ene.12466. [Epub ahead of print]
Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study.
Lund M1, Diaz LJ, Gørtz S, Feenstra B, Duno M, Juncker I, Eiberg H, Vissing J, Wohlfahrt J, Melbye M.
Abstract
BACKGROUND AND PURPOSE:
Myotonic dystrophies (DM) are autosomal dominantly inherited neuromuscular disorders caused by unstable nucleotide repeat expansions. DM and cancer have been associated, but the pathogenesis behind the association remains unclear. It could relate to derived effects of the DM genotype in which case non-DM relatives of DM patients would not be expected to be at increased risk of cancer. To elucidate this, a population-based cohort study investigating risk of cancer in relatives of DM patients was conducted.
METHODS:
DM was identified using the National Danish Patient Registry and results of genetic testing. Information on cancer was obtained from the Danish Cancer Registry. A population-based cohort of 5 757 565 individuals with at least one relative was established using the Danish Family Relations Database based on kinship links in the Danish Civil Registration System. Familial aggregation of cancer was evaluated by (incidence) rate ratios (RRs) comparing the rate of cancer amongst relatives of patients with DM from 1977 to 2010 (exposed) with the rate of cancer amongst persons with a relative of the same type but without DM (non-exposed).
RESULTS:
In first-degree relatives of individuals with DM the adjusted RR of cancer was 0.89 (95% confidence interval 0.71-1.12) overall, and in stratified analyses 0.68 (0.37-1.12) before age 50 and 0.96 (0.74-1.23) at age 50 or older.
CONCLUSIONS:
The present study does not support an increased risk of cancer in non-DM relatives of DM patients suggesting that cancer and DM are associated through derived effects of the DM genotype.
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
- C E de Die-Smulders,
- C J Höweler,
- C Thijs,
- J F Mirandolle,
- H B Anten,
- H J Smeets,
- K E Chandler and
- J P Geraedts
+ Author Affiliations
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.
MD Care Act Reauthorization 2013
MD CARE Act Reauthorization (2013) Your help is needed
Share this post And Take Action. Write or call your senator and congressperson today
The passage of the original MD CARE Act in 2001 was a “game changer” for the myotonic muscular dystrophy community, and since that time, we have “moved the needle” in clinical care and therapy development. The MD community worked hard to ensure that the MD CARE Act would become law, and all our efforts paid off. The Rochester Center for excellence was established and has provided great strides in myotonic dystrophy research. But this helps not only myotonic dystrophy.