Dejerine-Sottas

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Intensive Support Programmes Benefit Parents Of Children With Rare Diseases

February 28, 2006

Filed under: News You Can Use

Intensive support programmes can help parents of children with rare diseases reduce their stress levels and improve their quality of life, according to research published in the latest Journal of Advanced Nursing.

Jason Mitchener, Author and Songwriter

February 27, 2006

Filed under: People

Just Passing Through by Jason MitchenerJason Mitchener, an author and songwriter with Dejerine-Sottas, recently found his way to this site. Despite being severely affected by Dejerine-Sottas, the disease hasn’t managed to slow him down; he’s the author of Just Passing Through: Notes from a Fellow Traveler, a book of devotionals; writer or co-writer of ten contemporary Christian songs on a CD of the same name; contributor to Mosaic Moments: Devotionals for the Chronically Ill, and wrote songs for the albums Follow Him Home by Steve Cass and Kaly, Tonight. He’s got note cards and postcards of his artwork and a disability awareness coloring book for kids on his website, and even does public speaking appearances about disability for Christian and secular audiences in Arizona.
You can drop Jason a line on the Dejerine-Sottas message boards if you’d like to contact this talented man. Jason, thank you for introducing yourself; our numbers may be few but our community gains much with each new member.

Probing Myelin Protein Zero Gain of Function Mutants

February 24, 2006

Filed under: Genetics

Lawrence Wrabetz, Maurizio D’Antonio, Maria Pennuto, Gabriele Dati, Elisa Tinelli, Pietro Fratta, Stefano Previtali, Daniele Imperiale, Jurgen Zielasek, Klaus Toyka, Robin L. Avila, Daniel A. Kirschner, Albee Messing, M. Laura Feltri, and Angelo Quattrini
The P0 glycoprotein is the most abundant protein in myelinated nerves. The extracellular immunoglobulin-like fold forms tetramers in trans that allow for the compaction of myelin layers. Although mutations in myelin protein zero [MPZ], P0) are well-known causes of neuropathy, the clinical phenotypes vary widely, in contrast to the mild abnormalities caused by heterozygous loss of function. Thus Wrabetz et al. explored the hypothesis that MPZ-neuropathies are attributable to gain of function mutations. They examined transgenic mice expressing MPZ mutations at S63, either S63del or S63C. S63del is the mutation underlying an adult-onset demyelinating neuropathy (Charcot-Marie-Tooth, Type 1B [CMT1B]), whereas the S63C mutation causes an early-onset demyelinating neuropathy Déjérine-Sottas syndrome). Both mutant alleles caused a demyelinating neuropathy despite the coexistence of normal alleles, consistent with a gain of function mechanism. S63C caused a packing defect in the myelin, whereas S63C was retained in the endoplasmic reticulum and elicited a presumably toxic unfolded protein response. [From Medical News Today.]

The President’s Budget Threatens the Christopher & Dana Reeve Paralysis Resource Center (PRC)

Filed under: Action Alerts

On February 6th, President Bush released his proposed federal budget for the Fiscal Year (FY) 2007 to Congress. The President’s budget proposes deep cuts at the Centers for Disease Control and Prevention (CDC) for health promotion and quality of life programs. These proposed cuts include a proposal to eliminate funding for CDC paralysis programs, which fund the Christopher and Dana Reeve Paralysis Resource Center (PRC), the NeuroRecovery Network, and Quality of Life Health Promotion Grants to non-profit organizations around the country.
On the heels of approving the first cut to NIH since 1970 in FY 2006, the President has proposed even deeper cuts in FY 2007. As a result, the total number of NIH-funded research project grants would drop by 642, or 2% below last year’s level — down a total of 15% since 2003. The President’s budget would cut funding for 18 of the 19 institutes — all, except the National Institute of Allergy and Infectious Diseases.
Fortunately, Congress determines how much money is spent on these critical programs. And there is still time for our voices to be heard. The only way to GUARANTEE that these programs are not only saved from cuts but receive the increases we know they need and deserve is for Congress to reject the President’s budget AND provide needed increases to health care programs.
When the Budget Resolution is considered in the House and Senate, oppose the President’s proposed cuts and stand with you, their constituent, in support of our efforts to increase funding for the Christopher and Dana Reeve Paralysis Resource Center, including its Quality of Life grants and the NeuroRecovery Network, paralysis programs and medical research. Request that they vote to increase funding for paralysis programs and research by supporting every effort to increase funding for Function 550* over last year’s level.

ACTION NEEDED NOW

Call 202-225-3121 and ask to speak with your Senators and Representative!

Onset and duration of mivacurium-induced neuromuscular blockade in children with Charcot-Marie-Tooth disease. A case series with five children.

February 1, 2006

Filed under: Journal articles

Paediatr Anaesth. 2006 Feb;16(2):182-7.
Schmitt HJ, Wick S, Munster T.
Department of Anaesthesiology, The Department is part of the Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Summary Background: The Charcot-Marie-Tooth (CMT) disorders are a group of hereditary motor and sensory neuropathies characterized clinically by peripheral muscle wasting and weakness. We hypothesized that unknown involvement of the muscle used for monitoring neuromuscular block may account for the conflicting reports about the effect of nondepolarizing neuromuscular agents in these patients. The aim of this study was to compare onset and recovery from mivacurium-induced neuromuscular block on the adductor pollicis and orbicularis oculi muscles.
Methods: We used mivacurium 0.2 mg.kg(-1) in five children (aged 7-12 years) with CMT type I undergoing propofol-fentanyl-oxygen-air anesthesia for orthopedic surgery. Using acceleromyography, neuromuscular transmission was monitored in parallel in the eye and thumb muscles, and onset and duration times were recorded.
Results: Following bolus administration of 0.2 mg.kg(-1) of mivacurium the onset time ranged between 135 and 240 s and 75 and 165 s in the eye and in the thumb, respectively. The recovery time varied between 5.3 and 16 min and 6 and 31.3 min in the eye and in the thumb, respectively.
Conclusions: In our small series of patients with CMT the clinical duration of mivacurium-induced neuromuscular block was similar to data known from children without neuromuscular disease.