Thanks to our partners, supporters, friends who helped us to support our research project through their initiatives. Thanks to the many patients all over the world who joined and help us to raise awareness of… Altro
Local and general anaesthesia may imply some risks for patients suffering from CMT or other neuromuscular diseases since their neurological response might be abnormal compared to that of other patients.
Some common problems dealing with neuropathies (as respiratory problems, paralysis of the vocal chords, diabetes etc) might be present: if they are, doctors should have been told about them immediately, in order to take appropriate precautions. At the same time, doctors need to know about the difficulties in monitoring due to the extremities’ denervation caused by neuropathy.
Finally, not all the anaesthetic medicines are recommended for this kind of patients, so you should be very careful with the choice.
Every CMT patient need to be aware about these kind of problems because it is very important to inform anesthesiologists about them.
We invite you to refer to recommendations drawn up during the Consensus Conference – Turin 2011 – and published on Minerva Anestesiologica (the Official Journal of the Italian Society of Anesthesiology, Analgesia, Resuscitation and Intensive Care) by an Italian study group led by two eminent specialists: Prof Tiziana Mongini e Dr Racca.
The “Centro Dino Ferrari” of the University of Milan has dedicated an entire page of its own website to our association and research project.
The Centre was founded in 1978 by the Eng. Enzo Ferrari in memory of his son affected by muscular dystrophy and it is, nowadays, a renowned University Research Centre involved in the Diagnosis and Therapy of Neuromuscular and Neurodegenerative Diseases.
The research carried out over the past years by the Centre now directed by Prof. Nereo Bresolin played an important role in acquiring new and fundamental knowledge in the neuroscience field: hundreds of articles published in specialized high impact journals documented how much this scientific progress has been internationally recognised.
The headquarter of the Centre is the University of Milan at IRCCS Fondazione Ca’ Granda, Ospedale Maggiore Policlinico, but the ceaseless work of reaserchers takes place at the IRCCS Istituto Auxologico Italiano and IRCCS E.Medea di Bosisio Parini (LC) as well.
By clicking on the below, you can read about the valuable cooperation (we are very proud of) between the Centre and our association; and find out more about the project we have been supporting for many years: the MITOFUSIN 2 PROJECT which involves a team of researchers coordinated by Doct Federica Rizzo under the scientific responsability of Prof. Stefania Corti, Prof. Giacomo Pietro Comi and Prof. Nereo Bresolin.
Do not hesitate to write us for any question: email@example.com
CMT France, the friend association we are sharing a common project of information exchange with, sent us the file SAVOIR & COMPRENDRE: avancées de la recherche (“Knowing & understanding: the advancement of research”) edited by AFM-Téléthon.
Many updates on Charcot-Marie-Tooth research as international conferences, ongoing studies and clinical trials, scientific and medical publications concerning this pathology are submitted in this document drawn up for the 2017 Families’ Day.
You may also download the file on the AFM-Téléthon web site:
http://www.afm-telethon.fr > Concerné par la maladie > Maladie de Charcot-Marie-Tooth
where you can find other technical, scientific, medical and psychological information about CMT.
Although it does include no reference to CMT2A, knowing the quantity and the quality of research (so much and absolutely innovative) in the field of CMT is interesting for all of people suffering from this pathology (doesn’t matter what the type is) in the hope that something about the cure may happen a day.
The report is written in French, but if you have something to ask about a particular topic, we will be pleased to translate its contents. Do not hesitate to contact us!
The last Paralympic Games have brought amazing athletes (and their performances full of courage and ability) to the fore causing respect and admiration in all of us. One of those was Jonathan Hivernat who plays rugby on wheelchair and suffers from CMT.
Jonathan is the captain of the French team that went to Rio 2016 . At 11 he was diagnosed with a severe form of CMT1A which forced him very soon to use a wheelchair; Jonathan, however, never gave up: before he started practicing table tennis and then, at 19, he discovered rugby on wheelchair.
This sport, invented by hockey and football players injured on the field, is one of the most spectacular sports of the Paralympic Games: the chairs become real assault weapons that players must solidly hold on to avoid slipping and being hit.
“We could say that rugby on wheelchair allows us to mistreat the prejudices about disability: there is nothing more disrespectful than willfully dropping a person seated on a wheelchair,” says CMT from France.
“Champions despite everything” is the title of the article published on the association’s magazine dedicated to this amazing French athlete; we can all be champions, we would like to add, because sport is for everyone, even (and especially) for those suffering from a pathology like ours.
We would like to bring some scientific studies about CMT2A we recently found onPubmed to your attention. We divided them by country as we usually do on our website, in the section Resources , where you can find a large literature about Charcot-Marie-Tooth type 2A.
Some scientific studies carried out in China below.
- A scientific study about three new MFN2 pathogenic mutations find out through NGS method (Next-Generation Sequencing) at Shanghai Medical College and University Hospital of Hangzhou, analysing 22 chinese families with CMT.
IMPROVING MOLECULAR DIAGNOSIS OF CHINESE PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE BY TARGETED NEXT-GENERATION SEQUENCING AND FUNCTIONAL ANALYSIS
A scientific study conducted at the University of Suzhou and, simultaneously, at the College of Shanghai a new mutation of the gene MFN2 was discovered in a child of four years.
- A scientific study conducted at the Peking University in Beijing in which the clinical symptoms and genetic mutations have been analysed in 20 patients from 12 families with Chinese CMT2A.
- A scientific study carried out in Changsha from which we can obtain some statistical number about the CMT2A incidence: MFN2 gene mutation accounts for 18% of CMT sick families in China.
An interesting meeting organized by the association CMT France will be held in Paris next August 26th “CMT avec début précoce des symptômes chez l’enfant et toute personne concernée par la CMT2A (MFN2)”.
The iniziative is addressed to families with children affected by severe forms of CMT and even to people, adults or teenagers, suffering from CMT2A.
An occasion to meet other patients with the same pathology and to exchange, in presence of the distingueshed Prof Benôit Funalot, precious information on the illness. A neuro pediatrician and a contact person of the AFM Téléthon will be present too.
The programme and the application below:
Enrolling before August 8th, 2017 is mandatory. The official language of the meeting will be French, no traslation will be provided.
CMT: between hope and reality is the title of the Congress organized by CMT France last March, 25 in Poitiers.
“This year we can finally talk about hope” said Daniel Tanesse, Vice President and Head of the Congresses the association regularly organizes every year to gather its members and talking about important issues concerning Charcot-Marie-Tooth disease. “Hope which leads us to undertaking scientific studies for the care and treatment of our disease“.
There are, in particular, four ongoing clinical studies the CMT France is official partner of which have been described at the Conference taken place in the centre of the France. The first three are about CMT1A:
- a project, currently in the Phase III (the final one) of the trial, which concerns the medicine PXT-3003 at the laboratory Pharnext ;
- another one in phase II regarding the medicine Ulipristal acetate at the CHRU of Strasbourg
- and the one in Phase I of the medicine IFB-088 at the InFlectisBioScience laboratory.
The last one is about CMT1X:
- a research project the CNRS et INSERM of Strasbourg and Marseille have been carrying out.
On one side is hope feeding our desire and positive expectation (a speech on how epigenetic might affect our health has been given), on the other is reality made by “tiredness and pain”, two constants of the daily life people suffering from this rare disease live.
The topic “Tiredness” in Charcot-Marie-Tooth disease has been addressed by the association for the first time in Poitiers Conference, that of the “Pain“, already considered in the past instead, has been developed in a multidisciplinary approach: neurological (“Pain and CMT “), nutritional (” Micronutrition, pain and tiredness in CMT”), and postural (“Posture, balance and pain”).
The sociologist Michel Billé with his speech about “Hope brings to life…” which concluded with a positive note the interventions of the Conference.
You can find more detailed information about the day on the site of CMT France: