An attempt for neuromuscular diseases



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Effective healing in some patients with a type of Charcot-Marie-Tooth disease has just found out about the most common patient diseases (30,000 patients in France).

"Finally, for the first time since our psychology was recognized – one hundred and sixty-three years ago – it's a great way to go to, Treats his adverse effects on getting a cure. »This glaze of the heart is pushed by Martine Libany and Daniel Tanesse, the XXIX volunteer organizersS The Charcot-Marie-Tooth Association National Congress of people with the disease, France CMT, which will be held on March 30 at Montpellier (www.cmt-france.org).

It is a disease in a long-term CMT that has not been estimated to be a Improving life expectancy (not to be contaminated by Charcot disease, or lateral atleotrophic sclerosis). However, the Norwegian study published in 2017 in the Open Medical Journal Open, based on national records for the year 1977-2012, questioned this opinion.

It is a rare disease (one birth in 2,500) and the symptoms are quite variable, Explain the delay in frequent diagnosis despite the patient's business. "Every year in October we will organize a campaign in five European countries, including France, to raise awareness among the population and health professionals," he said. FigaroDaniel Tanesse, President of the European Federation of CMTs. We also talk about "CMT" & # 39; The classification is better made to make a better difference to the different forms of succession; The disease is both in terms of the type of damage caused by the illnesses, the way of being & # 39; generating genetic or irregular genetic genes. To date, over 90 genealogies have been identified in the CMT but six key CMTs are defined.

"It was thirty years since we were trying to cure in neuromuscular geoscience. Here's one»

Pr Attarian, information center co-ordinator for neuromuscular diseases at the University of Timone Hospital, Marseille

However, there are common points for each CMT. It is diseases of genetic habitats, and so, even if you do not see them away, they are there at birth. They affect the remote illnesses, especially those of their arms and legs. Other diseases such as diabetes or strange toxins can also affect remote neuropathies.

Operatively, there are two kinds of nerves outside. The motive motors, which start up the backbone (in the backbone) to avoid a bone path, and the conscious illness, return to the backbone to Recover the sensitive information (weight, pain, temperature, body condition). In CMT, the two types of nerves have a bearing, which defines the marks.

The disease begins with a decrease in weakness sensitivity in the legs, and gradually the calves and sometimes the slugs. After a few years, the hands and then the hooks can be reached in the same way. Sometimes its first indication of the hands appears. CMT tends to start when they are young or young adults.

Given the muscles are not more active, they rapidly decrease in volume and re-convert, and can adversely affect them, Including legs: the bow will expand and the criteria will be expanded; get "claw" due to recycling tendon. The legs are unstable and unstable, which is becoming unstable and unstable; worrying walking, making it difficult to climb stairs and towens. When hands reach, a good move can be complex and deformities appear.

To make the verification, a measure of moving the strange (electroneuromyogram) stream will be made with good tooths introduced into the optic. Genetic tests also make it possible to determine the origins of genetic disruption in more than half of the issues.

Available from 2021

In October 2018, French Pharnext biotechnics published in the dissemination of the advanced results of an initial drug level 3 test, PXT3003, on a CMT type (CMT1A). It is mixed with a low dose of three molecules (baclofen, naltrexone and sorbitol) that has already been used in other theoretical features.

February 8, at 23it is Days of the French Association of Nerve Isolation, at the Pasteur Institute in Paris, Pr Shahram Attarian, co-ordinator of the Center for Neuromuscular Diseases Call at the University of Timone Hospital in Marseille, confirmed that the new demand for Authorization of Temporary Use (ATU) in France was ongoing.

"Out of 55 patients, 14 were very effective, and some have been stable, which has already been very successful," he said, but the survey is not yet published. "Thanks to the success of a level 3 test test, the French laboratory drug applicant should be available from 2020-2021, and believe that the France CMT company. And although it was confirmed on CMT1A, the Most common way of our illness, it may also be useful in other types of CMT. "Pr Attarian is optimistic: "It was about twenty years since we were waiting for a cure in neuromuscular geography. This is a man."


Philosophy damaged by innovative cures

"This is a hope, in terms of families, but also researchers, that we sometimes lose the vital aspect of improving the life of the patient."it is Nerve's French-speaking days do not speak to them; come from anyone but from Pr Odile Boespflug-Tanguy, Chairman of the AFM-Téléthon Scientific Council. The neuropediatrician is also a co-ordinator of the Leukodystrophies Advocacy Center at Robert Debré Hospital (Public Assistance Hospitals-Paris) and Inserm Investigation Director. "I knew about the time, around thirty years ago where rare diseases did not interest anyone," she says, but now it has become a market who is increasingly for businessmen. cure. "

As good as best, because & # 39; Thanks to the drug drug device that allows them to get faster on drug market and a variety of tax benefits, research has ended in rare diseases. But Pr Boespflug-Tanguy is still careful: "We know that genetic diseases have no satisfactory animal models, we need to think about what is fair enough or not beyond exams."


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