Necton teenager Christopher Vear battles the odds to study at University of...
A student achieved a lifelong dream this week when he began his course at the University of East Anglia despite suffering from a rare degenerative disease. Now Christopher Vear, from Necton, is hoping...
View ArticleKincardine mum Susan determined to live her life after being diagnosed with...
A KINCARDINE mum who was diagnosed with the rare Charcot-Marie-Tooth disease is raising awareness of the incurable condition. Susan Wallace, 52, of Bank Street, has lived with CMT all her life but it’s...
View ArticleSaffron Walden teenager defies rare neurological disease by taking part in 10...
A determined teenager from Saffron Walden is defying a rare, inherited neurological disease by taking part in 10 triathlons this year – and has raised more than £3,000 for a charity which is helping...
View ArticleMRC Centre-BRC MRI Biomarker Collaboration in Lancet Neurology:
Important implications for experimental trials in Neuromuscular Diseases 9 November 2015 – http://www.ucl.ac.uk/ion/articles/news/20151106 A UCL Institute of Neurology study published in Lancet...
View ArticleBioPontis Alliance for Rare Diseases
BioPontis Alliance for Rare Diseases today announces receipt of a large three year donation from the prestigious Baillet Latour Fund (BLF) in Belgium. BioPontis Alliance has the mission to translate...
View ArticleNew Survey – about Walking
Dear CMTer Study title: Survey exploring the use of walking aids in people with Charcot-Marie-Tooth disease I am a research physiotherapist and studying for a PhD at the faculty of Health, Social Care...
View ArticleCampaigner Making film to raise awareness of rare disease
Muswell Hill campaigner making film to raise awareness of rare disease 09:00 04 June 2016 Anna Behrmann Doug Sager (centre) with volunteers taking part in the film. Picture: Nigel Bewley The...
View ArticleUnderstanding cell membrane changes
Understanding cell membrane changes in centronuclear myopathy and Charcot-Marie-Tooth disease Dr Andrew Shevchuk and his team from Imperial College London will investigate how mutations associated with...
View ArticleNew therapeutic targets identified in Charcot-Marie-Tooth disease
Research conducted at the Institute of Neurology of University College London (UCL) and just published in the Proceedings of the National Academy of Sciences USA has identified a set of novel...
View ArticleAcceleron Announces Plans to Initiate a Phase 2 Trial of ACE-083
– Second Phase 2 study for ACE-083 expected to begin 2H 2017 Acceleron Pharma Inc, a clinical stage biopharmaceutical company focused on the discovery, development and commercialization of innovative...
View ArticlePatient Information Day
Dear Patient and families CMT Patient information day – Saturday 30 September 2017 from 10.00- 14.00 Thank you for registering for the forthcoming patient day which is being organised by the MRC Centre...
View Article‘My daughter was in a wheelchair just nine months after being diagnosed with...
A mum wants to raise awareness of a rare condition that saw her daughter in a wheelchair just nine months after she was diagnosed. Amanda Smith, 41, from Bingham, says that her daughter, Ciara Cox,...
View ArticleMother with feet-shrinking condition only got diagnosis after going online
A mother who suffers from a disorder which makes feet shrink only managed to get a diagnosis after sharing symptoms online. Sophie Earl-Park suffers from Charcot-Marie-Tooth disease (CMT), a group of...
View ArticleDaily Mail Snippet 27 August 2017
Charcot-Marie-Tooth disease (CMT) is a genetic neurological disorder that affects around 23,000 people in the UK but is little known. CMT can cause uncontrollable pain, chronic fatigue and deformities...
View ArticleA father has told of heartbreak after son inherits the same rare degenerative...
A father has told of his heartbreak after his son inherited the same rare degenerative condition as him and is now struggling with mobility — aged just five Andrew Frerichs, 51 and son Calum, 5, both...
View ArticleWhat is Charcot-Marie-Tooth disease? Here’s what you need to know
During September’s Charcot-Marie-Tooth Disease Awareness Month, we look at the symptoms of this inherited neurological condition. Have you ever heard of Charcot-Marie-Tooth disease? It’s the most...
View ArticlePain and fatigue could be symptoms of THIS incurable neurological condition
CHARCOT-MARIE-TOOTH is a neurological, incurable condition which can cause symptoms including uncontrollable pain and chronic fatigue. Charcot-Marie-Tooth (CMT) can also cause deformities in the lower...
View ArticleUnderstanding cell membrane changes in centronuclear myopathy and...
Dr Shevchuk and his team have established a method that allows them to study the effects of mutations in the dynamin 2 gene that are linked to centronuclear myopathy (CNM) and Charcot-Marie-Tooth...
View ArticleCharcot-Marie-Tooth disorder: I grew up being told I was lazy and useless
ROSE Brewis was an adult before she discovered she had progressive muscle-wasting disease CMT which affects thousands in the UK. As Rose Brewis grew up she became accustomed to the taunts and jeers of...
View ArticleCharcot-Marie-Tooth 1A Patients Have Significant Clinical Decline After Age...
Researchers have found that disease progression in Charcot-Marie-Tooth type 1A (CMT1A) patients reaches a critical point at age 50, after which clinical decline occurs faster. In response, patients...
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