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Mother has a rare condition that is making her feet shrink
Sophie Earl-Park, 29, has Charcot-Marie-Tooth disease (CMT), which is defined as a group of disorders that damage the nerves outside the brain and spine. It affects around 25,000 people in the UK. (Source: the Mail online | Health)
Source: the Mail online | Health - August 31, 2017 Category: Consumer Health News Source Type: news

Falkirk son inherits Charcot-Marie-Tooth disease like dad
Andrew Frerich, 51,  and son Calum, from Falkirk, Scotland, both live with Charcot-Marie-Tooth disease. His father says Calum 'doesn't realise he has limitations' and hurts himself. (Source: the Mail online | Health)
Source: the Mail online | Health - August 31, 2017 Category: Consumer Health News Source Type: news

Pain 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. (Source: Daily Express - Health)
Source: Daily Express - Health - August 16, 2017 Category: Consumer Health News Source Type: news

Acceleron begins dosing in Phase II trial of ACE-083 to treat CMT
Acceleron Pharma has started dosing patients in a Phase II clinical trial of its therapeutic candidate ACE-083 for the treatment of Charcot-Marie-Tooth disease (CMT) patients. (Source: Drug Development Technology)
Source: Drug Development Technology - August 1, 2017 Category: Pharmaceuticals Source Type: news

3-D prints used to compare effectiveness of top surgical techniques for repairing heel deformity
(Cedars-Sinai Medical Center) Using 3-D models of a patient's foot, investigators at Cedars-Sinai have found that the three leading procedures for treating heel deformities do not adequately correct the debilitating problem. Investigators used 18 identical 3-D prints of a single patient's heel to evaluate the most common techniques for treating Charcot-Marie-Tooth disease (CMT), a genetic neuromuscular disease that kills the long nerves in the hands and feet. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 17, 2017 Category: Global & Universal Source Type: news

Pharnext begins Phase III extension trial of PXT3003 to treat type 1A CMT
French biopharmaceutical company Pharnext has begun the Phase III extension trial (PLEO-CMT-FU) of PXT3003 for the treatment of patients with mild-to-moderate charcot-marie-tooth disease type 1A (CMT1A). (Source: Drug Development Technology)
Source: Drug Development Technology - March 20, 2017 Category: Pharmaceuticals Source Type: news

MDA and CMTA fund grant to study gene therapy in charcot-marie-tooth disease
(Charcot-Marie-Tooth Association) The Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Association (CMTA) March 17 announced a research grant totaling $119,999 to Kleopas Kleopa, M.D., for a study on the effectiveness of a gene therapy approach in CMT1X. In an earlier study, Kleopa and his colleagues showed that a single injection of the gene that is mutated in CMT1X was associated with production of normal protein in nerves and improvement of peripheral nerve health and motor performance. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 17, 2017 Category: Global & Universal Source Type: news

Pharnext completes patient enrolment in Phase lll trial of PXT3003 to treat CMT1A
French biopharmaceutical company Pharnext has completed the enrolment of patients for its new Phase lll PLEO-CMT trial of PXT3003 for the treatment of Charcot-Marie-Tooth disease type 1A (CMT1A). (Source: Drug Development Technology)
Source: Drug Development Technology - December 21, 2016 Category: Pharmaceuticals Source Type: news

BioPontis Alliance for Rare Diseases and VIB announce partnership on rare diseases
(VIB (the Flanders Institute for Biotechnology)) Today, BioPontis Alliance for Rare Diseases, a unique international nonprofit organization, and VIB, an excellence-based Life Science Research Institute in Belgium, announced a strategic partnership in rare diseases. The first program is aimed at developing a treatment for one type of Charcot Marie Tooth disease (CMT), a rare, progressive and invalidating neuropathy. There are no therapies available for CMT patients today, although it affects 1/2,500 worldwide. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - September 2, 2016 Category: Biology Source Type: news

NIH grant will fund new JAX Resource for Research of Peripheral Neuropathy
(Jackson Laboratory) The National Institute of Neurological Disorders and Stroke has made a grant to The Jackson Laboratory to develop mouse models for inherited peripheral neuropathies and neurodegenerative diseases including Charcot-Marie-Tooth disease. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 17, 2016 Category: Global & Universal Source Type: news

What Do You Do When a Child Wants to Die?
When 5-year-old Julianna Snow began having trouble breathing, her parents didn't rush her to the hospital. Instead, they made her comfortable in her princess-themed bedroom and held her until she slipped away. A promise kept. It wasn't an unexpected death. Julianna had Charcot-Marie-Tooth disease (CMT), an incurable neuromuscular disorder. The young girl had expressed her wish to die at home. Her parents and doctors gave her the care she needed while supporting her choice. "She went after 18 beautiful months [in hospice]. She didn't go after a year of horrible hospitalizations," her mother told CNN. Vital c...
Source: Healthy Living - The Huffington Post - July 5, 2016 Category: Consumer Health News Source Type: news

NYSCF and CMTA announce largest-ever research resource for neuropathy disorders
(New York Stem Cell Foundation) The New York Stem Cell Foundation (NYSCF) Research Institute and the Charcot-Marie-Tooth Association (CMTA) today announced that the stem cell lines resulting from their pathbreaking collaboration beginning in 2014 will now be available for use by other researchers in the largest and first ever initiative of its kind. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 21, 2016 Category: Global & Universal Source Type: news

Mystery of disease behind Andrew Wyeth's Christina's World is solved
The woman in Andrew Wyeth's famous painting Christina's World, suffered from Charcot-Marie-Tooth disease, which causes movement problems, according to experts from the Mayo clinic, Rochester. (Source: the Mail online | Health)
Source: the Mail online | Health - May 6, 2016 Category: Consumer Health News Source Type: news

Mystery of disease behind one of the world's most famous paintings is solved: Crawling woman in 'Christina's World' has rare nerve condition, expert claimS
The woman in Andrew Wyeth's famous painting Christina's World, suffered from Charcot-Marie-Tooth disease, which causes movement problems, according to experts from the Mayo clinic, Rochester. (Source: the Mail online | Health)
Source: the Mail online | Health - May 6, 2016 Category: Consumer Health News Source Type: news

Pharnext Announces the Opening of the First U.S. Study Site for its PLEO-CMT International Pivotal Phase 3 Trial in Charcot-Marie-Tooth Disease Type 1A
PARIS, April 25, 2016 -- (Healthcare Sales & Marketing Network) -- Pharnext today announced the opening of the first U.S. trial site for its PLEO-CMT pivotal Phase 3 clinical trial of its lead pleodrug PXT3003 in Charcot-Marie-Tooth Disease Type 1A (CMT1A... BiopharmaceuticalsPharnext, PLEO-CMT, Pleotherapy, Charcot-Marie-Tooth (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - April 25, 2016 Category: Pharmaceuticals Source Type: news

Researchers identify new cause of inherited neuropathy
Charcot-Marie-Tooth Disease is a family of inherited disorders of the peripheral nervous system, affecting approximately one in 2,500 Americans. Its most common iteration, CMT1, comes in many forms, most of which have to date been linked to a small set of causative genes. New research recently uncovered a new genetic cause of CMT1. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - March 23, 2016 Category: Science Source Type: news

Penn researchers identify a new cause of inherited neuropathy
(University of Pennsylvania School of Medicine) Charcot-Marie-Tooth Disease is a family of inherited disorders of the peripheral nervous system, affecting approximately one in 2,500 Americans. Its most common iteration, CMT1, comes in many forms, most of which have to date been linked to a small set of causative genes. New research from the department of Neurology at the Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia recently uncovered a new genetic cause of CMT1. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 23, 2016 Category: Global & Universal Source Type: news

What Are the Clinical Presentation of Charcot-Marie-Tooth Disease?
Discussion Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy, is the most common cause of inherited neuropathies affecting 10-82:100,000 individuals. CMT comprises a heterogeneous group of peripheral, chronic inherited neuropathies that affects both the motor and sensory neurons and which have different genetic causations. Charcot and Marie were both French neurologists and Tooth was a British neurologist who described distal muscle wasting in 1886. Dejerine and Sottas reported the infantile form in 1893 which bears their name for this more severe clinical subtype. CMT classification is advancing...
Source: PediatricEducation.org - November 16, 2015 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Targeting mutant proteins might be silver bullet for neurodegenerative diseases
A mutant protein has been identified by scientists as culprit in Charcot-Marie-Tooth (CMT) diseases. CMT is a group of hereditary disorders that affects about 1 in every 2,500 people in the United States, making it one of the most common inherited neurological diseases. While different forms of the disease vary in their symptoms and underlying genetic causes, the common thread is that CMT damages the nerves in a person's arms and legs. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - October 21, 2015 Category: Science Source Type: news

Pioneering DNA treatment helps IVF baby be born free from genetic disease
Carmen and Gabriel Neagu, who live in Essex, trialled ground-breaking Karyomapping treatment in a London clinic, to ensure son Lucas wasn't born with inherited disease Charcot-Marie-Tooth (CMT). (Source: the Mail online | Health)
Source: the Mail online | Health - May 17, 2015 Category: Consumer Health News Source Type: news

Visualizing Directional Rab7 and TrkA Cotrafficking in Axons by pTIRF Microscopy
Rab7 GTPase is known to regulate protein degradation and intracellular signaling via endocytic sorting and is also known to be involved in peripheral neurodegeneration. Mutations in the GTP-binding pocket of Rab7 cause Charcot–Marie–Tooth type 2B (CMT-2B) neuropathy. It has been suggested that the CMT-2B-associated Rab7 mutants may disrupt retrograde survival signaling by degrading the signaling endosomes carrying the nerve growth factor (NGF) and its TrkA receptor. Studying the cotrafficking of Rab7 and retrograde-TrkA endosomes in axons is therefore important to understand how Rab7 mutants affect the NGF sign...
Source: Springer protocols feed by Biochemistry - March 26, 2015 Category: Biochemistry Source Type: news

Overwork Weakness Relevance in Charcot-Marie-Tooth DiseaseOverwork Weakness Relevance in Charcot-Marie-Tooth Disease
Overwork weakness is a well-established phenomenon in several neuromuscular disorders, but this study questions its bearing on Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery, and Psychiatry (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - January 21, 2015 Category: Consumer Health News Tags: Neurology & Neurosurgery Journal Article Source Type: news

Baclofen-Naltrexone-Sorbitol for Charcot-Marie-Tooth DiseaseBaclofen-Naltrexone-Sorbitol for Charcot-Marie-Tooth Disease
Combining three familiar drugs that treat other conditions may help patients with Charcot-Marie-Tooth type 1A disease (CMT1A), a new proof-of-concept study suggests. Reuters Health Information (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - December 30, 2014 Category: Consumer Health News Tags: Neurology & Neurosurgery News Source Type: news

Pharnext drug shows promise in neurological disease with no treatment
(Reuters) - Using technology gleaned from the mapping of the human genome, privately held French drug developer Pharnext SAS is a step closer to providing a treatment for a rare neurological disorder called Charcot-Marie-Tooth (CMT) disease, for which no pharmaceutical therapy exists. (Source: Reuters: Health)
Source: Reuters: Health - December 18, 2014 Category: Consumer Health News Tags: healthNews Source Type: news

Recent Advances in Charcot-Marie-Tooth DiseaseRecent Advances in Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth is the most prevalent hereditary neuromuscular disorder. What progress has been made in understanding its genetic basis, and what's the latest on treatment? Current Opinion in Neurology (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - November 28, 2014 Category: Consumer Health News Tags: Neurology & Neurosurgery Journal Article Source Type: news

'I planned my own funeral': Misdiagnosed mum celebrated her new lease of life
KARIN RODGERS thought she'd 'drawn the lucky straw' when doctors told her a Charcot Marie Tooth disease - rather than a rare, fatal condition - was causing her movement problems (Source: Daily Express - Health)
Source: Daily Express - Health - September 15, 2014 Category: Consumer Health News Source Type: news

Potential therapy for incurable Charcot-Marie-Tooth disease found
A potential new treatment approach for hereditary neurological disorder, the incurable Charcot-Marie-Tooth disease, has been found by researchers. Patients with Charcot-Marie-Tooth disease type 1A harbour an extra copy of the PMP22 gene which leads to the overproduction of the peripheral myelin protein 22 (PMP22), a key component of myelin. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - August 27, 2014 Category: Science Source Type: news

Potential therapy for incurable Charcot-Marie-Tooth disease
(Max-Planck-Gesellschaft) Researchers discover a new treatment approach for this hereditary neurological disorder. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - August 27, 2014 Category: Biology Source Type: news

Postural stabilization and balance assessment in Charcot-Marie-Tooth 1A subjects - Lencioni T, Rabuffetti M, Piscosquito G, Pareyson D, Aiello A, Di Sipio E, Padua L, Stra F, Ferrarin M.
The aim of the present study was to assess postural stabilization skill in adult subjects affected by Charcot-Marie-Tooth disease (CMT) type 1A. For this purpose ground reaction force (GRF) was measured by means of a piezoelectric force platform during the... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - August 8, 2014 Category: Global & Universal Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

Obstructive Sleep Apnea, RLS, and Charcot-Marie-ToothObstructive Sleep Apnea, RLS, and Charcot-Marie-Tooth
Fatigue is a major complaint of Charcot-Marie-Tooth patients. Could sleep apnea and restless leg syndrome be contributors? Journal of Neurology, Neurosurgery, and Psychiatry (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - March 7, 2014 Category: Consumer Health News Tags: Neurology & Neurosurgery Journal Article Source Type: news

Ascorbic Acid in Charcot-Marie-Tooth-1AAscorbic Acid in Charcot-Marie-Tooth-1A
It seems to work in mice, but is it futile to pursue the use of ascorbic acid to reduce neuropathy in humans? Medscape Neurology (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - September 16, 2013 Category: Consumer Health News Tags: Neurology & Neurosurgery Viewpoint Source Type: news

Zebrafish Study Offers Hope For Patients With Charcot Marie Tooth Disease
Scientists from the University of Sheffield have paved the way for new treatments for a common genetic disorder thanks to pioneering research on zebrafish - an animal capable of mending its own heart. Charcot Marie Tooth disease (CMT) is the most common genetic disorder affecting the nervous system. More than 20,000 people in the UK suffer from CMT, which typically causes progressive weakness and long-term pain in the feet, leading to walking difficulties. There is currently no cure for CMT... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - June 28, 2013 Category: Consumer Health News Tags: Genetics Source Type: news

Whole Genome Or Exome Sequencing: An Individual Insight
Focusing on parts rather than the whole, when it comes to genome sequencing, might be extremely useful, finds research in BioMed Central's open access journal Genome Medicine. The research compares several sequencing technologies in the same individual with Charcot-Marie-Tooth disease (CMT), and shows that sequencing the coding regions alone at high depth of coverage can identify the genetic variation behind this disease, and was also able to resolve previous ambiguities... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - June 27, 2013 Category: Consumer Health News Tags: Genetics Source Type: news

Genome vs. exome: Which works best?
Baylor College of Medicine researchers discovered that they could identify the genetic variation behind the genetic disease Charcot-Marie-Tooth disease by sequencing the exome. (Source: Baylor College of Medicine News)
Source: Baylor College of Medicine News - June 27, 2013 Category: Universities & Medical Training Source Type: news

Ascorbic Acid Ruled Out for Nerve Disorder (CME/CE)
(MedPage Today) -- Despite promising results in mice, high doses of ascorbic acid appear to have no benefit in people with Charcot-Marie-Tooth disease, an inherited neurodegenerative disorder, researchers reported. (Source: MedPage Today Neurology)
Source: MedPage Today Neurology - June 24, 2013 Category: Neurology Source Type: news

How Turning Down Synthesis Of A Protein Improves Nerve, Muscle Function In Common Neuropathy
A potential new treatment strategy for patients with Charcot-Marie-Tooth disease is on the horizon, thanks to research by neuroscientists now at the University at Buffalo's Hunter James Kelly Research Institute and their colleagues in Italy and England. The institute is the research arm of the Hunter's Hope Foundation, established in 1997 by Jim Kelly, Buffalo Bills Hall of Fame quarterback, and his wife, Jill, after their infant son Hunter was diagnosed with Krabbe Leukodystrophy, an inherited fatal disorder of the nervous system. Hunter died in 2005 at the age of eight... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - April 30, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news

Hitting 'reset' in protein synthesis restores myelination
(University at Buffalo) A potential new treatment strategy for patients with Charcot-Marie-Tooth disease is on the horizon, thanks to research by neuroscientists now at the University at Buffalo's Hunter James Kelly Research Institute and their colleagues in Italy and England. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 26, 2013 Category: Global & Universal Source Type: news

Charcot-Marie-Tooth DiseasesCharcot-Marie-Tooth Diseases
It's now understood that Charcot-Marie-Tooth isn't one disease, but several peripheral neuropathies arising from mutations in over 40 different genes. Does each variation have a distinct mechanism? Brain (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - February 4, 2013 Category: Consumer Health News Tags: Neurology & Neurosurgery Journal Article Source Type: news