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Preview: MedWorm: Charcot-Marie-Tooth Disease

MedWorm: Charcot-Marie-Tooth Disease News



MedWorm.com provides a medical RSS filtering service. Thousands of medical RSS feeds are combined and output via different filters. This feed contains the latest news in Charcot-Marie-Tooth Disease



Last Build Date: Thu, 08 Feb 2018 17:49:53 +0100

 



Cheryl's appeal for friend ’s son suffering from CMT

Mon, 25 Sep 2017 12:42:29 +0100

Fans praised the star, 34, for raising awareness of a Charcot-Marie-Tooth (CMT) disease. She did not identify the pal whose child has the progressive condition that can cause muscle weakness. (Source: the Mail online | Health)

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Charcot-Marie-Tooth disorder: I grew up being told I was lazy and useless

Tue, 19 Sep 2017 12:03:27 +0100

ROSE Brewis was an adult before she discovered she had progressive muscle-wasting disease CMT which affects thousands in the UK. (Source: Daily Express - Health)



Mother has a rare condition that is making her feet shrink

Thu, 31 Aug 2017 23:00:46 +0100

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)



Falkirk son inherits Charcot-Marie-Tooth disease like dad

Thu, 31 Aug 2017 12:19:08 +0100

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)



Pain and fatigue could be symptoms of THIS incurable neurological condition

Wed, 16 Aug 2017 11:22:00 +0100

CHARCOT-MARIE-TOOTH is a neurological, incurable condition which can cause symptoms including uncontrollable pain and chronic fatigue. (Source: Daily Express - Health)



Acceleron begins dosing in Phase II trial of ACE-083 to treat CMT

Tue, 01 Aug 2017 23:00:00 +0100

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)

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3-D prints used to compare effectiveness of top surgical techniques for repairing heel deformity

Mon, 17 Apr 2017 04:00:00 +0100

(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)



Pharnext begins Phase III extension trial of PXT3003 to treat type 1A CMT

Mon, 20 Mar 2017 00:00:00 +0100

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)



MDA and CMTA fund grant to study gene therapy in charcot-marie-tooth disease

Fri, 17 Mar 2017 04:00:00 +0100

(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)



Pharnext completes patient enrolment in Phase lll trial of PXT3003 to treat CMT1A

Wed, 21 Dec 2016 00:00:00 +0100

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)



BioPontis Alliance for Rare Diseases and VIB announce partnership on rare diseases

Fri, 02 Sep 2016 04:00:00 +0100

(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)

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NIH grant will fund new JAX Resource for Research of Peripheral Neuropathy

Wed, 17 Aug 2016 04:00:00 +0100

(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)



What Do You Do When a Child Wants to Die?

Tue, 05 Jul 2016 20:33:10 +0100

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 conversations At Arnold Palmer Hospital for Children in Orlando, Florida, Dr. Blaine B. Pitts, F.A.A.P., often encounters families with children who might die from their diseases. ...



NYSCF and CMTA announce largest-ever research resource for neuropathy disorders

Tue, 21 Jun 2016 04:00:00 +0100

(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)



Mystery of disease behind Andrew Wyeth's Christina's World is solved

Fri, 06 May 2016 18:22:43 +0100

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)



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

Fri, 06 May 2016 14:00:58 +0100

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)

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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

Mon, 25 Apr 2016 13:13:33 +0100

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)



Researchers identify new cause of inherited neuropathy

Wed, 23 Mar 2016 22:56:57 +0100

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)



Penn researchers identify a new cause of inherited neuropathy

Wed, 23 Mar 2016 04:00:00 +0100

(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)



What Are the Clinical Presentation of Charcot-Marie-Tooth Disease?

Mon, 16 Nov 2015 00:10:22 +0100

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 as new testing becomes available but currently is classified as: CMT1 Most common variant of CMT (70%) Autosomal dominant Has different subgroups but the most common s...



Targeting mutant proteins might be silver bullet for neurodegenerative diseases

Wed, 21 Oct 2015 17:56:26 +0100

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)

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Pioneering DNA treatment helps IVF baby be born free from genetic disease

Sun, 17 May 2015 18:25:13 +0100

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)



Visualizing Directional Rab7 and TrkA Cotrafficking in Axons by pTIRF Microscopy

Thu, 26 Mar 2015 04:39:57 +0100

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 signaling in neurons. However, tracking the axonal transport of Rab7 and TrkA with conventional microscopy and assigning the transport directionality in mass neuronal culture...



Overwork Weakness Relevance in Charcot-Marie-Tooth DiseaseOverwork Weakness Relevance in Charcot-Marie-Tooth Disease

Wed, 21 Jan 2015 08:24:31 +0100

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)



Baclofen-Naltrexone-Sorbitol for Charcot-Marie-Tooth DiseaseBaclofen-Naltrexone-Sorbitol for Charcot-Marie-Tooth Disease

Tue, 30 Dec 2014 15:41:38 +0100

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)



Pharnext drug shows promise in neurological disease with no treatment

Thu, 18 Dec 2014 01:00:44 +0100

(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)

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Recent Advances in Charcot-Marie-Tooth DiseaseRecent Advances in Charcot-Marie-Tooth Disease

Fri, 28 Nov 2014 17:00:00 +0100

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)



'I planned my own funeral': Misdiagnosed mum celebrated her new lease of life

Mon, 15 Sep 2014 17:02:00 +0100

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)



Potential therapy for incurable Charcot-Marie-Tooth disease found

Wed, 27 Aug 2014 15:19:36 +0100

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)



Potential therapy for incurable Charcot-Marie-Tooth disease

Wed, 27 Aug 2014 04:00:00 +0100

(Max-Planck-Gesellschaft) Researchers discover a new treatment approach for this hereditary neurological disorder. (Source: EurekAlert! - Biology)



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.

Fri, 08 Aug 2014 01:01:31 +0100

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))

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Obstructive Sleep Apnea, RLS, and Charcot-Marie-ToothObstructive Sleep Apnea, RLS, and Charcot-Marie-Tooth

Fri, 07 Mar 2014 05:30:35 +0100

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)



Ascorbic Acid in Charcot-Marie-Tooth-1AAscorbic Acid in Charcot-Marie-Tooth-1A

Mon, 16 Sep 2013 16:05:11 +0100

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)



Zebrafish Study Offers Hope For Patients With Charcot Marie Tooth Disease

Fri, 28 Jun 2013 08:00:00 +0100

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)



Whole Genome Or Exome Sequencing: An Individual Insight

Thu, 27 Jun 2013 07:00:00 +0100

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)



Genome vs. exome: Which works best?

Thu, 27 Jun 2013 05:00:00 +0100

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)

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Ascorbic Acid Ruled Out for Nerve Disorder (CME/CE)

Mon, 24 Jun 2013 20:00:00 +0100

(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)



How Turning Down Synthesis Of A Protein Improves Nerve, Muscle Function In Common Neuropathy

Tue, 30 Apr 2013 07:00:00 +0100

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)



Hitting 'reset' in protein synthesis restores myelination

Fri, 26 Apr 2013 04:00:00 +0100

(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)



Charcot-Marie-Tooth DiseasesCharcot-Marie-Tooth Diseases

Mon, 04 Feb 2013 04:00:00 +0100

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)