Updates

February 14, 2019February 14, 2019
Study of Altered Mitochondrial Connections Could Offer Insight About CMT2A Severity

Mutations in the MFN2 gene are associated with altered connections between mitochondria and another cellular structure called endoplasmic reticulum (ER). These correlate with Charcot–Marie–Tooth ... Read more
February 12, 2019February 8, 2019
An Introduction to a New CMT Column: ‘On My Own Two,’ by Young Lee

Recently, my father sent me a copy of doctor’s notes he received in 1989. Those familiar with Charcot-Marie-Tooth disease (CMT) would recognize many of ... Read more
February 12, 2019February 12, 2019
Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions ... Read more
February 11, 2019February 7, 2019
I’m Using Essential Oils to Help with My Symptoms of Charcot-Marie-Tooth

The other day, I went to a class to learn about using essential oils. I know that these plant substances have health benefits and ... Read more
February 7, 2019February 7, 2019
FDA Grants Fast Track Designation to Pharnext’s PXT3003 for CMT1A

Pharnext‘s PXT3003 was granted fast track designation for Charcot-Marie-Tooth disease type 1A (CMT1A) by the U.S. Food and Drug Administration, the company announced. “We are pleased to ... Read more

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News

New Cell Model Sheds Light on MTMR13 Enzyme’s Role in Myelin Production in CMT4B2
February 5, 2019February 5, 2019
A new experimental model of Charcot-Marie-Tooth disease (CMT) type 4B2 sheds light on the role ...
CMT and Me - a Column by Jill Price, Columns

Is My CMT ‘Invisible’?
February 4, 2019January 31, 2019
I saw something about invisible disabilities the other day. To me, that means a ...
News

FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases
January 31, 2019January 31, 2019
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug ...
News

PMP22 Genetic Variant Causes Painful Peripheral Neuropathy in CMT Patients, Case Report Shows
January 31, 2019January 31, 2019
The T118M variant of the PMP22 gene can cause painful peripheral neuropathy in people ...
News

New Mutation in GARS Gene Linked to Autosomal Dominant CMT, Case Report Shows
January 29, 2019January 29, 2019
A new mutation in the GARS gene has been associated with autosomal dominant intermediate Charcot-Marie-Tooth disease (DI-CMT), ...
CMT and Me - a Column by Jill Price, Columns

The Things We Do for Family
January 28, 2019January 24, 2019
Over a year ago, my dear friend told me that she planned to get ...

Short-term PXT3003 Treatment Delays Disease Onset in Rat Model of CMT1A, Study Shows
January 24, 2019January 24, 2019
Two weeks of treatment with Pharnext’s PXT3003 delayed disease onset, corrected motor deficits, and improved dysregulated ...
Modulation of Specific Molecule May Help Treat Subtypes of CMT, Study Shows
January 22, 2019January 22, 2019
Modulation of Nrg1TIII signals improves production of the nerve cells’ myelin protective layer in ...
I Dread Walking on Slippery Ice in the Winter
January 21, 2019January 18, 2019
MRI-based Technique Enables Early Diagnosis of Sciatic Nerve Damage in CMT1 Patients, Study Reports
January 17, 2019January 17, 2019
Boy with Dropped Head Syndrome Broadens Spectrum of CMT4C Symptoms, Case Study Reports
January 15, 2019January 15, 2019
The Lessons I Learned in 2018
January 14, 2019January 10, 2019

Provocative Film Explores Love and Sexuality Among the Disabled
January 14, 2019January 14, 2019
Dozens of films have focused on those with diseases or disabilities — and there’s ...
Reduced Physical Activity Has Negative Effect on Children with CMT, Study Suggests
January 10, 2019January 10, 2019
CMT2S Patients May Benefit from Respiratory Surveillance, Case Report Shows
January 8, 2019January 8, 2019
I’m Thinking of Starting a Support Group
January 7, 2019January 3, 2019

Sarepta, Aldevron Partnering to Develop Gene Therapies for CMT, Other Rare Diseases
January 4, 2019January 4, 2019
Aldevron has signed a long-term agreement with Sarepta Therapeutics to provide the gene-transfer vehicles used in Sarepta’s ...
Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish
December 21, 2018December 21, 2018
Combination of Surgical Techniques Allows Correction of Cavovarus Foot in CMT Patients, Study Reports
December 19, 2018December 19, 2018

CMT and Me - a Column by Jill Price, Columns

How I Handle the Holiday Stress
December 17, 2018December 14, 2018
Holidays and stress seem to go hand in hand! The shopping, cooking, and travel ...
News

Researchers Develop, Validate New Scale to Assess CMT Severity in Very Young Children
December 12, 2018December 12, 2018
Researchers have developed a new scale to assess disease severity in infants with Charcot-Marie-Tooth disease ...
CMT and Me - a Column by Jill Price, Columns

Myths and Facts About Charcot-Marie-Tooth
December 10, 2018December 7, 2018
I was telling a new doctor that I have Charcot-Marie-Tooth (CMT) disease, and he ...
News

FDA Grants Experimental Therapy ACE-083 Fast Track Status for CMT
December 7, 2018December 7, 2018
Investigational therapy ACE-083 was granted fast track designation for Charcot-Marie-Tooth disease (CMT) by the ...
CMT and Me - a Column by Jill Price, Columns

Tips to Make Traveling Easier
December 3, 2018November 29, 2018
As the holiday season approaches, so does the opportunity to travel. However, traveling with ...
News

Modeling of MFN2 Protein Mutations’ Effects May Predict CMT Type 2A’s Severity
November 28, 2018November 28, 2018
Molecular simulations of the effects of specific mutations in the structure of mitofusin 2 ...

September 22, 2017September 22, 2017

Despite Functional Limitations, Few CMT Patients Receive Physical and Occupational Therapy

News

Most people with Charcot-Marie-Tooth (CMT) disease do not receive physical or occupational therapy, despite having extensive problems with physical functioning that limit mobility and quality of life, according to a report presented at the American Association of Neuromuscular & ... Read more

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