Charcot-Marie-Tooth News

May 29, 2020May 29, 2020

Pregnancy, Delivery Complications Not Higher in Women With CMT, Study Reports

Charcot-Marie-Tooth News

Women with Charcot-Marie-Tooth (CMT) disease do not have a higher rate of pregnancy or delivery complications than women who do not have the disease, a study has found. The study, ... Read more

May 22, 2020May 26, 2020

Gene Mutation Linked to CMT in Chinese Girl

Charcot-Marie-Tooth News

A newly identified mutation in the MCM3AP gene caused Charcot-Marie-Tooth disease (CMT) in a girl with early motor development delay, a study reports. Findings also suggest that mutations in this ... Read more

May 15, 2020May 15, 2020

CMT2 Subtypes Lead to Common Nerve Cell and Muscle Deficits, Worm Study Suggests

Charcot-Marie-Tooth News

Mutations in nine genes associated with Charcot-Marie-Tooth disease type 2 (CMT2) generally lead to similar deficits in muscle structure and function, as well as in motor neuron and muscle cell ... Read more

May 8, 2020May 8, 2020

Yeast Model May Help Assess CMT4A Mutations

Charcot-Marie-Tooth News

A yeast model could be used to assess the biological consequences of mutations in the GDAP1  gene, which can cause Charcot-Marie-Tooth type 4A (CMT4A). The model was described in “Pathogenic Effect ... Read more

April 29, 2020April 30, 2020

Industry leaders seek to advance innovative resources for rare and orphan disease communities amid COVID-19 outbreak

Charcot-Marie-Tooth News

FFF Enterprises and BioNews announced today that both rare and orphan disease advocates are joining forces to provide patients with resources to help them connect as a community and continue ... Read more

April 29, 2020June 1, 2020

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

Charcot-Marie-Tooth News, COVID-19 News

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their ... Read more

April 28, 2020April 28, 2020

Finding Comfort and Community in Gaming

Charcot-Marie-Tooth News

After about three weeks of most nonessential workers in my state self-isolating due to COVID-19, I began to see a steady stream of codes and screenshots appearing on my social ... Read more

April 20, 2020April 20, 2020

How Charcot-Marie-Tooth Is Helping Me Cope with the Pandemic

Charcot-Marie-Tooth News

In Virginia, we are entering our second month of social distancing. We have a long way to go, but we are learning to adjust. My state has been given the ... Read more

April 17, 2020April 17, 2020

Extended Protein Form Linked with Myelin Damage, May Underlie CMT, Mouse Study Finds

Charcot-Marie-Tooth News

A larger-than-normal version of myelin protein zero is associated with damage to myelin — the protective sheath covering nerve fibers — and may underlie the development of Charcot–Marie–Tooth (CMT) disease, a ... Read more

April 14, 2020April 14, 2020

Lessons from Bernadette to Help Us During the Quarantine

Charcot-Marie-Tooth News

During tough and stressful times, it’s important to remember to hold each other close. This time, though, let’s take that figuratively and not literally. A recent conversation with a Charcot-Marie-Tooth ... Read more

April 10, 2020April 10, 2020

Nerve Conduction Changes Not Linked to Quality of Life and Hand Function in CMT1A Patients, Study Says

Charcot-Marie-Tooth News

Muscle wasting and nerve conduction deficits are not associated with alterations in health-related quality of life (HRQoL) and hand function in people with Charcot-Marie-Tooth disease type 1A (CMT1A), a new ... Read more

April 7, 2020May 10, 2020

NORD’s Advice on COVID-19: You’re Stronger Than You Think

Charcot-Marie-Tooth News, COVID-19 News

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. ... Read more

April 3, 2020April 3, 2020

With $30M Investment, Regenacy Plans Phase 2 Trial Testing Ricolinostat for CMT Type 2

Charcot-Marie-Tooth News

Regenacy Pharmaceuticals received $30 million to help advance its lead candidate ricolinostat into Phase 2 studies for Charcot-Marie-Tooth (CMT) disease type 2, as well as diabetic and chemotherapy-induced peripheral neuropathy. ... Read more

April 2, 2020May 8, 2020

NORD’s Advice on COVID-19: You’re Stronger Than You Think

Charcot-Marie-Tooth News, COVID-19 News

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. ... Read more

March 27, 2020March 27, 2020

PXT3003 Designated Promising Innovative Medicine in UK for CMT1A Treatment

Charcot-Marie-Tooth News

The U.K.’s Medicines and Healthcare products Regulatory Agency (MHRA) has granted promising innovative medicine (PIM) designation to PXT3003 for the treatment of people with Charcot-Marie-Tooth type 1A (CMT1A) aged 16 and older. PIM designation ... Read more