Updates

July 1, 2020July 1, 2020
DTx Pharma Study Discovers Multiple Therapeutic Candidates for CMT1A

DTx Pharma has discovered new molecules that could be treatment candidates for Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A), reaching the second milestone of a ... Read more
June 26, 2020June 26, 2020
Problems with Mitochondria of Neurons May Underlie CMTX6, Study Finds

Problems with energy production and mitochondria, the powerhouses of cells, may be the underlying cause of an X-linked form of Charcot-Marie-Tooth disease (CMT) called ... Read more
June 23, 2020June 19, 2020
I Take Offense to the Ableist Jokes About President Trump

“TrumpWearsAdultDiapers”: It’s a hashtag I first noticed trending in the United States on the morning of June 14. And I remember looking at it ... Read more
June 23, 2020June 23, 2020
mTORC1 Overactivation Linked to CMT4B Myelin Defects, Early Study Shows

Mutations that cause Charcot-Marie-Tooth disease type 4B (CMT4B) lead to an increase in the activity of a protein called mTORC1 that is responsible for ... Read more
June 22, 2020June 19, 2020
Tips for Photography Enthusiasts with Disabilities

Recently, I joined a photography group for moms, and with them, I’ve been learning new techniques to feed my passion. However, there are times ... Read more

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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

Updates

DTx Pharma Study Discovers Multiple Therapeutic Candidates for CMT1A

Problems with Mitochondria of Neurons May Underlie CMTX6, Study Finds

I Take Offense to the Ableist Jokes About President Trump

mTORC1 Overactivation Linked to CMT4B Myelin Defects, Early Study Shows

Tips for Photography Enthusiasts with Disabilities

Subscribe to our mailing list

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

Hearing Difficulties in CMT Linked to Nerve Signaling Problems in Study

Pharnext Plans Final Trial to Support PXT3003 Approval for CMT1A

Copy Number Variations Helpful in Spotting Potential CMT Mutations

I’m Trying Not to Let Fear Limit Me

Changes in Sciatic Nerve of Thigh May Reflect Disability in CMT1a Patients

Coalition Will Address Racial Disparities in Rare Disease Communities

Disease in Family Traced to 2 Separate Mutations Working ‘in Tandem’

I’m Trying to Make Exercise Irresistible

New Mutation in PMP22 Gene Linked to Severe, Early-onset Form of CMT1A

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

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

For CMTers Like Me, It’s Important to ‘Just Keep Moving’

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

New MCM3AP Gene Mutation Linked to CMT in Chinese Girl

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

It’s Time to Be Gentler with Myself

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

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

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

Gaming Shouldn’t Only Benefit the Able-bodied

Yeast Model May Help Assess CMT4A Mutations

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

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

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

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

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