Thinking About CMT and My Handwriting
A few years ago at a previous job, a co-worker confessed to me that she used to think I was a bit gross because ... Read more
Updates
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Stroke-like Symptoms May Indicate CMTX1, Case Series Suggests
Stroke-like symptoms and mild cognitive impairment are among non-specific symptoms that may suggest X-linked Charcot-Marie-Tooth type 1 (CMTX1), a case series shows. The series, “GJB1 ... Read more -
Recurrent Stroke-Like Symptoms, Abnormal Brain MRI Findings May Signal CMTX1 in Women, Case Report Says
X-Linked Charcot-Marie-Tooth Type 1 (CMTX1) should be considered in the differential diagnosis of women experiencing recurring stroke-like symptoms, such as slurred speech and limb ... Read more -
FDA Efforts to Bring Patients into Treatment Decisions Focus of NORD Webinar
The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. ... Read more -
I’m Alive and I Don’t Want to YOLO It Away
When I was in college, YOLO — the acronym for “you only live once” — became popular. I think it was supposed to be ... Read more
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New Gene Testing Tools Like WES Help in Diagnosing Rarer CMT Subtypes, Case Series Reports
New genetic technologies like whole-exome sequencing can be used to more quickly diagnose specific subtypes of ... -
Exercise Is Good for Us, So Let’s Get Moving!
“Movement is medicine.” I have heard this saying a few times, and I wondered ... -
With Post-Brexit Move to Amsterdam Complete, EMA Renews Rare Disease Focus
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan ... -
From Care Centers to Research Awards and Summer Camp, MDA Leads in Helping Others
With about $18 million expected to be awarded in 2020 in grants supporting research ... -
New GJB1 Mutation Cause of X-linked CMT in Chinese Family, Study Finds
Researchers identified a mutation in the GJB1 gene as the genetic cause of X-linked Charcot-Mariee-Tooth ... -
Daddy Taught Me These Lessons About Life and CMT
“Why does your dad walk like that?” a friend once asked me. At the ...
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