@DM1research

Focused on myotonic dystrophy type 1. My use of twitter/X is not an endorsement of the ninny who owns it. Follow me on Bluesky, https://xitter.cf/t.co/HrlGRPWgJw

Joined May 2013
  • Tweets2.8K
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  • Followers801
129Media
If you or a family member have myotonic dystrophy, the #1 thing you can do to help researchers develop an effective treatment is to enroll in the END-DM1 natural history study. Details here: clinicaltrials.gov/ct2/show/…
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Italian study: The cognitive-behavioral missing link in myotonic dystrophy type 1: Rethinking social cognition assessment journals.sagepub.com/doi/10.…

The cognitive-behavioral missing link in myotonic dystrophy type 1: Rethinking social cognition...

Background Myotonic dystrophy type 1 (DM1) is associated with central nervous system involvement and cognitive–behavioral alterations, including deficits in soc...

journals.sagepub.com
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PR: Sarepta Therapeutics Presents New Preclinical Data Demonstrating Robust Knockdown of Pathogenic DMPK RNA in the Nucleus with SRP-1003 in DM1 at 2026 Oligonucleotide Therapeutics Society Annual Meeting finance.yahoo.com/healthcare…

Sarepta Therapeutics Presents New Preclinical Data Demonstrating Robust Knockdown of Pathogenic...

CAMBRIDGE, Mass., October 14, 2026--Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today presented new preclinical data at the 22nd Annual...

finance.yahoo.com
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Physical therapy professor Michael Kiefer awarded NIH Career Development Award to advance pediatric muscle disease research news.vcu.edu/article/physica…

Physical therapy professor Michael Kiefer awarded NIH Career Developme

Kiefer will use the funding to support vital work to advance clinical trials for children with congenital myotonic dystrophy, a disease characterized by low muscle tone and difficulty breathing.

news.vcu.edu
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Bunch of abstracts on myotonic dystrophy presented at World Muscle Society Conference Sept. 29-Oct. 3. Can search for full text of abstracts at link below. Will post some of titles in comments. nmd-journal.com/action/doSea…
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DM1Research retweeted
Brain@Brain1878Oct 13
In an analysis of almost one million genomes, Rahman et al. find that myotonic dystrophy type 1 is more common than previously recognised, with pathogenic DMPK repeat expansions present in about 1 in 1,500 people. shorturl.at/it6Ka
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UK study: The genetic landscape of myotonic dystrophy type 1: insights from nearly one million genomes. sciencedirect.com/science/ar…
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"pathogenic DMPK repeat expansions were identified in 645 individuals (0.07%; ∼1 in 1,527), a prevalence two-to-five times higher than previous estimates."
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In comparison, U.S. analysis using blood spots from newborn screening found "DM1 prevalence of 4.76 per 10,000 births (95%CI 2.86, 6.67) or 1 in every 2,100 births." researchgate.net/publication…

Population Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of State-wide Blood...

Request PDF | Population Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of State-wide Blood Screening Program | Objective To determine whether the genetic prevalence of the CTG...

researchgate.net
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Quebec/SUNY Albany/$VRTX study: Three-Year Longitudinal Analysis of Splicing Changes in Myotonic Dystrophy Type 1 biorxiv.org/content/10.64898…

Three-Year Longitudinal Analysis of Splicing Changes in Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion in the 3′ untranslated region of the DMPK gene that results in the expression of expanded CUG RNA which trap splicing factors resulting in...

biorxiv.org
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Serbian study: Sex-related phenotypic differences in myotonic dystrophy types 1 and 2: a nationwide registry study from Serbia link.springer.com/article/10…

Sex-related phenotypic differences in myotonic dystrophy types 1 and 2: a nationwide registry study...

Journal of Neurology - Myotonic dystrophies (DM) are autosomal dominant, multisystem disorders with variable clinical expressions. DM1 and DM2 share overlapping features, such as myotonia and...

link.springer.com
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"Greater neuromuscular burden was seen in DM1 males and DM2 females. On the other hand, male patients generally exhibit more cardiologic and endocrinological/metabolic burden in both DM1 and DM2."
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