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MDF Publishes First-ever CDM and DM2 Clinical Care Recommendations

SAN FRANCISCO, CA (May 2, 2019): The Myotonic Dystrophy Foundation (MDF) is pleased to announce the publication of the first-ever Consensus-based Care Recommendations for Congenital and Childhood-onset Myotonic Dystrophy Type 1 and Myotonic Dystrophy Type 2.

Annual Nationwide Children’s Hospital/OSU Myology Course

Nationwide Children’s Hospital and Ohio State University have operated a 5-day myology training course for the last seven years.  The course includes common lectures in the mornings and separate clinical and laboratory tracks in the afternoons.

New Research Study on Cognitive Function and Neuroimaging CDM

Dr. Melissa Dixon at the University of Utah Department of Pediatrics is conducting a study to learn more about how congenital myotonic dystrophy (CDM) and childhood-onset myotonic dystrophy affect thinking, memory, attention, brain function, and how these processes change over time.

Speech Disorders in Congenital and Childhood DM1

Speech disorders (dysarthria) in CDM and childhood-onset DM1 have long been recognized and surveillance by speech and language therapists is an important aspect of patient care. Facial weakness and myotonia, and involvement of oral cavity, palatopharyngeal and respiratory muscles, are known to contribute to speech impairment.

Comorbidity of Childhood DM1 and Autism?

After a new review of the literature, the question of comorbidity of childhood DM1 and autism spectrum remains an open one.

Toward ‘Responsive’ Outcome Measures for DM1

Discovery of the holy grail for DM therapy development-- drug registration endpoints -- lies in the dogged pursuit and sharing of natural history data.

GSK3β as a Drug Development Target for DM1

A new study examines the role of the GSK3β—cyclin D3—CUGBP1 pathway in the pathogenesis of DM1 and its potential as a therapeutic target.

A Tool for Evaluating Drugs Targeting MBNL

Development of a mini gene tool facilitates the identification of candidate therapeutics targeted at dissociating MBNL from expanded CUG repeats.

Know Your DM1 Repeat Length: It’s Important for Your Cardiac Care

Understanding cardiac and other DM risk factors and planning for the known complications of DM that may affect you can help protect and maintain your quality of life and that of your loved ones.

DM1 Genotype and Cardiac Phenotype

A large retrospective study helps clarify genotype-cardiac phenotype relationships in adult DM1.

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