New Diagnosis? Start Here

News and Stories

RSS

April 9, 2018

Subcellular compartmentalization of MBNL1 plays a key role in regulation of neurite differentiation and its disruption may contribute to CNS defects in DM.

April 9, 2018

The National Human Genome Research Institute has issued new funding opportunities for research targeted using a patient’s genomic information to inform clinical care.

April 9, 2018

When the 11th meeting of the International Myotonic Dystrophy Consortium (IDMC-11) met in San Francisco in September 2017, Dr. Giovanni Meola was in attendance, as he has been since the first biennial meeting in Paris, France, in 1997.

March 6, 2018

MDF is bidding a very fond farewell to John Porter, PhD, as MDF’s Chief Science Officer, and bidding a very warm hello to Elizabeth (Lisa) Ackermann, PhD.

March 6, 2018

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.

March 6, 2018

As Matthew Brown listened to his cousin Emily describe the symptoms that led to doctors diagnosing her with having multiple sclerosis, he grew concerned. The problems she described—an inability to relax her hand, a freezing of her tongue that made it impossible to talk at times, and gastrointestinal issues—were the same ones he had been experiencing.

February 12, 2018

Chimeric proteins elucidate mechanisms of MBNL binding and regulation of alternative splicing, and suggest a path to optimize therapeutic strategies for DM.

February 12, 2018

Conceptually sound strategies exist to repair or replace defective genes that cause disease—what will it take to ensure these are safe and effective?

Partners

© Myotonic Dystrophy Foundation. All rights reserved.