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.
Care Tools Articles
To develop new therapies for patients living with myotonic dystrophy (DM), specific infrastructure and information needs to be in place to make clinical trials feasible. The information needed for CDM trials is likely to be different than that used for adult trials.
A new study points to the timing of MBNL-dependent RNA processing defects as a major factor in the pathogenesis of CDM.
Epigenetic modifications upstream of an expanded DMPK allele may underlie the maternal bias in the inheritance of CDM.
Dr. Dixon at the University of Utah has been awarded a 2016-2017 postdoctoral fellowship for her research applying fMRI to evaluate connectivity networks in the brains of children with congenital-onset myotonic dystrophy (CDM). Read more here about the work of Dr. Dixon and her colleagues.
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New research on the impact of the mother's age on congenitally affected offspring.
To support our commitment to DM research, MDF awards fellowship grants to postdoctoral researchers as part of our annual Fund-A-Fellow (FAF) program. We recently caught up with one of our current grant recipients, Dr. Nicholas Johnson, Assistant Professor of Neurology at the University of Utah.
Nicholas Johnson, MD, and researchers at the University of Rochester recently published an article in The Journal of Child Neurology that describes the impact of childhood and congenital myotonic dystrophy on quality of life.