To develop new therapies for patients living with myotonic dystrophy (DM), specific “infrastructure” needs must be addressed—this infrastructure makes clinical trials feasible. It is essential to understand how a disease manifests and progresses in a cohort of patients that is sufficiently large and representative to provide confidence in the findings. This understanding, in turn, allows the design and validation of outcome measures that are sufficiently sensitive, reliable, valid and responsive to show whether a candidate therapy is effective or not.
Care Tools Research
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.
Steven and Kelly Bormann are kicking off the new year with their 2nd Annual Poker and Paint Party February 20th in Lenexa, Kansas to raise DM awareness and funds in honor of their late daughter, Anna. To join the Paint and Poker Party fun in person, please click here.
Juvenile Onset Adults (JOAs) and their caregivers face unique challenges when it comes to living with DM. Check out the latest blog post for valuable tips and compassionate insight from families caring for JOAs.
www.bridgingapps.org - a program and website of Easter Seals Greater Houston that provides resources, education, and information on apps and mobile devices to help people with disabilities target and improve skills and reach their highest
To find out more information about art therapy, or to find a referral to an art therapist near you, check out www.arttherapy.org locate your local art therapy chapter and request an art therapy referral.
Community members discuss daily living strategies for motivating their adult children living with juvenile-onset DM1.
Community members Penni Warford, Sarah Clarke and Ann Spaulding discuss best practices for planning and implementing your child's Individualized Education Plan.
Dr. Craig Campbell, MD, of Western University in Ontario, Canada, has a discussion with audience members about congenital DM.
Community-led session led by Sarah Berman, Erica Kelly, and Catherine Wycoff, DPT, GCFP, ABMCP. Parents of children living with DM and a hippotherapy specialist discuss the benefit that this type of therapy can often have.
Community-led session presented by Diane Bade, Chuck Hunt, and Larry Lord. Parents of adults living with juvenile-onset DM discuss the challenges specific to this group.
- Failure of cerebral respiratory control, which may result in fetal distress
- Pulmonary immaturity, which may be further complicated by premature birth
- Intellectual impairment due to potentially severe intellectual disability. Speech abnormalities, dysmorphic facial appearance, and lack of facial expression can make mild or normal cognitive impairment appear more marked.
- Pulmonary hypertension and cor pulmonale
- Cardiomyopathy in rare cases
- Normal or slightly delayed early motor development
- Facial and neck muscle problems, typically without the facial appearance that is associated with the congenital form
- Lower than normal fetal movement
- Buildup of fluid (edema) in fetus organs and tissues (hydrops fetalis)
- Increased amniotic fluid in mother (polyhydramnios). Breech position, placental abruption, and umbilical cord prolapse may result.
- Accumulation of amniotic fluid in the mother caused by reduced ingestion of amniotic fluid by the fetus (polyhydramnios)
Join the Myotonic Dystrophy Family Registry; you could win an iPad!
New research on the impact of the mother's age on congenitally affected offspring.
Both DM1 and DM2 are passed from parent to child by autosomal dominant mutations. This means that the faulty gene is located on one of the chromosomes that does not determine sex (autosome) and that one copy of the mutated gene is enough to cause the disease (dominant).
This webinar is presented by a group of mothers offering their knowledge and experience raising children with congenital DM. This webinar includes informed, practical suggestions from alleviating gastro-intestinal challenges with proper diet and natural supplements to advocating for your child's Individualized Education Program (IEP).
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.
An MDF community member and mother describes the medical team she has assembled for her daughter, Kate.
Jacinda Sampson, M.D., Ph.D., University of Utah School of Medicine