Learn About Myotonic Dystrophy
Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.
Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The protein produced from the DMPK gene likely plays a role in communication within cells. It appears to be important for the correct functioning of cells in the heart, brain, and skeletal muscles (which are used for movement). The protein produced from the CNBP gene is found primarily in the heart and in skeletal muscles, where it helps regulate the function of other genes.
Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The prevalence of the two types of myotonic dystrophy varies among different geographic and ethnic populations. In most populations, type 1 appears to be more common than type 2. However, recent studies suggest that type 2 may be as common as type 1 among people in Germany and Finland.
Both types of myotonic dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
Penn Neuroscience Center - Neurology
Lauren Elman is a Neurologist in Philadelphia, Pennsylvania. Dr. Elman is rated as an Elite provider by MediFind in the treatment of Myotonic Dystrophy. Her top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Myotonic Dystrophy, and Myotonic Dystrophy Type 2. Dr. Elman is currently accepting new patients.
Duke Primary Care Brier Creek
Michele Nacouzi is a primary care provider, practicing in Family Medicine in Raleigh, North Carolina. Dr. Nacouzi is rated as an Advanced provider by MediFind in the treatment of Myotonic Dystrophy. Her top areas of expertise are Myotonic Dystrophy, Myotonic Dystrophy Type 2, Sitosterolemia, and Paramyotonia Congenita. Dr. Nacouzi is currently accepting new patients.
Giovanni Meola practices in Milan, Italy. Mr. Meola is rated as an Elite expert by MediFind in the treatment of Myotonic Dystrophy. His top areas of expertise are Myotonic Dystrophy Type 2, Paramyotonia Congenita, Myotonic Dystrophy, Amyotonia Congenita, and Thymectomy.
Summary: The primary purpose of the study is to evaluate the safety and tolerability of multiple intravenous (IV) doses of DYNE-101 administered to participants with Myotonic Dystrophy Type 1 (DM1). The study consists of 4 periods: A Screening Period (up to 8 weeks), a Placebo-Controlled Period (24 weeks), a Treatment Period (24 weeks) and a Long-Term Extension (LTE) Period (168 weeks) in both multiple-asc...
Summary: The purpose of the study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-670 at different single and multiple doses in participants with DM1.
Published Date: July 01, 2020
Published By: National Institutes of Health