Myotonic DystrophySymptoms, Doctors, Treatments, Advances & More
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.
Office
Laurie Gutmann is a Neurologist practicing medicine in Indianapolis, Indiana. Dr. Gutmann is rated as an Elite provider by MediFind in the treatment of Myotonic Dystrophy. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Paramyotonia Congenita, Myotonic Dystrophy Type 2, Myotonic Dystrophy, and Charcot-Marie-Tooth Disease.
Penn Neuroscience Center - Neurology
Lauren Elman is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Elman is rated as an Elite provider by MediFind in the treatment of Myotonic Dystrophy. She is also highly rated in 48 other conditions, according to our data. Her clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Myotonic Dystrophy Type 2, and Myotonic Dystrophy. Dr. Elman is currently accepting new patients.
Clinical Research Center
Jeffrey Statland is a Neurologist practicing medicine in Fairway, Kansas. He has been practicing medicine for over 21 years. Dr. Statland is rated as an Elite provider by MediFind in the treatment of Myotonic Dystrophy. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses Facioscapulohumeral Muscular Dystrophy (FSHD), Paramyotonia Congenita, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, and Gastrostomy. Dr. Statland is board certified in American Board Of Psychiatry And Neurology, Neurology - 2011. Dr. Statland is currently accepting new patients.
Summary: The goal of this study is to investigate the effects of personalized exercise treatment on dynamic balance and physical function in comparison with regular follow-up in adults with rare-neuromuscular disorders: Charcot-Marie-Tooth (CMT), Facioscapulohumeral Muscular Dystrophy (FSHD), and Myotonic Dystrophy Type 1 (DM1). The key objectives are: 1. To investigate if the intervention group experience...
Summary: Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological understanding of the phenotypic heterogeneity of Myotonic Dystrophy 1 by examining strategies to improve the reliability by making further refinements in o...
Published Date: July 01, 2020
Published By: National Institutes of Health