Characteristics of Nondystrophic Myotonias
Nondystrophic myotonias (NDM) are muscle disorders caused by genetic abnormalities in certain muscle cell membrane proteins. Individuals with NDM experience limited muscle relaxation, which causes pain, weakness, and impaired physical activity. The purpose of this study is to better characterize the clinical features and symptoms of NDM.
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study|
- Examine the frequency applicable events related to Nondystrophic Myotonia [ Time Frame: Baseline - 3 yrs ] [ Designated as safety issue: No ]We will measure by an interactive voice response to measure stiffness, pain, weakness, and fatigue.
Biospecimen Retention: Samples With DNA
|Study Start Date:||February 2006|
|Study Completion Date:||September 2012|
|Primary Completion Date:||September 2012 (Final data collection date for primary outcome measure)|
Nondystrophic myotonias are muscle disorders caused by abnormal muscle cell membrane proteins that affect the control of muscle fiber contraction. These disorders are extremely rare, and little is known about how to best treat the various subtypes of NDM. The purpose of this study is to characterize the clinical features and symptoms of NDM as well as to pair this data with specific NDM subtypes. In turn, this may lead to the development of improved treatments. The study will also establish clinical endpoints for use in future studies.
This multi-center observational study will involve both a cross-sectional data analysis and a prospective longitudinal analysis. Participants will initially attend a one-day outpatient study visit. Various baseline measurements will be collected, including demographics, medical history, and quality of life measures. Blood samples will be taken to evaluate laboratory values and genetic factors. Participants will undergo manual muscle testing (MMT), clinical myotonia assessments, and functional movement assessments. Routine nerve conduction studies and electromyography (EMG) will also be performed in order to test for the presence of myotonia in specific muscles. Annual follow-up evaluations will occur 1 and 2 years following the first study visit.
|United States, Kansas|
|University of Kansas Medical Center, Department of Neurology|
|Kansas City, Kansas, United States, 66160|
|United States, Massachusetts|
|Brigham & Women's Hospital, Department of Neurology|
|Boston, Massachusetts, United States, 02115|
|United States, New York|
|University of Rochester School of Medicine and Dentistry, Department of Neurology|
|Rochester, New York, United States, 14642|
|United States, Texas|
|University of Texas Southwestern Medical Center|
|Dallas, Texas, United States, 75390-9036|
|London Health Sciences Centre, University Hospital|
|London, Ontario, Canada|
|Center for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology|
|London, United Kingdom, WC1N 3BG|
|Principal Investigator:||Richard Barohn, MD||University of Kansas|