Paramyotonia CongenitaSymptoms, Doctors, Treatments, Advances & More
Learn About Paramyotonia Congenita
Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements.
Mutations in the SCN4A gene cause paramyotonia congenita. This gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged atoms (ions), including sodium, into skeletal muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells.
Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many 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 Paramyotonia Congenita. 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.
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 Paramyotonia Congenita. 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.
OSF Illinois Neurological Institute - Neurology
Gregory Blume is a Neurologist practicing medicine in Peoria, Illinois. Dr. Blume is rated as a Distinguished provider by MediFind in the treatment of Paramyotonia Congenita. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Paramyotonia Congenita, Myotonic Dystrophy Type 2, and Myotonic Dystrophy. Dr. Blume is board certified in American Board Of Psychiatry And Neurology.
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: August 01, 2015
Published By: National Institutes of Health