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Congenital myotonia
- ... to distinguish the two forms of myotonia congenita. Congenital myotonia Genetic Testing Registry: Congenital myotonia, autosomal dominant form Genetic Testing Registry: Congenital myotonia, ...
- Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present ... Myotonia congenita is caused by a genetic change (genetic variant). It is passed down from either one or ...
- Myotonia Congenita (National Institute of Neurological Disorders and Stroke)Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Myotonia ...
- ... CLCN1 gene have been identified in people with myotonia congenita. Most of these mutations cause the autosomal recessive ... mutations also cause the autosomal dominant form of myotonia congenita, which is known as Thomsen disease. Autosomal dominant ...
- Neuromuscular Disorders (National Library of Medicine)Neuromuscular disorders affect your neuromuscular system. They can cause problems with: The nerves that control your muscles Your muscles Communication between your ...
- Muscle Disorders (National Library of Medicine)Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle ...
- Pregnancy and Childbirth with Neuromuscular Disease (Muscular Dystrophy Association) - PDFNeuromuscular Disorders/Women ... Neuromuscular Disorders ... Muscular Dystrophy Association ... PDF
- Find a Neuromuscular Disease (Muscular Dystrophy Association)Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...
- ... to late adulthood. Affected individuals typically have mild myotonia and cataracts. Congenital myotonic dystrophy is often apparent at birth. Characteristic ...
- ... underlie the muscle stiffness characteristic of potassium-aggravated myotonia. More About This Health Condition MedlinePlus Genetics provides information about Congenital myasthenic syndrome More About This Health Condition Na( ...