Jan 14, 2025 · Myotonia congenita is a rare genetic condition that causes myotonia. This prevents your muscles from relaxing properly after they contract. For example, your child might not be …

Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder. The hallmark of the disease is the …

Jul 19, 2024 · Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present from …

Aug 28, 2023 · Myotonia congenita (MC) is a genetic neuromuscular channelopathy which usually presents in early childhood resulting in a delay of skeletal muscle relaxation following …

Sep 17, 2007 · Myotonia congenita is a rare genetic disorder in which an abnormality of voluntary (skeletal) muscle fiber membranes causes an unusually exaggerated response to stimulation …

There are two types of myotonia congenita: Becker-type myotonia is the most common form, while Thomsen disease is a very rare, relatively mild form. What are the symptoms of …

Aug 3, 2005 · Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be …

Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle …

Feb 25, 2021 · Diagnosis/testing: The molecular diagnosis of myotonia congenita is established in a proband with suggestive findings of myotonia and sometimes muscle hypertrophy, and either …

Myotonia congenita is an inherited disorder causing muscle stiffness and hypertrophy beginning during childhood. There are 2 main types with different modes of inheritance and …