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 able to let go of a toy right away after they grasp it. Myotonia congenita begins in …

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 failure of initiated contraction to terminate, often referred to as delayed relaxation of …

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 early childhood, but symptoms can be mild.

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 contraction. MC has many implications for patients and their families, including impaired locomotion, swallowing, gastrointestinal disturbance, and respiratory complications.

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 (hyperexcitability).

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 involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic.

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 myotonia congenita? The main problems faced by people with this disease are delayed muscle relaxation and muscle stiffness, typically provoked by sudden movements after rest.

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 tensing (myotonia) that prevent muscles from relaxing normally.

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 manifestations. Diagnosis is by electromyography and sometimes muscle biopsy.

Mar 31, 2024 · Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth. It occurs more frequently in northern Scandinavia.