WebTwo main forms of myotonia congenita have been described: Thomsen disease and Becker disease. In Thomsen disease, symptoms and findings are usually apparent from infancy … WebNM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) AND Congenital myotonia, autosomal dominant form. Clinical significance: Pathogenic (Last evaluated: May 12, 2024)

Myotonia congenita - an overview ScienceDirect Topics

WebHeinrich Mattle, Marco Mumenthaler WebThe protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. facility and equipment used in arnis

Myotonia Congenita (Thomsen Disease and Becker Type)

WebAutosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. WebThe two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their … WebNov 1, 2024 · Myotonia congenita (MC), which contributed 75% of non-dystrophic myotonia ( 1 ), is characterized by delayed muscle relaxation after voluntary or evoked contraction. According to different inheritance pattern, MC is divided into its dominant form Thomsen's disease (OMIM 160800) and recessive form Becker's disease (OMIM 255700). facility and circumvention render contracnt