A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia, and intermittent muscle weakness since childhood. The serum level of creatine kinase was mildly elevated and short exercise test with cooling revealed a drastic reduction of compound ...

This article is dedicated to our teacher, Prof. Erich Kuhn, Heidelberg, on the occasion of his 88th birthday on 23rd November 2008. In contrast to muscular dystrophies, the muscle channelopathies, a group of diseases characterised by impaired muscle excitation or excitation-contraction coupling, can fairly well be treated with a whole series of pharmacological drugs. However, for a proper treat...

Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) gene. This study intended to systematically identify the causative genetic variations of a Chinese...

Myotonia congenita is a disorder of the relaxation of skeletal muscle in man. The disease is not accompanied by muscular wasting, and is analogous to a disorder in goats (Kolb, 1938; Brown and Harvey, 1939). The affected muscles both of man and goat show similar abnormalities when examined by histological and electromyographic methods. Myotonia becomes apparent during activity after a period of...

Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1). Mutations of CLCN1 result in either autosomal dominant MC (Thomsen disease) or autosomal recessive MC (Becker disease). The ClC-1 protein is a homodimer with a separate ion pore within each monomer. Mutations causing recessi...

The physical examination always begins with a thorough inspection and patients with potential neuromuscular weakness are no exception. One question neurologists routinely address during this early part of the assessment is whether or not there is muscle enlargement. This finding may reflect true muscle hypertrophy-myofibres enlarged from repetitive activity, for example, in myotonia congenita o...

Despite continuing controversy, it is widely assumed that children with known or suspected myopathies are at increased risk for malignant hyperthermia (MH) (1). Previous reports have suggested a relationship between MH risk and a variety of neuromuscular disorders including Duchenne type muscular dystrophy (DMD), osteogenesis imperfecta, myotonia congenita, the Schwartz-Jampel syndrome, and oth...