Congenital myotonia
RSS feedOverview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Study of a large British series of patients with congenital myotonia confirms the value of functional genetic studies
Patients with non-dystrophic myotonia represent a very small contingent of individuals compared to all patients with myotonia. British clinicians have studied 223 families in which a diagnosis of congenital myotonia linked to the chlorine channel has been identified. It appears that : the two different modes of transmission, autosomal dominant or autosomal recessive, are … [Read more]
