Autosomal dominant myotonia congenital due to mutations in the chloride channel. It presents with a picture of widespread and progressive myotonia. As is often the case in neurological-muscular disorders, it can be associated with functional disuse lymphedema caused by muscular hypotonia.

Lascia un commento

Il tuo indirizzo email non sarà pubblicato. I campi obbligatori sono contrassegnati *