<unk>  <unk> , is a rare<unk> l autosomal dominant neuromuscular disorder characterized by “paradoxical” myotonia. This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia<unk> , is alleviated by exercise.<unk>  is also distinguished as it can be induced by cold temperatures. Although more typical of the periodic paralytic disorders, patients with<unk>  may also have potassium-provoked paralysis.<unk>  typically presents within the first decade of life and has 100% penetrance. Patients with this disorder commonly present with myotonia in the face or upper extremities. The lower extremities are generally less affected. While some other related disorders result in muscle atrophy, this is not normally the case with<unk> . This disease can also present as hyperkalemic periodic paralysis and there is debate as to whether the two disorders are actually distinct.
Paramyotonia congenita
Myotonia congenita
Periodic paralysis
Klumpke paralysis
Quadrigia
Paroxysmal kinesigenic choreoathetosis
Ataxic cerebral palsy
Cramp fasciculation syndrome