Paramyotonia congenita (PMC), which is also known as Eulenburg's disease, is an autosomal dominant inherited disease whose predominant feature is an episodic cold- or exercise-induced muscle myotonia in exposed areas (mainly the face, neck, and hands) that lasts for minutes to hours. The disease may also progress later in life, with stiffness giving way to flaccid paralysis and weakness in exposed or exercised muscles. It is caused by mutations in the sodium channel gene SCN4A.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C74 Periodic paralyses or disorders of muscle membrane excitability
H00743 Paramyotonia congenita
PMC mutations are concentrated around exons 22 and 24 of SCN4A, the commonest mutations being the Thr1313Met mutation and a variety of substitutions at position 1448.
