| Paramyotonia congenita | |
|---|---|
| Other names | Paramyotonia congenita of von Eulenburg or Eulenburg disease[1] |
 | |
| This condition is inherited in an autosomal dominant manner. | |
| Specialty | Neurology  |
Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia.[2] This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita, is alleviated by exercise. PC is also distinguished as it can be induced by cold temperatures. Although more typical of the periodic paralytic disorders, patients with PC may also have potassium-provoked paralysis. PC 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 PC. This disease can also present as hyperkalemic periodic paralysis and there is debate as to whether the two disorders are actually distinct.[3]
- ^ Facts About Myopathies | MDA Publications Archived 2007-08-05 at the Wayback Machine
- ^ Eulenburg A (1886). "Über eine familiäre durch 6 Generationen verfolgbare Form kongenitaler Paramyotonie". Neurol. Zentralbl. 12: 265–72.
- ^ de Silva S, Kuncl R, Griffin J, Cornblath D, Chavoustie S (1990). "Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family". Muscle Nerve. 13 (1): 21–6. doi:10.1002/mus.880130106. PMID 2325698. S2CID 24805255.