Myotonic Disorders (Paramyotonia Congenita)

Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition. These disorders may be associated with abnormal muscle SODIUM CHANNEL and CHLORIDE CHANNELS. MYOTONIC DYSTROPHY and MYOTONIA CONGENITA represent two relatively common forms of this disorder. Proximal myotonic myopathy often presents with myotonia and muscle pain in early adulthood and later in life thigh muscle weakness and cataracts develop. (From Adams et al., Principles of Neurology, 6th ed, p1392)
Also Known As:
Paramyotonia Congenita; Proximal Myotonic Myopathy; Eulenburg Disease; Eulenburg's Disease; PROMM (Proximal Myotonic Myopathy); Congenita, Paramyotonia; Disease, Eulenburg; Disease, Eulenburg's; Disorder, Myotonic; Disorders, Myotonic; Eulenburgs Disease; Fluctuans, Myotonia; Myopathies, Proximal Myotonic; Myopathy, Myotonic; Myopathy, Proximal Myotonic; Myotonic Disorder; Myotonic Myopathies; Myotonic Myopathies, Proximal; Myotonic Myopathy; PROMMs (Proximal Myotonic Myopathy); Paramyotonia Congenitas; Proximal Myotonic Myopathies; Myopathies, Myotonic; Myotonia Fluctuans; Myotonic Myopathy, Proximal
Networked: 178 relevant articles (7 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Motor Neuron Disease (Primary Lateral Sclerosis)
2. Tetany (Spasmophilia)
3. Spasm (Spasms)
4. Neuralgia (Stump Neuralgia)
5. Muscle Cramp (Cramp)


1. Jurkat-Rott, Karin: 5 articles (11/2015 - 10/2003)
2. Sternberg, D: 5 articles (11/2014 - 01/2003)
3. Lehmann-Horn, Frank: 4 articles (10/2015 - 10/2003)
4. Takahashi, Masanori P: 4 articles (06/2012 - 11/2007)
5. Eymard, Bruno: 4 articles (04/2010 - 10/2003)
6. Dengler, R: 4 articles (06/2001 - 01/2000)
7. Hanna, Michael G: 3 articles (11/2014 - 01/2011)
8. Sakoda, Saburo: 3 articles (06/2012 - 11/2007)
9. Kubota, Tomoya: 3 articles (06/2012 - 05/2009)
10. Sternberg, Damien: 3 articles (04/2010 - 02/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Myotonic Disorders:
1. Mexiletine (Mexitil)FDA LinkGeneric
2. Sodium Channels (Sodium Channel)IBA
3. Potassium aggravated myotoniaIBA
4. Acetazolamide (Diamox)FDA LinkGeneric
5. Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric
6. Tocainide (Tonocard)FDA Link
7. Lidocaine (Xylocaine)FDA LinkGeneric
8. Propafenone (Rythmol)FDA LinkGeneric
9. PotassiumIBA
10. Ion Channels (Ion Channel)IBA
04/01/2007 - "For a comprehensive review of pertinent research and studies with application to diagnosis and treatment of individuals with nondystrophic myotonic disorders, the present article is best read in the context of other articles in this issue, especially those on ion channel physiology (Cannon) and pharmacology (Conte-Camerino), and on hyperkalemic periodic paralysis (Lehmann-Horn)."
06/01/1991 - "The purpose of this article is to focus on the more recent developments in the molecular and pharmacological analysis of cation transporting systems such as ionic channels and (Na+, K+) ATPase in myotonic disorders."
04/01/1987 - "The purpose of this review is to summarize the more recent developments in the molecular and pharmacological analysis of cation transporting systems such as ionic channels and (Na+,K+)-ATPase in myotonic disorders."
08/01/2001 - ""Pure" myotonic disorders affect only muscle and can be separated into ion channel disorders affecting either the chloride channel (myotonia congenita Thomsen or myotonia congenita Becker) or those affecting the sodium channel (paramyotonia, hyperkalemic periodic paralysis, and myotonia fluctuans). "
12/01/1996 - "Ion channel myopathies such as paramyotonia congenita, hyper- and hypokalaemic periodic paralysis, myotonia congenita, episodic ataxia and malignant hyperthermia were established as linked to mutations in genes encoding the sodium channel, dihydropyridine receptor, chloride channel, potassium channel and the ryanodine receptor calcium release channel, respectively. "

Therapies and Procedures

1. Anesthesia
2. Gastrectomy
3. Electrodes (Electrode)
4. Drug Therapy (Chemotherapy)
5. Denervation