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Myotonia Congenita (Thomsen Disease)

Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.
Also Known As:
Thomsen Disease; Batten Turner Congenital Myopathy; Becker Disease; Generalized Myotonia of Becker; Generalized Myotonia of Thomsen; Myotonia Congenita, Autosomal Dominant; Myotonia Levior; Myotonia, Generalized; Thomsen's Disease; Thomsens Disease; Disease, Becker; Disease, Thomsen; Disease, Thomsen's; Disease, Thomsens; Generalized Myotonia; Generalized Myotonia, Becker; Generalized Myotonias; Myotonia, Becker Generalized; Myotonias, Generalized; Thomsen Generalized Myotonia; Becker Generalized Myotonia; Myotonia, Generalized, Becker
Networked: 175 relevant articles (5 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Myotonia
2. Facial Paralysis (Facial Palsy)
3. Myotonic Disorders (Paramyotonia Congenita)
4. Hyperkalemic Periodic Paralysis (Periodic Paralysis, Hyperkalemic)
5. Muscular Dystrophies (Muscular Dystrophy)

Experts

1. Fahlke, Christoph: 5 articles (01/2015 - 09/2002)
2. Desaphy, Jean-François: 4 articles (09/2015 - 10/2013)
3. Modoni, Anna: 4 articles (02/2015 - 02/2011)
4. Hanna, Michael G: 4 articles (06/2014 - 11/2008)
5. Conte Camerino, Diana: 3 articles (09/2015 - 10/2013)
6. Imbrici, Paola: 3 articles (09/2015 - 09/2013)
7. Sternberg, Damien: 3 articles (01/2015 - 02/2008)
8. Burgunder, Jean-Marc: 3 articles (01/2014 - 05/2004)
9. George, Alfred L: 3 articles (10/2013 - 12/2002)
10. Fialho, Doreen: 3 articles (04/2013 - 11/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Myotonia Congenita:
1. Sodium Channels (Sodium Channel)IBA
2. SodiumIBA
3. Acetazolamide (Diamox)FDA LinkGeneric
4. lacosamideFDA Link
5. Prednisone (Sone)FDA LinkGeneric
6. Flecainide (Tambocor)FDA LinkGeneric
7. 1,2- diarachidonoyl- glycero- 3- phosphocholineIBA
8. Chloride Channels (Chloride Channel)IBA
9. PotassiumIBA
10. Mexiletine (Mexitil)FDA LinkGeneric

Therapies and Procedures

1. Anesthesia
2. Rewarming
3. Spinal Fusion (Spondylosyndesis)
4. Electrodes (Electrode)
5. Denervation