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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; Batten-Turner Congenital Myopathy; Becker Disease; Congenital Myotonia; Generalized Myotonia of Becker; Generalized Myotonia of Thomsen; Myopathy, Congenital; Myotonia Congenita, Autosomal Dominant; Myotonia Congenita, Autosomal Recessive; 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: 263 relevant articles (8 outcomes, 19 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
5. Paralysis (Palsy)

Experts

1. Hanna, Michael G: 7 articles (01/2022 - 11/2008)
2. Chen, Tsung-Yu: 6 articles (01/2020 - 07/2012)
3. Comi, Giacomo P: 5 articles (12/2021 - 07/2012)
4. Lucchiari, Sabrina: 5 articles (12/2021 - 07/2012)
5. Tang, Chih-Yung: 5 articles (01/2020 - 12/2012)
6. Desaphy, Jean-François: 5 articles (01/2018 - 10/2013)
7. Imbrici, Paola: 5 articles (01/2018 - 09/2013)
8. Fahlke, Christoph: 5 articles (10/2015 - 09/2002)
9. Fialho, Doreen: 4 articles (01/2022 - 11/2008)
10. Matthews, Emma: 4 articles (01/2022 - 02/2011)

Drugs and Biologics

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

Therapies and Procedures

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