Search Login Register

Myotonia Congenita (Thomsen Disease) Summary

Description: 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 Show All >>

Networked: 175 relevant articles (5 outcomes, 10 trials/studies) for this Disease

Key Drugs and Agents for Myotonia Congenita

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Sodium Channels (Sodium Channel) : 1 outcome 1 study in 18 results : IBA
  2. Sodium : 1 outcome 1 study in 8 results : IBA
  3. Acetazolamide (Diamox) : 1 outcome 1 study in 5 results : FDA 13 Generic
  4. lacosamide : 1 outcome 1 study in 1 result : FDA 3
  5. Prednisone (Sone) : 1 outcome in 1 result : FDA 119 Generic
  6. Flecainide (Tambocor) : 1 outcome in 1 result : FDA 7 Generic
  7. 1,2- diarachidonoyl- glycero- 3- phosphocholine : 1 outcome in 1 result : IBA
  8. Chloride Channels (Chloride Channel) : 3 studies in 82 results : IBA
  9. Potassium : 1 study in 8 results : IBA
  10. Mexiletine (Mexitil) : 1 study in 4 results : FDA 5 Generic
Show All >>

Diseases Related to Myotonia Congenita

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

Key Therapies for Myotonia Congenita

Efficacy Chart >>
  1. Anesthesia : 3 results
  2. Rewarming : 1 result
  3. Spinal Fusion (Spondylosyndesis) : 1 result
  4. Electrodes (Electrode) : 1 result
  5. Denervation : 1 result

CureHunter Inc. provides medical information and specifically does NOT provide medical advice.
© Copyright 2003-2016 CureHunter Inc., MeSH copyright NLM, Journal Articles copyright original owners.