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| Disease found: | Acquired Neuromyotonia |
| Current as of: | October 8, 2024 |
| Disease Overview: | Inflammatory disease characterized by abnormal peripheral nerve impulses resulting in continuous activity [more info]; appear to be hereditary and acquired (non-inherited) forms [more info] |
| Signs and Symptoms: | Stiffness and delayed relaxation, along with muscle twitching (myokymia), ataxia, titubation (tremor), and diminished reflexes [more info] |
| Diagnosis: | Electrical signs of muscle activity (electromyography), serology: anti-VGKC [more info] |
| Treatment: | Anti-convulsant (phenytoin or carbamazepine), plasmapharesis, intravenous immune globulin [more info] |
| Clinical Management: | Symptom specific [more info] |
| Referral: | Limited [more info] . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | In thymoma-associated myasthenia gravis: [more info] |