Management Guidelines
No specific clinical practice guidelines for myotonia congenita have been published. However, a general guideline on clinical presentation and management of nondystrophic myotonias is available .
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with myotonia congenita, the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:
Consultation with a neurologist or other relevant specialist to evaluate the need for pharmacologic treatment. Severity of myotonia can be assessed by a myotonia questionnaire (e.g., the Myotonia Behavior Scale ) and by timed assessments of myotonia, for instance, time to open tightly closed eyes, time to open a clinched hand, testing of myotonia walking on a staircase, or a timed-up-and-go test.
Consultation with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse to inform affected individuals and their families about the nature, mode of inheritance, and implications of myotonia congenita in order to facilitate medical and personal decision making
Treatment of Manifestations
Some individuals with minor complaints may only need to accommodate their activities and lifestyles to reduce symptoms . Exercise temporarily alleviates myotonia (the "warm-up" effect). Note that a long-term beneficial effect of gymnastics is doubtful, as a small training study of six individuals with myotonia congenita showed good imp...
Source: GeneReviews — "Myotonia Congenita"
