Treatment in myotonia and periodic paralysis

G Meola, V Sansone
Revue Neurologique 2004, 160 (5 Pt 2): S55-69
The myotonic disorders, including the myotonic dystrophies (myotonic dystrophy type 1, DM1; myotonic dystrophy type 2, DM2/PROMM/PDM), the muscle channelopathies or non-dystrophic myotonias (chloride, sodium, calcium and potassium channelopathies) are all characterized by myotonia and muscle weakness despite different pathophysiology involved in these disorders. Myotonia may affect the eye, facial and jaw muscles as well as the hands and legs. It may be painful and disabling. Muscle weakness may be episodical as in the paralytic attacks of the sodium and calcium channelopathies or culminate in permanent muscle weakness as in the calcium channelopathies and some sodium channelopathies associated to specific point mutations. The severity of myotonia may fluctuate in the myotonic dystrophies, but weakness is usually fixed, affecting neck flexors, facial and jaw muscles as well as proximal and distal muscles of the limbs. Despite the recent progress in molecular genetics the precise mechanisms responsible for myotonia and weakness are not fully understood and there is no standardized treatment strategy. We present a review of selected treatment trials in the myotonic disorders and the muscle channelopathies, and discuss our experience in the treatment of myotonia and muscle weakness, with reference to the limits and advantages of treatment trials in this field.

Full Text Links

Find Full Text Links for this Article


You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.