Treatment in myotonia and periodic paralysis.
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.
Department of Neurology, University of Milan, Istituto Policlinico San Donato, Italy.
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G
Meola
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V
Sansone
D001706:Biopsy; D015220:Calcium Channels / Q000187:drug effects / Q000502:physiology; D018118:Chloride Channels / Q000187:drug effects / Q000502:physiology; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006801:Humans; D007473:Ion Channels / Q000502:physiology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009222:Myotonia / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D009223:Myotonic Dystrophy / Q000503:physiopathology; D010245:Paralyses, Familial Periodic / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D015221:Potassium Channels / Q000187:drug effects / Q000502:physiology; D015222:Sodium Channels / Q000187:drug effects / Q000502:physiology; D013971:Thyrotoxicosis / Q000150:complications / Q000188:drug therapy / Q000503:physiopathology
D015220:Calcium Channels; D018118:Chloride Channels; D007473:Ion Channels; D015221:Potassium Channels; D015222:Sodium Channels; D004247:DNA