Randomized trials of dichlorphenamide in the periodic paralyses

Tawil, Rabi; McDermott, Michael P.; Brown, Robert H.; Shapiro, Barbara C.; Ptáček, Louis J.; McManis, Philip G.; Dalakas, Marinos C.; Spector, Sidney A.; Mendell, Jerry R.; Hahn, Angelika F.; Griggs, Robert C.

doi:10.1002/1531-8249(200001)47:1<46::aid-ana9>3.0.co;2-h

Cited by 142 publications

(89 citation statements)

References 10 publications

(8 reference statements)

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“…Both acetazolamide (beginning at 125 mg twice daily) and dichlorphenamide (beginning at 25 mg twice daily) have been found to be effective carbonic anhydrase therapies. 16,38 During occasions in which severe hyperkalemia occurs, potentially life-threatening elevations in potassium levels may be quelled with intravenous insulin and glucose under careful electrolyte and EKG monitoring. (For more information regarding hyperkalemic periodic paralysis please refer to the article by Lehmann-Horn in this issue.…”

Section: Hyperkalemic Periodic Paralysis With Myotoniamentioning

confidence: 99%

The Nondystrophic Myotonias

Heatwole

Moxley

2007

Neurotherapeutics

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Summary:The nondystrophic myotonias are a heterogeneous set of rare diseases that demonstrate clinical myotonia, electrical myotonia, or both. These disorders are distinguished from myotonic dystrophy type 1 (DM-1), the more recently described proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM-2), and proximal myotonic dystrophy (a variant of DM-2) by characteristic clinical features, lack of abnormal nucleotide repeat expansions in the DM-1 and DM-2 genes, lack of cataracts and endocrine disturbances, and absence of significant histopathology in the muscle biopsy. The present article reviews each of the nondystrophic myotonias by exploring the unique clinical features, electrodiagnostic findings, diagnostic criteria, gene mutations, and response to pharmacologic therapy. These diseases are divided into those with chloride channel dysfunction (the myotonia congenita disorders) and those with sodium channel dysfunction (paramyotonia congenita, potassium-aggravated myotonia, and hyperkalemic periodic paralysis with myotonia). The variants that occur in each of these conditions are commented on. The differentiating features of the nondystrophic myotonias are summarized, and their predominant clinical, electrodiagnostic, and genetic characteristics are tabulated. For a comprehensive review of pertinent research and studies with application to diagnosis and treatment of individuals with nondystrophic myotonic disorders, the present article is best read in the context of other articles in this issue, especially those on ion channel physiology (Cannon) and pharmacology (Conte-Camerino), and on hyperkalemic periodic paralysis (Lehmann-Horn).

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Section: Hyperkalemic Periodic Paralysis With Myotoniamentioning

confidence: 99%

The Nondystrophic Myotonias

Heatwole

Moxley

2007

Neurotherapeutics

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“…The carbonic anhydrase inhibitors (CAI) such as acetazolamide (250 -1500 mg/day) and dichlorphenamide (50 -200 mg/day), which are demonstrated to be efficacious in other forms of periodic paralysis, 27 have been successfully used in ATS. 2,3 Patients with sulfa allergies cannot take CAIs and about 10% of individuals develop nephrolithiasis with CAIs.…”

Section: Treatment Of Periodic Paralysismentioning

confidence: 99%

Management and Treatment of Andersen-Tawil Syndrome (ATS)

Sansone

Tawil

2007

Neurotherapeutics

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Summary: Andersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS (ATS1) have point mutations in the KCNJ2 gene, which encodes the inward-rectifying potassium channel known as Kir2.1. The skeletal muscle and cardiac symptoms are accounted for, in most cases, by a dominant negative effect of the mutations on potassium channel current, resulting in prolonged depolarization of the action potential. Mechanisms of disruption of channel function include abnormal trafficking and assembly of second messengers such as phosphatidylinositol 4,5-bisphosphate, abnormal gating of the channel, and incorrect folding of the Kir2.1 protein. Less apparent is the mechanism by which these mutations account for the typical facial and skeletal abnormalities. The concomitant involvement of cardiac and skeletal muscle in ATS poses unique treatment and management challenges. Because of differences in cardiac and skeletal muscle physiology, drugs that may have a beneficial effect on cardiac function may have a detrimental effect on skeletal muscle and vice versa. We review the clinical, laboratory, and genetic features of this disorder with particular emphasis on treatment and management.

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“…Weakness can be provoked by immobility after strenuous exercise, ingestion of K + salts, fasting, cold exposure, emotional stress, or glucocorticoids (1,(7)(8)(9)(10), although the triggers can be highly variable even among members of a single affected family. Attacks can be prevented by carbohydrate ingestion, mild exercise, thiazide diuretics, or carbonic anhydrase inhibitors (1,11). The latter agents, and inhaled β-adrenergic agonists (9,12) or intravenous calcium gluconate (5,6), may also ameliorate symptoms during an attack.…”

Section: Introductionmentioning

confidence: 99%

Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness

Hayward¹,

Kim²,

Lee³

et al. 2008

J. Clin. Invest.

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Hyperkalemic periodic paralysis (HyperKPP) produces myotonia and attacks of muscle weakness triggered by rest after exercise or by K + ingestion. We introduced a missense substitution corresponding to a human familial HyperKPP mutation (Met1592Val) into the mouse gene encoding the skeletal muscle voltage-gated Na + channel Na V 1.4. Mice heterozygous for this mutation exhibited prominent myotonia at rest and muscle fibertype switching to a more oxidative phenotype compared with controls. Isolated mutant extensor digitorum longus muscles were abnormally sensitive to the Na + /K + pump inhibitor ouabain and exhibited age-dependent changes, including delayed relaxation and altered generation of tetanic force. Moreover, rapid and sustained weakness of isolated mutant muscles was induced when the extracellular K + concentration was increased from 4 mM to 10 mM, a level observed in the muscle interstitium of humans during exercise. Mutant muscle recovered from stimulation-induced fatigue more slowly than did control muscle, and the extent of recovery was decreased in the presence of high extracellular K + levels. These findings demonstrate that expression of the Met1592Val Na + channel in mouse muscle is sufficient to produce important features of HyperKPP, including myotonia, K + -sensitive paralysis, and susceptibility to delayed weakness during recovery from fatigue.

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Randomized trials of dichlorphenamide in the periodic paralyses

Cited by 142 publications

References 10 publications

The Nondystrophic Myotonias

The Nondystrophic Myotonias

Management and Treatment of Andersen-Tawil Syndrome (ATS)

Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness

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