AI Article Synopsis
- - Hypokalemic periodic paralysis (HypoPP) is an inherited disorder causing temporary muscle weakness and low potassium levels, often linked to mutations in the CACNA1S gene that affects calcium channels.
- - A Japanese woman with HypoPP developed symptoms at age 6, exacerbated by high-carbohydrate diets; her children also began showing similar symptoms at young ages, and testing revealed a specific mutation in all three.
- - Treatment with voglibose and acetazolamide helped manage her paralytic episodes, and the study suggests that the p.V876E mutation in CACNA1S is associated with both early onset and atypical manifestations of HypoPP.
Article Abstract
Background: Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in CACNA1S, encoding alpha-1 subunit of calcium channel. Few reports have documented the non-neuromuscular phenotypes of HypoPP.
Methods: The proband is a Japanese woman who developed HypoPP at 6 years of age. An excessive insulin secretion with the oral glucose tolerance test rationalized that she had experienced frequent attacks of paralysis on high-carbohydrate diets.
Results: Voglibose and acetazolamide effectively controlled her paralytic episodes. Her 8-year-old son and 2-year-old daughter started showing the paralytic symptoms from 4 and 2 years of age, respectively. Laboratory tests revealed high concentrations of creatinine kinase in serum and elevated renin activities in plasma of these children. The targeted sequencing confirmed that these three patients had an identical heterozygous mutation (p.V876E) in CACNA1S.
Conclusion: Our data indicate that the p.V876E mutation in CACNA1S contributes to the early onset of neuromuscular symptoms and unusual clinical phenotypes of HypoPP.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196457 | PMC |
| http://dx.doi.org/10.1002/mgg3.1175 | DOI Listing |
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- Primary hypokalemic periodic paralysis (HypoPP) is a muscle condition that causes episodes of paralysis and can lead to permanent muscle weakness; understanding its natural progression could help in treatment evaluation.* -
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- The findings suggest that MRI is an effective tool for detecting subclinical progression of HypoPP, helping to assess disease progression in both symptomatic and asymptomatic patients.*
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