Phenotypical Variation with Same Genetic Mutation in Familial Hypokalemic Periodic Paralysis.
Sumant Kumar1, Eniang E Offiong2, Sweta Sangita1
1Royal College of Pediatrics and Child Health, London, United Kingdom.
Journal of Pediatric Neurosciences
|August 10, 2018
Summary
Hypokalemic periodic paralysis, a genetic disorder, causes episodes of muscle weakness linked to low potassium. This case study highlights a CACNA1S gene mutation in a family, emphasizing prompt diagnosis and treatment.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Hypokalemic periodic paralysis (HPP) is a rare genetic neuromuscular disorder.
- Characterized by intermittent, painless muscle paralysis episodes.
- Attacks are associated with low serum potassium levels and triggered by exercise, fasting, or high-carbohydrate meals.
Observation:
- Two siblings presented with varied HPP symptoms at different ages.
- Older sibling experienced morning weakness after exercise and carbohydrate intake.
- Younger sibling reported muscle stiffness post-carbohydrate meals and exercise.
Findings:
- Molecular genetic analysis identified the CACNA1S C3716G>A (p.Arg1239His) mutation in both siblings and their father.
- This mutation affects the calcium channel alpha-1S subunit, a known cause of HPP.
Implications:
- Highlights the importance of considering HPP in pediatric patients with unexplained muscle weakness or stiffness.
- Prompt diagnosis involves checking serum potassium, considering family history, and identifying triggers.
- Treatment with potassium supplementation is effective and can prevent future attacks.
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