Acetazolamide in Hypokalemic Periodic Paralysis

J Gordon Millichap

doi:10.15844/pedneurbriefs-14-9-11

Abstract

The mechanism of action of acetazolamide in the K-deficient diet rat, an animal model of human hypokalemic periodic paralysis (hypoPP), was investigated at the University of Bari, Italy.

Highlights

MOTOR DYSFUNCTION IN CHILDREN WITH ADHD The performance of children with attention deficit hyperactivity disorder (ADHD) in the Movement Assessment Battery for Children test was evaluated at the Motorik Lab, Department of Woman and Child Health, Karolinska Institute, Sweden
CONGENITAL MYASTHENIC SYNDROME AND AChR MUTATION A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted from 2 years of age and evaluated at the University of Bonn, Germany, was found to have congenital myasthenic syndrome (CMS) due to homozygosity of the 1293insG e-acetylcholine receptor subunit mutation
Differences in the acetylcholine receptor mutation haplotype can markedly influence the severity of congenital myasthenic syndrome

Summary

Introduction

CONGENITAL MYASTHENIC SYNDROME AND AChR MUTATION A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted from 2 years of age and evaluated at the University of Bonn, Germany, was found to have congenital myasthenic syndrome (CMS) due to homozygosity of the 1293insG e-acetylcholine receptor subunit mutation. Compared to the original case report of a CMS with end-plate acetylcholine receptor deficiency, heteroallelic for two e-AChR subunit mutations, and affected with mild muscle weakness, in this homozygous case, the weakness was profound and was associated with muscle wasting. (Sieb JP, Kraner S, Schrank B et al Severe congenital myasthenic syndrome due to homozygosity of the 1293insG e-acetylcholine receptor subunit mutation.

Results

Conclusion