Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A)
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چکیده
منابع مشابه
Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).
A 35 year old woman with clinical features of hyperkalaemic periodic paralysis confirmed on provocative exercise testing was investigated. DNA sequence analysis of the gene for the alpha-subunit of the skeletal muscle voltage gated sodium channel (SCN4A) on chromosome 17q23 identified a point mutation at nucleotide position 2188. This results in a threonine to methionine substitution at amino a...
متن کاملFamilial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A
Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis reveal...
متن کاملAn atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A
Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular a...
متن کاملHypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness associated with a decrease in blood potassium levels. Recently, mutations in the gene coding for the skeletal muscle voltage-gated sodium channel alpha subunit (SCN4A) have been reported. We detected the R672H mutation in one HypoPP Turkish family.
متن کامل[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene].
INTRODUCTION Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disease characterized by recurrent episodes of muscular weakness with increased blood potassium levels. Here we present the clinical, analytical, neurophysiological and genetic findings of family with eight affected individuals, five of which were available for study. PATIENTS AND METHODS The five patients were subje...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1998
ISSN: 0022-3050
DOI: 10.1136/jnnp.65.2.248