Genotype-Phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis

Hyperkalemic Periodic Paralysis Synonym: HyperPP

Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, ...

A case of hyperkalemic periodic paralysis.

た.し か し発熱,筋 ・関節痛はな く,知 覚異常も 自覚 しなかつた.筋 脱力は四肢に限局し,頭 頚部 およ び躯幹の異常はなかつた.発 病後約1週 間徐 徐に増悪 したのち快方に向い,約1ヵ 月間の通院 治療で全治した.そ の後は特別の症状なく普通に 生活 していたがが,昭 和43年(15才 時)8月 初旬, 野球大会に投手 として出場のための練習で過労がが 続いたのち,同 月12日,最 終試合を 終えて 帰宅 後,夕 食前,午 後6時 頃から両手の脱力を覚え, 翌13日 朝は両下肢 の脱力が加わ り,さ らに夕刻に は軽度の嚥下障害も認められ,14日 には腰腹筋脱 力,15日 には起坐 ・歩行全 く不能 とな り,8月17 日当科に入院 した. 入院時現症:意 識清明.起 坐 ・歩行全 く不能 で受動的背臥位であるが,心 ・肺お よび腹部内臓 には異常なく,軽 度の嚥下障害を...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis

Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...

TBC1D24 genotype–phenotype correlation

OBJECTIVE To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESULTS Forty-eight patients were included (28 men, 20 women, average age 21 year...