Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V

被引：15

作者：

Hogrel, J. -Y. ^{[1
]}

van den Bogaart, F. ^{[2
]}

Ledoux, I. ^{[1
]}

Ollivier, G. ^{[1
]}

Petit, F. ^{[3
]}

Koujah, N. ^{[4
]}

Behin, A. ^{[1
]}

Stojkovic, T. ^{[1
]}

Eymard, B. ^{[1
]}

Voermans, N. ^{[2
]}

Laforet, P. ^{[1
]}

机构：

[1] Hop La Pitie Salpetriere, Inst Myol, Paris, France

[2] UMC Radboud, Nijmegen, Netherlands

[3] Antoine Beclere Hosp, Mol Genet & Metab Dis Lab, Clamart, France

[4] Hop La Pitie Salpetriere, Metab Biochem Lab, Paris, France

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2015年 / 22卷 / 06期

关键词：

diagnostic test assessment; glycogenoses; McArdle disease; metabolic disease (inherited); muscle disease; ISCHEMIC WORK TEST; DEFICIENCY MCARDLES-DISEASE; MYOPHOSPHORYLASE GENE; MUTATION; AMMONIA; PATIENT; LACTATE;

D O I：

10.1111/ene.12685

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background and purposeThis was a retrospective study to assess the diagnostic value of the non-ischaemic forearm exercise test in detecting McArdle's disease. MethodsThe study is a retrospective diagnostic study over 15years (1999-2013) on a referred sample of patients suffering from exercise intolerance and various muscle complaints, generally with elevated creatine kinase (CK). In all, 1226 patients underwent the non-ischaemic forearm exercise test. Blood lactate, ammonia and CK levels were analyzed. DNA analyses and/or muscle biopsies were assessed to confirm the diagnosis of McArdle's disease. The results of 60 volunteers were used to compare with the results of study subjects. ResultsIn this cohort, 40 patients were finally diagnosed with McArdle's disease. Absolute values of lactate and ammonia rise were used to discriminate all McArdle patients from healthy patients. A sensitivity and specificity of respectively 100% and 99.7% were calculated. The 24-h CK level showed no significant difference from the CK level at the day of the test and confirms the safety of the test. ConclusionsThis study has formally assessed the diagnostic value of the non-ischaemic forearm exercise test in the detection of McArdle's disease. Very high sensitivity and specificity were observed. Furthermore, the test is easy to set up and to perform, it is non-traumatic and cost effective. It may circumvent a muscle biopsy in McArdle patients presenting the most common mutations. Hence, it is a perfect and safe screening instrument to detect patients with McArdle's disease. Glycogen storage disease type III patients, however, may show similar patterns to McArdle patients.

引用

页码：933 / 940

页数：8

共 25 条

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