RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine

被引：34

作者：

Illingworth, M. A. ^{[1
,2
]}

Main, M. ^{[1
,2
]}

Pitt, M. ^{[3
]}

Feng, L. ^{[1
,2
]}

Sewry, C. A. ^{[1
,2
,4
]}

Gunny, R. ^{[5
]}

Vorstman, E. ^{[6
]}

Beeson, D. ^{[7
]}

Manzur, A. ^{[1
,2
]}

Muntoni, F. ^{[1
,2
]}

Robb, S. A. ^{[1
,2
]}

机构：

[1] UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

[2] Great Ormond St Hosp Sick Children, London, England

[3] Great Ormond St Hosp Sick Children, Dept Clin Neurophysiol, London, England

[4] RJAH Orthopaed Hosp, Wolfson Ctr Inherited Neuromuscular Dis, Oswestry, Shrops, England

[5] Great Ormond St Hosp Sick Children, Dept Radiol, London, England

[6] Gloucester Royal Hosp, Dept Paediat, Gloucester, England

[7] John Radcliffe Hosp, Weatherall Inst, Oxford OX3 9DU, England

来源：

NEUROMUSCULAR DISORDERS | 2014年 / 24卷 / 08期

关键词：

RYR1 congenital myopathy; Congenital fibre type disproportion; Fatigability; Muscle MRI; Electrophysiology; RYR1; MUTATIONS; COMMON-CAUSE;

D O I：

10.1016/j.nmd.2014.05.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The spectrum of RYR1 mutation associated disease encompasses congenital myopathies, exercise induced rhabdomyolysis, malignant hyperthermia susceptibility and King-Denborough syndrome. We report the clinical phenotype of two siblings who presented in infancy with hypotonia and striking fatigable ptosis. Their response to pyridostigimine was striking, but genetic screening for congenital myasthenic syndromes was negative, prompting further evaluation. Muscle MRI was abnormal with a selective pattern of involvement evocative of RYR1-related myopathy. This directed sequencing of the RYR1 gene, which revealed two heterozygous c.6721C>T (p.Arg2241X) nonsense mutations and novel c.8888T>C (p.Leu2963Pro) mutations in both siblings. These cases broaden the RYR1-related disease spectrum to include a myasthenic-like phenotype, including partial response to pyridostigimine RYR1-related myopathy should be considered in the presence of fatigable weakness especially if muscle imaging demonstrates structural abnormalities. Single fibre electromyography can also be helpful in cases like this. (C) 2014 Elsevier B.V. All rights reserved.

引用

页码：707 / 712

页数：6

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