Treatment of McArdle Disease

McArdle disease is an autosomal recessive disorder affecting skeletal muscle glycogen metabolism. Limited data are available regarding pregnancy outcomes with this genetic condition. We present a recent case of a woman with McArdle disease, along with a scoping review of all published literature regarding pregnancy and delivery outcomes for women with McArdle disease. A total of 35 cases are summarised. Overall, pregnancy does not worsen or increase the risk for disease flare. Women can successfully deliver vaginally, with consideration of an assisted second stage recommended to reduce the risk of postpartum rhabdomyolysis.

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144th ENMC International Workshop: Outcome Measures in McArdle Disease, 29 September–1 November 2006, Naarden, The Netherlands

Neuromuscular Disorders ◽

10.1016/j.nmd.2007.03.001 ◽

2007 ◽

Vol 17 (6) ◽

pp. 494-498 ◽

Cited By ~ 9

Author(s):

R. Quinlivan ◽

J. Vissing

Keyword(s):

The Netherlands ◽

Outcome Measures ◽

International Workshop ◽

Mcardle Disease

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Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.

Journal of Medical Genetics ◽

10.1136/jmg.34.5.391 ◽

1997 ◽

Vol 34 (5) ◽

pp. 391-394 ◽

Cited By ~ 4

Author(s):

S Iyengar ◽

H Kalinsky ◽

S Weiss ◽

M Korostishevsky ◽

M Sadeh ◽

...

Keyword(s):

Rare Mutation ◽

Mcardle Disease

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The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-014-9743-2 ◽

2014 ◽

Vol 38 (2) ◽

pp. 221-230 ◽

Cited By ~ 13

Author(s):

Gisela Nogales-Gadea ◽

Alfredo Santalla ◽

Astrid Brull ◽

Noemi de Luna ◽

Alejandro Lucia ◽

...

Keyword(s):

Disease Genes ◽

Therapeutic Implications ◽

Mcardle Disease

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Myophosphorylase deficiency (McArdle disease) in a patient with normal pregnancy and normal pregnancy outcome

Obstetric Medicine ◽

10.1258/om.2011.100015 ◽

2011 ◽

Vol 4 (3) ◽

pp. 120-121 ◽

Cited By ~ 4

Author(s):

Warwick Giles ◽

Catherine Maher

Keyword(s):

Skeletal Muscles ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Normal Pregnancy ◽

Significant Rise ◽

Women Of Childbearing Age ◽

Childbearing Age ◽

Fetal Head ◽

Mcardle Disease ◽

Exercise Induced

McArdle disease is a rare, mostly autosomal recessive disorder of deficient myophosphorylation of glycogen in skeletal muscles. Recent knowledge regarding this condition means that women of childbearing age with McArdle disease can expect to labour normally without ill effect. We report a case of a 30-year-old woman in her first pregnancy who had an episode of exercise-induced myoglobinuria with a significant rise in serum creatine kinase (CK) levels in early pregnancy who then laboured normally but did require a caesarean section for a malposition of the fetal head.

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