McArdle disease


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Related to McArdle disease: Hers disease, Tarui disease

McArdle disease

 [mik-ar´d'l]
glycogen storage disease (type V), a condition in which deficiency of muscle phosphorylase results in accumulation of glycogen in skeletal muscles, with muscle cramps and a depressed blood lactate level during exercise. Called also myophosphorylase deficiency glycogenosis.

gly·co·ge·no·sis type 5

(glī'kō-jĕ-nō'sis tīp)
Disorder due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle tissue.
Synonym(s): McArdle disease, McArdle-Schmid-Pearson disease.

McArdle disease

(mak-ard'il)
[Brian McArdle, Brit. pediatrician, 1911–2002]
A glycogen storage disease caused by deficient myophosphorylase B (a muscle phosphorylase.)
Synonym: glycogen storage disease type V; muscle phosphorylase deficiency

McArdle,

Brian, English neurologist, d. 2002.
McArdle disease - Synonym(s): McArdle syndrome
McArdle syndrome - glycogenosis due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle. Synonym(s): Cori syndrome; McArdle disease; McArdle-Schmid-Pearson syndrome; type 5 glycogenosis
McArdle-Schmid-Pearson disease - Synonym(s): McArdle syndrome
References in periodicals archive ?
He was diagnosed with McArdle disease at the age of 20 years based on an abnormal muscle biopsy.
His serum CK level varied as expected in McArdle disease, with a decreasing trend (average CK in 2011-2014: 3,006 IU/L, average in 2015-2017: 1,029 IU/L; last measured in July 2017: 941 IU/L; reference range: up to 240 IU/L).
Here we report two people with McArdle disease who have safely performed resistance training.
Owing to the risk of recurrent rhabdomyolysis, for many years resistance training was strongly warned against in people with McArdle disease. The first case report suggesting a safe protocol of resistance training in McArdle was published in 2013 in Spain [6].
He initially followed the guidance of a local personal trainer, who learnt about McArdle disease and understood the underlying disease pathophysiology.
Considering that the ATP-phosphocreatine energy system pathway is not affected in people with McArdle disease, we have demonstrated in our small case series that this population can safely exercise at a high intensity level for up to 10 seconds at time, depending on training intensity, with 30 seconds to 3 minutes break in between sets of exercise in order to allow energy to be restored.