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Glycogen Storage Disease Type V (McArdle's Disease)

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Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.

Also Known As:

McArdle's Disease; McArdle Disease; Deficiency, Muscle Phosphorylase; Glycogen Storage Disease Type 5; McArdle Type Glycogen Storage Disease; Muscle Glycogen Phosphorylase Deficiency; Muscle Phosphorylase Deficiency; Deficiencies, Muscle Phosphorylase; Disease, McArdle; Disease, McArdle's; Glycogenosis 5s; McArdles Disease; Muscle Phosphorylase Deficiencies; Phosphorylase Deficiencies, Muscle; Phosphorylase Deficiency, Muscle; Glycogenosis 5

Networked: 300 relevant articles (17 outcomes, 32 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Glycogen Storage Disease (Glycogenosis)
2.	Glycogen Storage Disease Type VII (Tarui's Disease)
3.	Mitochondrial Myopathies (Mitochondrial Myopathy)
4.	Pain (Aches)
5.	Muscular Diseases (Myopathy)

Experts

1.	Vissing, John: 19 articles (08/2015 - 05/2002)
2.	Lucia, Alejandro: 19 articles (07/2015 - 12/2006)
3.	Haller, Ronald G: 14 articles (08/2015 - 06/2002)
4.	Arenas, J: 14 articles (03/2009 - 01/2000)
5.	Andreu, Antoni L: 13 articles (07/2015 - 09/2003)
6.	Martín, Miguel A: 11 articles (07/2015 - 09/2003)
7.	Nogales-Gadea, Gisela: 11 articles (07/2015 - 02/2007)
8.	Andreu, A L: 10 articles (03/2009 - 02/2000)
9.	Rubio, J C: 10 articles (03/2009 - 01/2000)
10.	Arenas, Joaquin: 9 articles (07/2015 - 12/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease Type V:

1.	Glucagon (Glukagon)FDA Link 11/01/1984 - "Metabolic basis of improved exercise tolerance: muscle phosphorylase deficiency after glucagon administration." 12/01/1985 - "Depot-glucagon in the treatment of McArdle's disease." 11/26/1982 - "[McArdle's disease: therapeutic use of depot-glucagon]." 09/01/1984 - "Pretreatment with glucagon relieved patients with McArdle disease from muscular symptoms during exercise and enhanced exercise performance, though it did not produce any improvement in patients with Tarui disease. " 09/01/1984 - "A comparative study on glucagon effect between McArdle disease and Tarui disease."
2.	Myophosphorylase deficiencyIBA 01/01/2007 - "Lower-dose CrM supplementation in patients with McArdle's disease (myophosphorylase deficiency) improved exercise capacity, yet higher doses actually showed some indication of worsened function. " 11/01/2002 - "Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families." 02/01/2000 - "To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients. " 07/01/2012 - "McArdle disease is caused by a myophosphorylase deficiency consequent to defects in the PYGM gene. " 08/01/2011 - "Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease)."
3.	Glucose (Dextrose)FDA LinkGeneric 06/01/2002 - "In this study, six patients with McArdle's disease and six matched control subjects were subjected to an oral glucose tolerance test and a euglycemic-hyperinsulinemic clamp. " 05/13/2008 - "IV glucose administration appeared to improve exercise tolerance in the patient with PHK deficiency, but not to the same extent as in the patients with McArdle disease. " 09/01/2002 - "First, the spontaneous second wind and the glucose-induced second second wind in McArdle disease are due to substrate-dependent increases in muscle oxidative capacity. " 09/01/2002 - "Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms." 05/01/1992 - "Hormonal, metabolic, and cardiovascular responses to 21 min of cycling in three saline- or glucose-infused men with McArdle's disease were compared with those of matched controls to elucidate whether mobilization of extramuscular fuel is enhanced to compensate for the lack of intramuscular glycogenolysis in patients with McArdle's disease. "
4.	Adenosine Triphosphate (ATP)IBA 12/01/2012 - "A fundamental biochemical problem in these conditions is the impaired generation of ATP to fuel muscle contractions, which relates directly to the metabolic defect, but also to substrate-limited energy deficiency, as exemplified by the "second wind" phenomenon in McArdle disease. " 07/01/1990 - "These findings suggest that glucose infusion to patients with McArdle's disease ameliorates excessive ATP degradation in exercising muscles." 12/01/1985 - "The results suggest that alterations in the levels of muscle PCr and Pi but not ATP are involved in the muscle fatigue in McArdle's disease and the improved exercise performance during glucose infusion." 07/01/1990 - "Glucose infusion abolishes the excessive ATP degradation in working muscles of a patient with McArdle's disease." 11/01/2013 - "McArdle disease (MD) is a metabolic myopathy due to myophosphorylase deficiency, which leads to a severe limitation in the rate of adenosine triphosphate (ATP) resynthesis. "
5.	Vitamin B 6IBA 01/01/2010 - "Vitamin B6 may be beneficial for McArdle disease, especially for its easy fatigability." 03/01/2012 - "Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy." 01/01/2010 - "A case of McArdle disease: efficacy of vitamin B6 on fatigability and impaired glycogenolysis." 05/01/1998 - "A patient-blind study into the effect of a 10-week cessation of long-term vitamin B6 supplementation on B6 status and performance in McArdle's disease is reported. " 03/01/2012 - " report a Japanese patient with McArdle disease who was treated with vitamin B(6) supplementation (60-90 mg/day). "
6.	CreatineIBA 01/01/2002 - "In a recent study, we showed that administration of low-dose creatine (Cr) (60 mg/kg daily) improved work capacity in patients with McArdle disease. " 07/01/2000 - "This is the first controlled study indicating that creatine supplementation improves skeletal muscle function in McArdle disease." 05/01/2011 - "Creatine monohydrate supplementation shows modest benefits only at lower doses and possibly negative effects (cramping) at higher doses in McArdle's disease patients. " 05/01/2003 - "Exercise to exhaustion in the second-wind phase of exercise in a case of McArdle's disease with and without creatine supplementation." 01/01/2002 - "Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study."
7.	Muscle Form Glycogen Phosphorylase (Myophosphorylase)IBA 06/01/2009 - "These findings identify the first distinct genotype-phenotype relationship in McArdle disease, and indicate that minimal myophosphorylase activity ameliorates the typical McArdle disease phenotype by augmenting muscle oxidative capacity. " 06/01/2009 - "Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease." 11/01/2015 - "We found that a novel c.1151C>T transition in exon 10 of the myophosphorylase gene (PYGM) is associated with minimally symptomatic McArdle disease. " 12/01/2014 - "Our findings suggest that analysis of myophosphorylase expression in white blood cells might be a useful, less-invasive, complementary test for diagnosing McArdle disease. " 12/01/2014 - "Diagnosis of McArdle disease is based on clinical diagnostic tests, together with an absence of myophosphorylase activity in skeletal muscle biopsies and genetic analysis of the myophosphorylase-encoding gene, PYGM. "
8.	Ribose (D-Ribose)IBA 03/01/1996 - "To determine whether seven days oral D-ribose would improve exercise tolerance in a group of 5 patients with McArdle's disease, we performed a double blind placebo controlled crossover trial. " 03/01/1996 - "A double blind, placebo controlled, crossover trial of D-ribose in McArdle's disease." 03/01/1996 - "Patients did not like taking the ribose and D-Ribose does not appear to be of benefit to patients with McArdle's disease." 01/22/1991 - "McArdle's disease: successful symptomatic therapy by high dose oral administration of ribose." 07/01/1992 - "Ribose application has been shown to be beneficial in several clinical disease states such as myoadenylate deaminase deficiency and McArdle's disease. "
9.	Verapamil (Calan)FDA LinkGeneric 09/01/1986 - "None of the patients with McArdle's disease responded to verapamil, but two patients with unclassified EMPS experienced a striking improvement in symptoms and two others showed a partial response. " 09/01/1986 - "Eleven patients, comprising three cases of McArdle's disease and eight with an exertional muscle pain syndrome (EMPS) of unknown cause, entered a double-blind crossover study of verapamil and placebo. " 09/01/1984 - "Trials of verapamil and dantrolene sodium in McArdle disease."
10.	Ramipril (Altace)FDA LinkGeneric 03/01/2008 - "In a double-blind, randomized, placebo-controlled trial, we assessed the efficacy of an ACE inhibitor (2.5 mg ramipril) in 8 patients with McArdle's disease. " 03/01/2008 - "Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's disease."

Therapies and Procedures

1.	Ketogenic Diet 11/01/2008 - "Initial studies indicate that the ketogenic diet appears effective in other metabolic conditions, including phosphofructokinase deficiency and glycogenosis type V (McArdle disease). " 07/01/2007 - "Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle."
2.	Activities of Daily Living (ADL) 12/01/2006 - "Together with the novel mutation, there is a markedly decreased exercise capacity in a patient with McArdle disease, which could account for the profound alteration in the capacity for performing normal activities of daily living in this subpopulation." 01/01/2013 - "One trial reported a significant deterioration of activities of daily living (mean difference 0.54 on a 1 to 10 scale; 95% CI 0.14 to 0.93) and an increase in muscle pain during high-dose creatine treatment in McArdle disease. " 01/01/2011 - "One trial reported a significant deterioration of ADL (mean difference 0.54 on a 1 to 10 scale; 95% CI 0.14 to 0.93) and an increase in muscle pain during high-dose creatine treatment in McArdle disease. " 01/01/2013 - "High-dose creatine treatment impaired activities of daily living and increased muscle pain in McArdle disease." 01/01/2011 - "High-dose creatine treatment impaired ADL and increased muscle pain in McArdle disease."
3.	Anesthesia 11/01/2015 - "[Anesthesia in a Patient with McArdle Disease]." 06/01/2011 - "When a patient with McArdle disease presents for any surgical procedure, a variety of anesthesia implications should be discussed and incorporated into the overall management of his or her care. " 06/01/2011 - "Anesthesia considerations in a patient with mcArdle disease: a case report." 06/01/2002 - "[Anesthesia for cesarean section in a patient with McArdle disease and hereditary dilated cardiomyopathy]." 09/01/2013 - "McArdle's disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature."
4.	Cesarean Section (Caesarean Section) 02/01/1988 - "McArdle's disease and caesarean section." 08/01/1984 - "A case is presented of the anaesthetic management of a patient with McArdle's disease who required Caesarean section. " 06/01/2002 - "[Anesthesia for cesarean section in a patient with McArdle disease and hereditary dilated cardiomyopathy]." 06/01/2002 - "A caesarean section was indicated in a 29-year-old parturient affected by a muscular deficit in myophosphorylase responsible for a type V glycogen storage disease (McArdle disease). "
5.	Microelectrodes 05/01/1990 - "To determine if sympathetic activation is attenuated when muscle glycogenolysis is blocked due to myophosphorylase deficiency (McArdle's disease), an inborn enzymatic defect localized to skeletal muscle, we now have performed microelectrode recordings of MSNA in four patients with McArdle's disease during static handgrip contraction. " 05/01/2003 - "To determine if lactic acid is a critical mediator of metaboreflex activation in humans, we performed microelectrode recordings of MSNA in eight patients with myophosphorylase deficiency (McArdle's disease) who cannot metabolize intramuscular glycogen and do not generate lactic acid in exercising muscles. "