Glycogen Storage Disease Type V (McArdle's Disease)

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240 relevant articles (13 outcomes, 26 trials/studies) found for this Disease

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

Also Known As:

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

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 420

Inborn Genetic Diseases: 547

Inborn Errors Metabolism: 401

Inborn Errors Carbohydrate Metabolism

Glycogen Storage Disease: 918

Glycogen Storage Disease Type V: 240

Nutritional and Metabolic Diseases

Metabolic Diseases: 1264

Inborn Errors Metabolism: 401

Inborn Errors Carbohydrate Metabolism

Glycogen Storage Disease: 918

Glycogen Storage Disease Type V: 240

Related Diseases

1.	Mitochondrial Myopathies (Mitochondrial Myopathy)
2.	Glycogen Storage Disease Type VII (Tarui's Disease)
3.	Muscular Diseases (Myopathy)
4.	Myoglobinuria
5.	Muscle Cramp (Cramp)
37 Diseases and 80 more articles analyzed in the Full Patient-Physician Summary Report, order at left...

Experts

1.	Arenas, J: 9 articles (12/2005 - 01/2000)
2.	Martín, M A: 7 articles (01/2004 - 01/2000)
3.	Rubio, J C: 7 articles (01/2004 - 01/2000)
4.	Andreu, A L: 6 articles (12/2005 - 02/2000)
5.	Campos, Y: 6 articles (11/2001 - 01/2000)
6.	Cabello, A: 5 articles (11/2001 - 01/2000)
7.	Haller, Ronald G: 4 articles (06/2008 - 06/2002)
8.	Vissing, John: 4 articles (06/2008 - 06/2002)
9.	Cabello, Ana: 3 articles (02/2008 - 06/2005)
10.	Andreu, Antoni L: 3 articles (02/2008 - 09/2003)

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." Get all the results and reference details, order at left...
2.	Muscle Form Glycogen Phosphorylase (Myophosphorylase)IBA 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 - "OBJECTIVE: To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients" 06/15/1979 - "McArdle's disease: a study on the molecular basis of two different etiologies of myophosphorylase deficiency." 04/01/2008 - "We evaluated the molecular and biochemical adaptations in substrate metabolism (glycolysis, electron transport chain, tricarboxylic acid cycle, beta-oxidation) in response to myophosphorylase deficiency in skeletal muscle from 13 patients with McArdle's disease (MD) and 13 age-matched controls" Get all the results and reference details, order at left...
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 - "CONCLUSIONS: 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" Get all the results and reference details, order at left...
4.	Adenosine Triphosphate (ATP)IBA 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." 07/01/2007 - "McArdle's disease is caused by genetic defects of the muscle-specific isozyme of glycogen phosphorylase, which block ATP formation from glycogen in skeletal muscle" 05/01/2001 - "We studied exercise-induced changes in the adenosine triphosphate (ATP), phosphocreatine (PCr), and lactate levels in the skeletal muscle of mitochondrial patients and patients with McArdle's disease" Get all the results and reference details, order at left...
5.	CreatineIBA 01/01/2002 - "BACKGROUND: 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 - "CONCLUSION: This is the first controlled study indicating that creatine supplementation improves skeletal muscle function in 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." 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." Get all the results and reference details, order at left...
6.	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" Get all the results and reference details, order at left...
7.	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." Get all the results and reference details, order at left...
8.	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." Get all the results and reference details, order at left...
9.	AMP Deaminase (Myoadenylate Deaminase)IBA 06/01/1987 - "McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency." 07/01/1992 - "The authors present a case report of patient with McArdle's disease, and diagnostic procedures which can be used in different diagnostic of metabolic myopathies, especially between myoadenylate deaminase deficiency and different types of gly(geno)lytic myopathies" 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" 07/01/1995 - "DNA analysis showed that the child was homozygous for the mutations commonly found in both McArdle's disease and AMP deaminase deficiency" 04/01/1986 - "Ischaemic exercise test in myoadenylate deaminase deficiency and McArdle's disease: measurement of plasma adenosine, inosine and hypoxanthine." Get all the results and reference details, order at left...
10.	Pyruvic Acid (Pyruvate)IBA 12/01/1992 - "CONCLUSION: These results suggest that patients with McArdle's disease may improve their muscle energy production by endurance training which enhances lipid metabolism, whereas in mitochondrial myopathies, the energy production by oxidation of pyruvate or lipids may be improved only by enzymatic substitution." Get all the results and reference details, order at left...
103 Drugs and Important Bio-Agents and 236 more articles analyzed in the Full Patient-Physician Summary Report, order at left...

Therapies and Procedures

1.	Exercise (Aerobic Exercise) 10/01/2007 - "Recent studies showed improvement in exercise capacity after regular aerobic exercise training in patients with McArdle's disease and mitochondrial myopathies" Get all the results and reference details, order at left...
2.	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)" Get all the results and reference details, order at left...
3.	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" Get all the results and reference details, order at left...
4.	Investigational Therapies (Experimental Therapy) 10/01/1992 - "Experimental therapies for McArdle's disease have been directed toward increasing substrate availability to exercising muscle" Get all the results and reference details, order at left...
5.	Lasers (Laser) 06/25/1987 - "NADH measured by laser fluorimetry in skeletal muscle in McArdle's disease." Get all the results and reference details, order at left...
7 Therapies and Procedures and 9 more articles analyzed in the Full Patient-Physician Summary Report, order at left...

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Research Summary Report
on Glycogen Storage Disease Type V

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