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Glycogen storage disease, type V(GSD5)

MedGen UID:
5341
Concept ID:
C0017924
Disease or Syndrome
Synonyms: Glycogen storage disease type 5; GLYCOGEN STORAGE DISEASE V; glycogenosis 5; GSD 5; GSD type V; GSD V; GSD5; McArdle disease; McArdle syndrome; McArdle type glycogen storage disease; McArdle's disease; Muscle glycogen phosphorylase deficiency; muscle phosphorylase deficiency; Myophosphorylase deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Glycogenosis, type 5 (55912009); McArdle disease (55912009); Glycogen storage disease type V (55912009); Glycogen storage disease, type V (55912009); Myophosphorylase deficiency glycogenosis (55912009); McArdle's disease (55912009); GSD V (55912009); Muscle glycogen phosphorylase deficiency (55912009)
 
Gene: PYGM
Cytogenetic location: 11q13.1
OMIM: 232600

Disease characteristics

Excerpted from the GeneReview: Glycogen Storage Disease Type V
Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms usually are precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exercise tolerance by exploiting the "second wind" phenomenon with relief of myalgia and fatigue after a few minutes of rest. Age of onset is frequently in the first decade of life but can vary. Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age. Approximately 50% of affected individuals have recurrent episodes of myoglobinuria that could eventually result in acute renal failure, although reported cases are rare. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Miguel A Martín  |  Alejandro Lucía  |  Joaquin Arenas, et. al.   view full author information

Additional descriptions

From OMIM
McArdle disease is an autosomal recessive metabolic disorder characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria (summary by Chen, 2001).  http://www.omim.org/entry/232600
From GHR
Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Exercise such as weight lifting or jogging usually triggers these symptoms in affected individuals. The discomfort is generally alleviated with rest. If individuals rest after brief exercise and wait for their pain to go away, they can usually resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind"). Prolonged or intense exercise can cause muscle damage in people with GSDV. About half of people with GSDV experience breakdown of muscle tissue (rhabdomyolysis). In severe episodes, the destruction of muscle tissue releases a protein called myoglobin, which is filtered through the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, and it is estimated that half of those individuals with GSDV who have myoglobinuria will develop life-threatening kidney failure. The signs and symptoms of GSDV can vary significantly in affected individuals. The features of this condition typically begin in a person's teens or twenties, but they can appear anytime from infancy to adulthood. In most people with GSDV, the muscle weakness worsens over time; however, in about one-third of affected individuals, the muscle weakness is stable. Some people with GSDV experience mild symptoms such as poor stamina; others do not experience any symptoms.  http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v

Clinical features

Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Abnormality of the cardiovascular system
MedGen UID:
427888
Concept ID:
CN001481
Finding
Any abnormality of the `cardiovascular system` (FMA:7161).
Elevated serum creatine phosphokinase
MedGen UID:
505493
Concept ID:
CN002923
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A reduction in the strength of one or more muscles.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Rhabdomyolysis
MedGen UID:
505480
Concept ID:
CN002889
Finding
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Exercise-induced muscle cramps
MedGen UID:
505579
Concept ID:
CN003353
Finding
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
Exercise-induced myalgia
MedGen UID:
505583
Concept ID:
CN003377
Finding
The occurrence of an unusually high amount of muscle pain following exercise.

Recent clinical studies

Etiology

Dahlqvist JR, Voss LG, Lauridsen T, Krag TO, Vissing J
Muscle Nerve 2014 Feb;49(2):261-6. Epub 2013 Aug 30 doi: 10.1002/mus.23909. [Epub ahead of print] PMID: 23716353
Bollig G
Paediatr Anaesth 2013 Sep;23(9):817-23. Epub 2013 Apr 9 doi: 10.1111/pan.12164. [Epub ahead of print] PMID: 23565573
García-Benítez S, Fleck SJ, Naclerio F, Martín MA, Lucia A
J Child Neurol 2013 Jun;28(6):805-8. Epub 2012 Jul 25 doi: 10.1177/0883073812451328. [Epub ahead of print] PMID: 22832773
Miteff F, Potter HC, Allen J, Teoh H, Roxburgh R, Hutchinson DO
J Clin Neurosci 2011 Aug;18(8):1055-8. Epub 2011 Jun 11 doi: 10.1016/j.jocn.2010.12.033. [Epub ahead of print] PMID: 21658951
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. PMID: 21154353

Diagnosis

Witting N, Duno M, Piraud M, Vissing J
JAMA Neurol 2014 Jan;71(1):88-90. doi: 10.1001/jamaneurol.2013.3209. PMID: 24216972
Keel BR, Brit M
Tenn Med 2013 Nov-Dec;106(10):33, 37. PMID: 24282836
García-Benítez S, Fleck SJ, Naclerio F, Martín MA, Lucia A
J Child Neurol 2013 Jun;28(6):805-8. Epub 2012 Jul 25 doi: 10.1177/0883073812451328. [Epub ahead of print] PMID: 22832773
Krishnamoorthy N, Santosh V, Yasha TC, Mahadevan A, Shankar SK, Jethwani D, Taly AB, Bhanu K, Gayathri N
Neurol India 2011 Nov-Dec;59(6):884-6. doi: 10.4103/0028-3886.91370. PMID: 22234204
Miteff F, Potter HC, Allen J, Teoh H, Roxburgh R, Hutchinson DO
J Clin Neurosci 2011 Aug;18(8):1055-8. Epub 2011 Jun 11 doi: 10.1016/j.jocn.2010.12.033. [Epub ahead of print] PMID: 21658951

Therapy

McCormick Z, Chu SK, Chang-Chien GC, Joseph P
Pain Med 2013 Aug;14(8):1187-91. Epub 2013 May 3 doi: 10.1111/pme.12135. [Epub ahead of print] PMID: 23647815
García-Benítez S, Fleck SJ, Naclerio F, Martín MA, Lucia A
J Child Neurol 2013 Jun;28(6):805-8. Epub 2012 Jul 25 doi: 10.1177/0883073812451328. [Epub ahead of print] PMID: 22832773
Lucia A, Quinlivan R, Wakelin A, Martín MA, Andreu AL
Br J Sports Med 2013 Aug;47(12):728-9. Epub 2012 Jun 29 doi: 10.1136/bjsports-2012-091130. [Epub ahead of print] PMID: 22753862
Sato S, Ohi T, Nishino I, Sugie H
Muscle Nerve 2012 Mar;45(3):436-40. doi: 10.1002/mus.22290. PMID: 22334182
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. PMID: 21154353

Prognosis

Sato S, Ohi T, Nishino I, Sugie H
Muscle Nerve 2012 Mar;45(3):436-40. doi: 10.1002/mus.22290. PMID: 22334182
Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, García-Consuegra I, Cabello A, Pérez M, Teijeira S, Vieitez I, Navarro C, Arenas J, Martin MA, Andreu AL
J Neurol Neurosurg Psychiatry 2012 Mar;83(3):322-8. Epub 2012 Jan 16 doi: 10.1136/jnnp-2011-301593. [Epub ahead of print] PMID: 22250184
Wu Y, Weber JL, Vladutiu GD, Tarnopolsky MA
Mol Genet Metab 2011 Dec;104(4):587-91. Epub 2011 Aug 16 doi: 10.1016/j.ymgme.2011.08.012. [Epub ahead of print] PMID: 21880526
Miteff F, Potter HC, Allen J, Teoh H, Roxburgh R, Hutchinson DO
J Clin Neurosci 2011 Aug;18(8):1055-8. Epub 2011 Jun 11 doi: 10.1016/j.jocn.2010.12.033. [Epub ahead of print] PMID: 21658951
Duno M, Quinlivan R, Vissing J, Schwartz M
Ann Hum Genet 2009 May;73(Pt 3):292-7. PMID: 19472443

Clinical prediction guides

Witting N, Duno M, Piraud M, Vissing J
JAMA Neurol 2014 Jan;71(1):88-90. doi: 10.1001/jamaneurol.2013.3209. PMID: 24216972
Dahlqvist JR, Voss LG, Lauridsen T, Krag TO, Vissing J
Muscle Nerve 2014 Feb;49(2):261-6. Epub 2013 Aug 30 doi: 10.1002/mus.23909. [Epub ahead of print] PMID: 23716353
Kitaoka Y, Ogborn DI, Nilsson MI, Mocellin NJ, MacNeil LG, Tarnopolsky MA
Mol Genet Metab 2013 Nov;110(3):297-302. Epub 2013 Jul 6 doi: 10.1016/j.ymgme.2013.06.022. [Epub ahead of print] PMID: 23906480
Miteff F, Potter HC, Allen J, Teoh H, Roxburgh R, Hutchinson DO
J Clin Neurosci 2011 Aug;18(8):1055-8. Epub 2011 Jun 11 doi: 10.1016/j.jocn.2010.12.033. [Epub ahead of print] PMID: 21658951
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. PMID: 21154353

Recent systematic reviews

Quinlivan R, Vissing J, Hilton-Jones D, Buckley J
Cochrane Database Syst Rev 2011 Dec 7;(12):CD007931. doi: 10.1002/14651858.CD007931.pub2. PMID: 22161416
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. PMID: 21154353
Benca J, Hogan K
Anesth Analg 2009 Oct;109(4):1049-53. doi: 10.1213/ane.0b013e3181adca28. PMID: 19762731
Quinlivan R, Beynon RJ, Martinuzzi A
Cochrane Database Syst Rev 2008 Apr 16;(2):CD003458. doi: 10.1002/14651858.CD003458.pub3. PMID: 18425888
Quinlivan R, Beynon RJ
Cochrane Database Syst Rev 2004;(3):CD003458. doi: 10.1002/14651858.CD003458.pub2. PMID: 15266486

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