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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; GSD 5; GSD5; McArdle disease; McArdle type glycogen storage disease; Muscle glycogen phosphorylase deficiency; Myophosphorylase deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Glycogen storage disease type 5 (55912009); 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 (location): PYGM (11q13.1)
OMIM®: 232600
Orphanet: ORPHA368

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]
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.  https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v

Clinical features

Myoglobinuria
MedGen UID:
44557
Concept ID:
C0027080
Finding
Presence of myoglobin in the urine.
Rhabdomyolysis
MedGen UID:
19775
Concept ID:
C0035410
Pathologic Function
A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A reduction in the strength of one or more muscles.
Elevated serum creatine phosphokinase
MedGen UID:
69128
Concept ID:
C0241005
Finding
The caveolinopathies, a group of muscle diseases, can be classified into five phenotypes, which can be seen in different members of the same family: Limb-girdle muscular dystrophy 1C (LGMD1C), characterized by onset usually in the first decade, mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. Isolated hyperCKemia (i.e., elevated serum concentration of creatine kinase (CK) in the absence of signs of muscle disease) (HCK). Rippling muscle disease (RMD), characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Distal myopathy (DM), observed in one individual only Hypertrophic cardiomyopathy (HCM), without skeletal muscle manifestations.
Exercise-induced myalgia
MedGen UID:
340638
Concept ID:
C1850830
Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
Exercise-induced muscle cramps
MedGen UID:
383715
Concept ID:
C1855578
Finding
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.

Recent clinical studies

Etiology

Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2014 Nov 12;(11):CD003458. doi: 10.1002/14651858.CD003458.pub5. PMID: 25391139
Bollig G
Paediatr Anaesth 2013 Sep;23(9):817-23. Epub 2013 Apr 9 doi: 10.1111/pan.12164. PMID: 23565573
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. PMID: 21154353
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

Diagnosis

Scalco RS, Morrow JM, Booth S, Chatfield S, Godfrey R, Quinlivan R
Neuromuscul Disord 2017 Sep;27(9):852-855. Epub 2017 May 3 doi: 10.1016/j.nmd.2017.04.013. PMID: 28629675
Nogales-Gadea G, Godfrey R, Santalla A, Coll-Cantí J, Pintos-Morell G, Pinós T, Arenas J, Martín MA, Lucia A
Physiol Genomics 2016 Feb;48(2):93-100. Epub 2015 Oct 13 doi: 10.1152/physiolgenomics.00076.2015. PMID: 26465709
Nogales-Gadea G, Santalla A, Brull A, de Luna N, Lucia A, Pinós T
J Inherit Metab Dis 2015 Mar;38(2):221-30. Epub 2014 Jul 23 doi: 10.1007/s10545-014-9743-2. PMID: 25053163
Park HJ, Shin HY, Cho YN, Kim SM, Choi YC
J Korean Med Sci 2014 Jul;29(7):1021-4. Epub 2014 Jul 11 doi: 10.3346/jkms.2014.29.7.1021. PMID: 25045239Free PMC Article
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

Therapy

Ayerza-Casas V, Ferreira-Laso L, Alloza-Fortun MC, Fraile-Jimenez AE
Rev Esp Anestesiol Reanim 2015 Feb;62(2):101-3. Epub 2014 Jul 14 doi: 10.1016/j.redar.2014.03.017. PMID: 25034937
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2014 Nov 12;(11):CD003458. doi: 10.1002/14651858.CD003458.pub5. PMID: 25391139
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. PMID: 21154353
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

Prognosis

De Castro M, Johnston J, Biesecker L
Genet Med 2015 Dec;17(12):1002-6. Epub 2015 Mar 5 doi: 10.1038/gim.2015.9. PMID: 25741863Free PMC Article
Nogales-Gadea G, Santalla A, Brull A, de Luna N, Lucia A, Pinós T
J Inherit Metab Dis 2015 Mar;38(2):221-30. Epub 2014 Jul 23 doi: 10.1007/s10545-014-9743-2. PMID: 25053163
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. PMID: 22250184
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. PMID: 21658951

Clinical prediction guides

Nogales-Gadea G, Santalla A, Brull A, de Luna N, Lucia A, Pinós T
J Inherit Metab Dis 2015 Mar;38(2):221-30. Epub 2014 Jul 23 doi: 10.1007/s10545-014-9743-2. PMID: 25053163
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2014 Nov 12;(11):CD003458. doi: 10.1002/14651858.CD003458.pub5. PMID: 25391139
Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2010 Dec 8;(12):CD003458. doi: 10.1002/14651858.CD003458.pub4. PMID: 21154353
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

Recent systematic reviews

Quinlivan R, Martinuzzi A, Schoser B
Cochrane Database Syst Rev 2014 Nov 12;(11):CD003458. doi: 10.1002/14651858.CD003458.pub5. PMID: 25391139
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
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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