Format

Send to:

Choose Destination

Rhabdomyolysis

MedGen UID:
19775
Concept ID:
C0035410
Pathologic Function
Synonyms: Rhabdomyolyses
SNOMED CT: Rhabdomyolysis (89010004); Rhabdomyolysis (240131006)
 
HPO: HP:0003201

Definition

Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. [from MeSH]

Conditions with this feature

Glycogen storage disease, type V
MedGen UID:
5341
Concept ID:
C0017924
Disease or Syndrome
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.
Malignant hyperthermia susceptibility
MedGen UID:
9867
Concept ID:
C0024591
Disease or Syndrome
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances release calcium stores from the sarcoplasmic reticulum and may promote entry of calcium from the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience: acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some affected individuals will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
Muscle AMP deaminase deficiency
MedGen UID:
78640
Concept ID:
C0268123
Disease or Syndrome
Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., Verzijl et al., 1998) that AMPD1 deficiency may be a harmless entity (summary by Castro-Gago et al., 2011). Genetta et al. (2001) stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to Genetta et al. (2001).
Glycogen storage disease type X
MedGen UID:
120613
Concept ID:
C0268149
Disease or Syndrome
Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure.In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.
Thyrotoxic periodic paralysis
MedGen UID:
120639
Concept ID:
C0268446
Disease or Syndrome
Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; 170400), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by Kung, 2006). Genetic Heterogeneity of Thyrotoxic Periodic Paralysis See also TTPP2 (613239), conferred by variation in the KCNJ18 gene (613236) on chromosome 17p11, and TTPP3 (614834), mapped to chromosome 17q24.
Mitochondrial trifunctional protein deficiency
MedGen UID:
87460
Concept ID:
C0342786
Disease or Syndrome
The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS; 272120), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003). Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003). See also isolated LCHAD deficiency (609016), which is caused by mutation in the HADHA gene.
Carnitine acylcarnitine translocase deficiency
MedGen UID:
91000
Concept ID:
C0342791
Disease or Syndrome
Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. However, presentations at a later age with a milder phenotype have been reported (summary by Rubio-Gozalbo et al., 2004).
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
MedGen UID:
371584
Concept ID:
C1833508
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Malignant hyperthermia susceptibility type 4
MedGen UID:
324944
Concept ID:
C1838102
Disease or Syndrome
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances release calcium stores from the sarcoplasmic reticulum and may promote entry of calcium from the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience: acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some affected individuals will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
King Denborough syndrome
MedGen UID:
327082
Concept ID:
C1840365
Disease or Syndrome
Myopathy with lactic acidosis, hereditary
MedGen UID:
342573
Concept ID:
C1850718
Disease or Syndrome
Myopathy with deficiency of ISCU, a mitochondrial myopathy, is classically characterized by lifelong exercise intolerance in which minor exertion causes tachycardia, shortness of breath, fatigue, and pain of active muscles; episodes of more profound exercise intolerance associated with rhabdomyolysis, myoglobinuria, and weakness that may be severe; and typically full recovery of muscle strength between episodes of rhabdomyolysis. Affected individuals usually have near-normal strength; they can have large calves.
Mitochondrial complex III deficiency
MedGen UID:
377658
Concept ID:
C1852372
Disease or Syndrome
Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003). Genetic Heterogeneity of Mitochondrial Complex III Deficiency Mitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 (615157), caused by mutation in the TTC19 gene (613814) on chromosome 17p12; MC3DN3 (615158), caused by mutation in the UQCRB gene (191330) on chromosome 8q; MC3DN4 (615159), caused by mutation in the UQCRQ gene (612080) on chromosome 5q31; MC3DN5 (615160), caused by mutation in the UQCRC2 gene (191329) on chromosome 16p12; MC3DN6 (615453), caused by mutation in the CYC1 gene (123980) on chromosome 8q24; MC3DN7 (615824), caused by mutation in the UQCC2 gene (614461) on chromosome 6p21; MC3DN8 (615838), caused by mutation in the LYRM7 gene (615831) on chromosome 5q23; and MC3DN9 (616111), caused by mutation in the UQCC3 gene (616097) on chromosome 11q12. See also MTYCB (516020) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.
Combined oxidative phosphorylation deficiency 3
MedGen UID:
355842
Concept ID:
C1864840
Disease or Syndrome
Medium-chain 3-ketoacyl-CoA thiolase deficiency
MedGen UID:
356367
Concept ID:
C1865781
Disease or Syndrome
Phosphoglycerate kinase 1 deficiency
MedGen UID:
410166
Concept ID:
C1970848
Disease or Syndrome
Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).
Congenital disorder of glycosylation type 1t
MedGen UID:
414536
Concept ID:
C2752015
Disease or Syndrome
Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014). For a discussion of the classification of CDGs, see CDG1A (212065).
Glycogen storage disease XI
MedGen UID:
416688
Concept ID:
C2752022
Disease or Syndrome
Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency.People with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people with lactate dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Some people with lactate dehydrogenase-A deficiency develop skin rashes. The severity of the signs and symptoms among individuals with lactate dehydrogenase-A deficiency varies greatly.People with lactate dehydrogenase-B deficiency typically do not have any signs or symptoms of the condition. They do not have difficulty with physical activity or any specific physical features related to the condition. Affected individuals are usually discovered only when routine blood tests reveal reduced lactate dehydrogenase activity.

Recent clinical studies

Etiology

Saxena P, Chavarria C, Thurlow J
US Army Med Dep J 2016 Jan-Mar:20-3. PMID: 26874092
Lahoria R, Milone M
J Neurol Sci 2016 Feb 15;361:29-33. Epub 2015 Dec 10 doi: 10.1016/j.jns.2015.12.013. PMID: 26810512
Gelpi-Hammerschmidt F, Tinay I, Allard CB, Su LM, Preston MA, Trinh QD, Kibel AS, Wang Y, Chung BI, Chang SL
J Urol 2016 Feb;195(2):399-405. Epub 2015 Aug 28 doi: 10.1016/j.juro.2015.08.084. PMID: 26321407
Tsai WJ, Lee SS, Tsai HC, Sy CL, Chen JK, Wu KS, Wang YH, Chen YS
J Microbiol Immunol Infect 2016 Apr;49(2):286-8. Epub 2013 Apr 21 doi: 10.1016/j.jmii.2013.02.008. PMID: 23612027
Terry RS, Gerke T, Mason JB, Sorensen MD, Joseph JP, Dahm P, Su LM
J Robot Surg 2015 Sep;9(3):195-200. Epub 2015 Jun 20 doi: 10.1007/s11701-015-0515-2. PMID: 26531199

Diagnosis

Saxena P, Chavarria C, Thurlow J
US Army Med Dep J 2016 Jan-Mar:20-3. PMID: 26874092
Lahoria R, Milone M
J Neurol Sci 2016 Feb 15;361:29-33. Epub 2015 Dec 10 doi: 10.1016/j.jns.2015.12.013. PMID: 26810512
Tabata S, Suzuki Y, Azuma K, Matsumoto H
J Strength Cond Res 2016 Jul;30(7):2064-8. doi: 10.1519/JSC.0000000000001295. PMID: 26677831
Gelpi-Hammerschmidt F, Tinay I, Allard CB, Su LM, Preston MA, Trinh QD, Kibel AS, Wang Y, Chung BI, Chang SL
J Urol 2016 Feb;195(2):399-405. Epub 2015 Aug 28 doi: 10.1016/j.juro.2015.08.084. PMID: 26321407
Lin S, Mu M, Yang F, Yang C
Wilderness Environ Med 2015 Sep;26(3):380-3. Epub 2015 Jul 27 doi: 10.1016/j.wem.2015.03.027. PMID: 26228492

Therapy

Dalbjerg SM, Tsakiri A, Frederiksen JL
Mult Scler Relat Disord 2016 Jul;8:93-5. Epub 2016 May 16 doi: 10.1016/j.msard.2016.05.005. PMID: 27456881
Jiang W, Wang X, Zhou S
Expert Opin Drug Saf 2016;15(3):357-65. Epub 2016 Feb 20 doi: 10.1517/14740338.2016.1139572. PMID: 26750987
Grimmer NM, Gimbar RP, Bursua A, Patel M
J Emerg Med 2016 Feb;50(2):e71-4. Epub 2015 Oct 9 doi: 10.1016/j.jemermed.2015.09.006. PMID: 26482831
Tsai WJ, Lee SS, Tsai HC, Sy CL, Chen JK, Wu KS, Wang YH, Chen YS
J Microbiol Immunol Infect 2016 Apr;49(2):286-8. Epub 2013 Apr 21 doi: 10.1016/j.jmii.2013.02.008. PMID: 23612027
Terry RS, Gerke T, Mason JB, Sorensen MD, Joseph JP, Dahm P, Su LM
J Robot Surg 2015 Sep;9(3):195-200. Epub 2015 Jun 20 doi: 10.1007/s11701-015-0515-2. PMID: 26531199

Prognosis

Saxena P, Chavarria C, Thurlow J
US Army Med Dep J 2016 Jan-Mar:20-3. PMID: 26874092
Jiang W, Wang X, Zhou S
Expert Opin Drug Saf 2016;15(3):357-65. Epub 2016 Feb 20 doi: 10.1517/14740338.2016.1139572. PMID: 26750987
Gelpi-Hammerschmidt F, Tinay I, Allard CB, Su LM, Preston MA, Trinh QD, Kibel AS, Wang Y, Chung BI, Chang SL
J Urol 2016 Feb;195(2):399-405. Epub 2015 Aug 28 doi: 10.1016/j.juro.2015.08.084. PMID: 26321407
Terry RS, Gerke T, Mason JB, Sorensen MD, Joseph JP, Dahm P, Su LM
J Robot Surg 2015 Sep;9(3):195-200. Epub 2015 Jun 20 doi: 10.1007/s11701-015-0515-2. PMID: 26531199
Lin S, Mu M, Yang F, Yang C
Wilderness Environ Med 2015 Sep;26(3):380-3. Epub 2015 Jul 27 doi: 10.1016/j.wem.2015.03.027. PMID: 26228492

Clinical prediction guides

Stewart IJ, Faulk TI, Sosnov JA, Clemens MS, Elterman J, Ross JD, Howard JT, Fang R, Zonies DH, Chung KK
J Trauma Acute Care Surg 2016 Mar;80(3):492-8. doi: 10.1097/TA.0000000000000933. PMID: 26670111
Cournac JM, Karkowski L, Bordes J, Aletti M, Duron S, Janvier F, Foissaud V, Savini H, de Greslan T, Rousseau C, Billhot M, Gagnon N, Mac Nab C, Dubrous P, Moroge S, Broto H, Cotte J, Maugey N, Cordier PY, Sagui E, Merens A, Rapp C, Quentin B, Granier H, Carmoi T, Cellarier G
Clin Infect Dis 2016 Jan 1;62(1):19-23. Epub 2015 Sep 3 doi: 10.1093/cid/civ779. PMID: 26338789
Elterman J, Zonies D, Stewart I, Fang R, Schreiber M
J Trauma Acute Care Surg 2015 Oct;79(4 Suppl 2):S171-4. doi: 10.1097/TA.0000000000000572. PMID: 26131786
Tsai WH, Huang ST, Liu WC, Chen LW, Yang KC, Hsu KC, Lin CT, Ho YY
Ann Plast Surg 2015 May;74 Suppl 2:S158-61. doi: 10.1097/SAP.0000000000000460. PMID: 25785380
Belliere J, Casemayou A, Ducasse L, Zakaroff-Girard A, Martins F, Iacovoni JS, Guilbeau-Frugier C, Buffin-Meyer B, Pipy B, Chauveau D, Schanstra JP, Bascands JL
J Am Soc Nephrol 2015 Jun;26(6):1363-77. Epub 2014 Sep 30 doi: 10.1681/ASN.2014040320. PMID: 25270069Free PMC Article

Recent systematic reviews

Safari S, Yousefifard M, Hashemi B, Baratloo A, Forouzanfar MM, Rahmati F, Motamedi M, Najafi I
Clin Exp Nephrol 2016 Apr;20(2):153-61. Epub 2016 Jan 23 doi: 10.1007/s10157-015-1204-1. PMID: 26801932
Zeng X, Zhang L, Wu T, Fu P
Cochrane Database Syst Rev 2014 Jun 15;(6):CD008566. doi: 10.1002/14651858.CD008566.pub2. PMID: 24929959
Star K, Iessa N, Almandil NB, Wilton L, Curran S, Edwards IR, Wong IC
J Child Adolesc Psychopharmacol 2012 Dec;22(6):440-51. doi: 10.1089/cap.2011.0134. PMID: 23234587
Parekh R, Care DA, Tainter CR
Emerg Med Pract 2012 Mar;14(3):1-15; quiz 15. PMID: 22497086
von Vigier RO, Ortisi MT, La Manna A, Bianchetti MG, Bettinelli A
Pediatr Nephrol 2010 May;25(5):861-6. Epub 2009 Dec 22 doi: 10.1007/s00467-009-1388-2. PMID: 20033223

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center