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Rhabdomyolysis

MedGen UID:
505480
Concept ID:
CN002889
Finding
 
HPO: HP:0003201

Definition

Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. [from HPO]

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 17q24.3.
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, LATE-ONSET
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 is 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 characterized by lifelong exercise intolerance in which minor exertion causes tachycardia, shortness of breath, and 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).
Glycogen Storage Disease XIV
MedGen UID:
414536
Concept ID:
C2752015
Disease or Syndrome
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.
Congenital disorder of glycosylation type 1t
MedGen UID:
766970
Concept ID:
C3554056
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).

Recent clinical studies

Etiology

Diaz JH
Clin Toxicol (Phila) 2015 Jun;53(5):421-6. Epub 2015 Mar 19 doi: 10.3109/15563650.2015.1016165. [Epub ahead of print] PMID: 25789572
Huang SY, Lee IK, Liu JW, Kung CT, Wang L
Am J Trop Med Hyg 2015 Jan;92(1):75-81. Epub 2014 Oct 27 doi: 10.4269/ajtmh.14-0343. [Epub ahead of print] PMID: 25349377Free PMC Article
Chan JL, Imai T, Barmparas G, Lee JB, Lamb AW, Melo N, Margulies D, Ley EJ
Am Surg 2014 Oct;80(10):1012-7. PMID: 25264650
Hsu YC, Yeh YW
J Clin Pharm Ther 2014 Dec;39(6):698-700. Epub 2014 Sep 9 doi: 10.1111/jcpt.12205. [Epub ahead of print] PMID: 25203795
van Staa TP, Carr DF, O'Meara H, McCann G, Pirmohamed M
Br J Clin Pharmacol 2014 Sep;78(3):649-59. doi: 10.1111/bcp.12367. PMID: 24602118Free PMC Article

Diagnosis

Diaz JH
Clin Toxicol (Phila) 2015 Jun;53(5):421-6. Epub 2015 Mar 19 doi: 10.3109/15563650.2015.1016165. [Epub ahead of print] PMID: 25789572
Nance JR, Mammen AL
Muscle Nerve 2015 Jun;51(6):793-810. Epub 2015 Mar 14 doi: 10.1002/mus.24606. [Epub ahead of print] PMID: 25678154Free PMC Article
Huang SY, Lee IK, Liu JW, Kung CT, Wang L
Am J Trop Med Hyg 2015 Jan;92(1):75-81. Epub 2014 Oct 27 doi: 10.4269/ajtmh.14-0343. [Epub ahead of print] PMID: 25349377Free PMC Article
Chan JL, Imai T, Barmparas G, Lee JB, Lamb AW, Melo N, Margulies D, Ley EJ
Am Surg 2014 Oct;80(10):1012-7. PMID: 25264650
Zutt R, van der Kooi AJ, Linthorst GE, Wanders RJ, de Visser M
Neuromuscul Disord 2014 Aug;24(8):651-9. Epub 2014 May 21 doi: 10.1016/j.nmd.2014.05.005. [Epub ahead of print] PMID: 24946698

Therapy

Diaz JH
Clin Toxicol (Phila) 2015 Jun;53(5):421-6. Epub 2015 Mar 19 doi: 10.3109/15563650.2015.1016165. [Epub ahead of print] PMID: 25789572
Goldberg A
A A Case Rep 2015 Mar 15;4(6):75-7. doi: 10.1213/XAA.0000000000000122. PMID: 25774753
Hsu YC, Yeh YW
J Clin Pharm Ther 2014 Dec;39(6):698-700. Epub 2014 Sep 9 doi: 10.1111/jcpt.12205. [Epub ahead of print] PMID: 25203795
Parkin L, Paul C, Herbison GP
Int J Cardiol 2014 Jun 1;174(1):83-9. Epub 2014 Mar 28 doi: 10.1016/j.ijcard.2014.03.150. [Epub ahead of print] PMID: 24726164
van Staa TP, Carr DF, O'Meara H, McCann G, Pirmohamed M
Br J Clin Pharmacol 2014 Sep;78(3):649-59. doi: 10.1111/bcp.12367. PMID: 24602118Free PMC Article

Prognosis

Diaz JH
Clin Toxicol (Phila) 2015 Jun;53(5):421-6. Epub 2015 Mar 19 doi: 10.3109/15563650.2015.1016165. [Epub ahead of print] PMID: 25789572
Lahoria R, Winder TL, Lui J, Al-Owain MA, Milone M
Muscle Nerve 2014 Oct;50(4):610-3. Epub 2014 Aug 30 doi: 10.1002/mus.24302. [Epub ahead of print] PMID: 24889862
Armed Forces Health Surveillance Center (AFHSC)
MSMR 2014 Mar;21(3):14-7. PMID: 24684616
Sudarsanan S, Omar AS, Pattath RA, Al Mulla A
BMC Res Notes 2014 Mar 17;7:152. doi: 10.1186/1756-0500-7-152. [Epub ahead of print] PMID: 24636137Free PMC Article
van Staa TP, Carr DF, O'Meara H, McCann G, Pirmohamed M
Br J Clin Pharmacol 2014 Sep;78(3):649-59. doi: 10.1111/bcp.12367. PMID: 24602118Free PMC Article

Clinical prediction guides

Lahoria R, Winder TL, Lui J, Al-Owain MA, Milone M
Muscle Nerve 2014 Oct;50(4):610-3. Epub 2014 Aug 30 doi: 10.1002/mus.24302. [Epub ahead of print] PMID: 24889862
van Staa TP, Carr DF, O'Meara H, McCann G, Pirmohamed M
Br J Clin Pharmacol 2014 Sep;78(3):649-59. doi: 10.1111/bcp.12367. PMID: 24602118Free PMC Article
Zimmerman JL, Shen MC
Chest 2013 Sep;144(3):1058-65. doi: 10.1378/chest.12-2016. PMID: 24008958
Chen CY, Lin YR, Zhao LL, Yang WC, Chang YJ, Wu KH, Wu HP
BMC Pediatr 2013 Sep 3;13:134. doi: 10.1186/1471-2431-13-134. [Epub ahead of print] PMID: 24004920Free PMC Article
McMahon GM, Zeng X, Waikar SS
JAMA Intern Med 2013 Oct 28;173(19):1821-8. doi: 10.1001/jamainternmed.2013.9774. PMID: 24000014

Recent systematic reviews

Chakravartty S, Sarma DR, Patel AG
Obes Surg 2013 Aug;23(8):1333-40. doi: 10.1007/s11695-013-0913-3. PMID: 23564464
Scharman EJ, Troutman WG
Ann Pharmacother 2013 Jan;47(1):90-105. Epub 2013 Jan 16 doi: 10.1345/aph.1R215. [Epub ahead of print] PMID: 23324509
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. [Epub ahead of print] PMID: 20033223

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