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Acute rhabdomyolysis

MedGen UID:
813636
Concept ID:
C3807306
Finding
Synonym: Rhabdomyolysis, acute
 
HPO: HP:0008942

Definition

An acute form of rhabdomyolysis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Acute rhabdomyolysis

Conditions with this feature

Myoglobinuria, acute recurrent, autosomal recessive
MedGen UID:
340308
Concept ID:
C1849386
Disease or Syndrome
Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (232600), carnitine palmitoyltransferase deficiency (see 255110), and the Creteil variety of phosphoglycerate kinase deficiency (311800), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections (Ramesh and Gardner-Medwin, 1992). See 160010 for discussion of a possible autosomal dominant form of myoglobinuria. Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (145600), an autosomal dominant disorder.
Congenital cataracts-facial dysmorphism-neuropathy syndrome
MedGen UID:
346973
Concept ID:
C1858726
Congenital Abnormality
CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils), mildly dysmorphic facial features apparent in late childhood, and a hypo-/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade of life. Secondary foot deformities and scoliosis are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild nonprogressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and most have subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Romani population.
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
MedGen UID:
1798947
Concept ID:
C5567524
Disease or Syndrome
Individuals with TANGO2-related metabolic encephalopathy and arrhythmias can present in acute metabolic crisis (hypoglycemia, elevated lactate, mild hyperammonemia) or with developmental delay, regression, and/or seizures. The acute presentation varies from profound muscle weakness, ataxia, and/or disorientation to a comatose state. Individuals can present with intermittent acute episodes of rhabdomyolysis. The first episode of myoglobinuria has been known to occur as early as age five months. Acute renal tubular damage due to myoglobinuria can result in acute kidney injury and renal failure. During acute illness, transient electrocardiogram changes can be seen; the most common is QT prolongation. Life-threatening recurrent ventricular tachycardia or torsade de pointes occurs primarily during times of acute illness. Individuals who do not present in metabolic crises may present with gait incoordination, progressively unsteady gait, difficulty with speech, or clumsiness. Intellectual disability of variable severity is observed in almost all individuals. Seizures are observed outside the periods of crises in more than 75% of individuals. Hypothyroidism has been reported in more than one third of individuals.

Professional guidelines

PubMed

Hicks S, Miller BD
Emerg Med Pract 2023 Nov;25(11):1-20. Epub 2023 Nov 1 PMID: 37877728
Olpin SE, Murphy E, Kirk RJ, Taylor RW, Quinlivan R
J Clin Pathol 2015 Jun;68(6):410-7. Epub 2015 Apr 15 doi: 10.1136/jclinpath-2014-202808. PMID: 25878327
Delaney KA, Givens ML, Vohra RB
J Emerg Med 2012 May;42(5):521-8. Epub 2011 May 5 doi: 10.1016/j.jemermed.2011.03.008. PMID: 21549548

Recent clinical studies

Etiology

Gardner HM, Askenazi DJ, Hoefert JA, Helton A, Wu CL
Hosp Pediatr 2021 Aug;11(8):878-885. doi: 10.1542/hpeds.2020-005108. PMID: 34301717Free PMC Article
Godfrey R, Quinlivan R
Nat Rev Neurol 2016 Jul;12(7):393-402. Epub 2016 May 27 doi: 10.1038/nrneurol.2016.75. PMID: 27231184
Mastaglia FL, Needham M
Curr Neurol Neurosci Rep 2012 Feb;12(1):54-61. doi: 10.1007/s11910-011-0232-9. PMID: 21968786
Crum-Cianflone NF
Clin Microbiol Rev 2008 Jul;21(3):473-94. doi: 10.1128/CMR.00001-08. PMID: 18625683Free PMC Article
Hayes J, Veyckemans F, Bissonnette B
Paediatr Anaesth 2008 Feb;18(2):100-6. doi: 10.1111/j.1460-9592.2007.02302.x. PMID: 18184239

Diagnosis

Wu M, Yang D
Int J Clin Pharmacol Ther 2023 Dec;61(12):572-574. doi: 10.5414/CP204377. PMID: 37114513
Gardner HM, Askenazi DJ, Hoefert JA, Helton A, Wu CL
Hosp Pediatr 2021 Aug;11(8):878-885. doi: 10.1542/hpeds.2020-005108. PMID: 34301717Free PMC Article
Godfrey R, Quinlivan R
Nat Rev Neurol 2016 Jul;12(7):393-402. Epub 2016 May 27 doi: 10.1038/nrneurol.2016.75. PMID: 27231184
Heard H, Barker J
JAAPA 2016 May;29(5):29-32. doi: 10.1097/01.JAA.0000482294.31283.fe. PMID: 27049401
Fardeau M, Desguerre I
Handb Clin Neurol 2013;113:1291-7. doi: 10.1016/B978-0-444-59565-2.00001-0. PMID: 23622354

Therapy

Jerman A, Kovač D, Večerić-Haler Ž, Hočevar A, Ota A, Banović S, Lindič J
Clin Nephrol 2017 Supplement 1;88(13):32-34. doi: 10.5414/CNP88FX08. PMID: 28655386
Mastaglia FL, Needham M
Curr Neurol Neurosci Rep 2012 Feb;12(1):54-61. doi: 10.1007/s11910-011-0232-9. PMID: 21968786
Bolton CF
Muscle Nerve 2005 Aug;32(2):140-63. doi: 10.1002/mus.20304. PMID: 15825186
Parks JM, Reed G, Knochel JP
Am J Med Sci 1989 May;297(5):334-6. doi: 10.1097/00000441-198905000-00013. PMID: 2719058
Cogen FC, Rigg G, Simmons JL, Domino EF
Ann Intern Med 1978 Feb;88(2):210-2. doi: 10.7326/0003-4819-88-2-210. PMID: 626451

Prognosis

Gardner HM, Askenazi DJ, Hoefert JA, Helton A, Wu CL
Hosp Pediatr 2021 Aug;11(8):878-885. doi: 10.1542/hpeds.2020-005108. PMID: 34301717Free PMC Article
Jerman A, Kovač D, Večerić-Haler Ž, Hočevar A, Ota A, Banović S, Lindič J
Clin Nephrol 2017 Supplement 1;88(13):32-34. doi: 10.5414/CNP88FX08. PMID: 28655386
Heard H, Barker J
JAAPA 2016 May;29(5):29-32. doi: 10.1097/01.JAA.0000482294.31283.fe. PMID: 27049401
Bolton CF
Muscle Nerve 2005 Aug;32(2):140-63. doi: 10.1002/mus.20304. PMID: 15825186
Parks JM, Reed G, Knochel JP
Am J Med Sci 1989 May;297(5):334-6. doi: 10.1097/00000441-198905000-00013. PMID: 2719058

Clinical prediction guides

Pizzamiglio C, Mahroo OA, Khan KN, Patasin M, Quinlivan R
J Inherit Metab Dis 2021 Nov;44(6):1409-1418. Epub 2021 Sep 22 doi: 10.1002/jimd.12438. PMID: 34534370
Gardner HM, Askenazi DJ, Hoefert JA, Helton A, Wu CL
Hosp Pediatr 2021 Aug;11(8):878-885. doi: 10.1542/hpeds.2020-005108. PMID: 34301717Free PMC Article
Pizzamiglio C, Lahiri N, Nirmalananthan N, Sood B, Somalanka S, Ostrowski P, Phadke R, O'Donovan DG, Muntoni F, Quinlivan R
Neuromuscul Disord 2020 Jul;30(7):566-571. Epub 2020 May 21 doi: 10.1016/j.nmd.2020.05.004. PMID: 32522502
Heard H, Barker J
JAAPA 2016 May;29(5):29-32. doi: 10.1097/01.JAA.0000482294.31283.fe. PMID: 27049401
Watanabe T
Pediatr Nephrol 2001 Dec;16(12):1072-5. doi: 10.1007/s004670100030. PMID: 11793103

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