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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
TANGO2 deficiency is characterized by developmental delay, intellectual disability, gait incoordination, speech difficulties, seizures, and hypothyroidism. Most individuals have TANGO2 spells, non-life-threatening paroxysmal worsening of baseline symptoms, including sudden onset of hypotonia, ataxia with loss of balance, head and body tilt, increased dysarthria, drooling, lethargy, and disorientation. In addition, life-threatening acute metabolic crises can occur, including rhabdomyolysis with elevated creatine phosphokinase and liver transaminases, hypoglycemia, prolonged QTc on EKG, ventricular arrhythmias, and/or cardiomyopathy.

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
Rock M
JEMS 2009 Jan;34(1):32, 36. doi: 10.1016/S0197-2510(09)70014-2. PMID: 19245954

Recent clinical studies

Etiology

Heytens K, De Ridder W, De Bleecker J, Heytens L, Baets J
Anaesth Intensive Care 2019 Mar;47(2):128-133. Epub 2019 May 9 doi: 10.1177/0310057X19835830. PMID: 31070454
Bandeira AC, Campos GS, Ribeiro GS, Cardoso CW, Bastos CJ, Pessoa TL, Araujo KA, Grassi MFR, Castro AP, Carvalho RH, Prates APPB, Gois LL, Rocha VF, Sardi SI
Euro Surveill 2017 Jun 15;22(24) doi: 10.2807/1560-7917.ES.2017.22.24.30552. PMID: 28661391Free 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
Kogan AD, Orenstein S
Postgrad Med J 1990 Apr;66(774):294-6. doi: 10.1136/pgmj.66.774.294. PMID: 2385552Free PMC Article

Diagnosis

Oishi H, Numasawa T, Nohmi S, Nitobe Y, Ono H, Nagaoki T, Izawa T, Nodagashira T, Konn A
J Orthop Sci 2024 Jan;29(1):361-365. Epub 2022 Mar 7 doi: 10.1016/j.jos.2022.01.016. PMID: 35272916
Thomas-Wilson A, Dharmadhikari AV, Heymann JJ, Jobanputra V, DiMauro S, Hirano M, Naini AB, Ganapathi M
Cold Spring Harb Mol Case Stud 2022 Feb;8(2) Epub 2022 Mar 24 doi: 10.1101/mcs.a006173. PMID: 35022222Free PMC Article
Heytens K, De Ridder W, De Bleecker J, Heytens L, Baets J
Anaesth Intensive Care 2019 Mar;47(2):128-133. Epub 2019 May 9 doi: 10.1177/0310057X19835830. PMID: 31070454
Türkmen İ, Esenkaya İ, Unay K, Akçal MA
Acta Orthop Traumatol Turc 2015;49(3):338-41. doi: 10.3944/AOTT.2015.13.0117. PMID: 26200417
Hynes JE, Jackson A
Postgrad Med J 1994 Mar;70(821):210-2. doi: 10.1136/pgmj.70.821.210. PMID: 8183756Free PMC Article

Therapy

Sauliunaite V, Vecsernyés N, Coronado M
BMJ Case Rep 2024 Apr 2;17(4) doi: 10.1136/bcr-2023-255983. PMID: 38569733Free PMC Article
Türkmen İ, Esenkaya İ, Unay K, Akçal MA
Acta Orthop Traumatol Turc 2015;49(3):338-41. doi: 10.3944/AOTT.2015.13.0117. PMID: 26200417
Mastaglia FL, Needham M
Curr Neurol Neurosci Rep 2012 Feb;12(1):54-61. doi: 10.1007/s11910-011-0232-9. PMID: 21968786
Will MJ, Hecker RB, Wathen PI
South Med J 1996 Sep;89(9):915-20. doi: 10.1097/00007611-199609000-00015. PMID: 8790319
Parks JM, Reed G, Knochel JP
Am J Med Sci 1989 May;297(5):334-6. doi: 10.1097/00000441-198905000-00013. PMID: 2719058

Prognosis

Thomas-Wilson A, Dharmadhikari AV, Heymann JJ, Jobanputra V, DiMauro S, Hirano M, Naini AB, Ganapathi M
Cold Spring Harb Mol Case Stud 2022 Feb;8(2) Epub 2022 Mar 24 doi: 10.1101/mcs.a006173. PMID: 35022222Free 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
Dimitri D, Andre C, Roucoules J, Hosseini H, Humbel RL, Authier FJ
Muscle Nerve 2007 Mar;35(3):389-95. doi: 10.1002/mus.20693. PMID: 17143889
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
Porter CB, Hinthorn DR, Couchonnal G, Watanabe I, Caveny EA, Goldman B, Lash R, Holmes F, Liu C
JAMA 1981 Apr 17;245(15):1545-7. PMID: 6259382

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