U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Rhabdomyolysis, susceptibility to, 1(RHABDO1)

MedGen UID:
1824080
Concept ID:
C5774307
Finding
Synonym: RHABDO1
 
Gene (location): OBSCN (1q42.13)
 
Monarch Initiative: MONDO:0859371
OMIM®: 620235

Definition

Susceptibility to rhabdomyolysis-1 (RHABDO1) is an autosomal recessive disorder characterized by recurrent episodes of rhabdomyolysis beginning in the teenage years. Some of the episodes may be triggered by exercise or heat; others occur spontaneously. Severe cases may result in acute renal failure or compartment syndrome. Affected individuals tend to have myalgia or muscle weakness in childhood and between episodes. Laboratory studies show increased serum creatine kinase and nonspecific myopathic features on skeletal muscle biopsy (Cabrera-Serrano et al., 2022). [from OMIM]

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Exercise intolerance
MedGen UID:
603270
Concept ID:
C0424551
Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Rhabdomyolysis
MedGen UID:
19775
Concept ID:
C0035410
Pathologic Function
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Centrally nucleated skeletal muscle fibers
MedGen UID:
330782
Concept ID:
C1842170
Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Increased variability in muscle fiber diameter
MedGen UID:
336019
Concept ID:
C1843700
Finding
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
Type 2 muscle fiber predominance
MedGen UID:
478817
Concept ID:
C3277187
Finding
An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Abnormal circulating acylcarnitine concentration
MedGen UID:
1684872
Concept ID:
C5139063
Finding
Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.

Professional guidelines

PubMed

Gupta N, Nusbaum J
Emerg Med Pract 2020 Dec 1;22(Suppl 12):1-2. PMID: 33259708
Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A
Acta Neurol Scand 2018 May;137(5):452-461. Epub 2017 Dec 29 doi: 10.1111/ane.12885. PMID: 29635721
Vrablik M, Zlatohlavek L, Stulc T, Adamkova V, Prusikova M, Schwarzova L, Hubacek JA, Ceska R
Physiol Res 2014;63(Suppl 3):S327-34. doi: 10.33549/physiolres.932865. PMID: 25428737

Recent clinical studies

Etiology

Tournadre A
Joint Bone Spine 2020 Jan;87(1):37-42. Epub 2019 Feb 6 doi: 10.1016/j.jbspin.2019.01.018. PMID: 30735805
Kalil AC, Thomas PG
Crit Care 2019 Jul 19;23(1):258. doi: 10.1186/s13054-019-2539-x. PMID: 31324202Free PMC Article
Apostolopoulou M, Corsini A, Roden M
Eur J Clin Invest 2015 Jul;45(7):745-54. Epub 2015 Jun 15 doi: 10.1111/eci.12461. PMID: 25991405
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Schachter M
Fundam Clin Pharmacol 2005 Feb;19(1):117-25. doi: 10.1111/j.1472-8206.2004.00299.x. PMID: 15660968

Diagnosis

Kalil AC, Thomas PG
Crit Care 2019 Jul 19;23(1):258. doi: 10.1186/s13054-019-2539-x. PMID: 31324202Free PMC Article
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K
Orphanet J Rare Dis 2015 Aug 4;10:93. doi: 10.1186/s13023-015-0310-1. PMID: 26238698Free PMC Article
Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R
Orphanet J Rare Dis 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. PMID: 25929793Free PMC Article
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Litman RS, Rosenberg H
JAMA 2005 Jun 15;293(23):2918-24. doi: 10.1001/jama.293.23.2918. PMID: 15956637

Therapy

Tournadre A
Joint Bone Spine 2020 Jan;87(1):37-42. Epub 2019 Feb 6 doi: 10.1016/j.jbspin.2019.01.018. PMID: 30735805
Kalil AC, Thomas PG
Crit Care 2019 Jul 19;23(1):258. doi: 10.1186/s13054-019-2539-x. PMID: 31324202Free PMC Article
Apostolopoulou M, Corsini A, Roden M
Eur J Clin Invest 2015 Jul;45(7):745-54. Epub 2015 Jun 15 doi: 10.1111/eci.12461. PMID: 25991405
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Schachter M
Fundam Clin Pharmacol 2005 Feb;19(1):117-25. doi: 10.1111/j.1472-8206.2004.00299.x. PMID: 15660968

Prognosis

Hoppe K, Jurkat-Rott K, Kranepuhl S, Wearing S, Heiderich S, Merlak S, Klingler W
Sci Rep 2021 Feb 9;11(1):3445. doi: 10.1038/s41598-021-82024-7. PMID: 33564012Free PMC Article
Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A
Acta Neurol Scand 2018 May;137(5):452-461. Epub 2017 Dec 29 doi: 10.1111/ane.12885. PMID: 29635721
Deng L, Jia R, Li W, Xue Q, Liu J, Miao Y, Wang J
Medicine (Baltimore) 2017 Dec;96(51):e9458. doi: 10.1097/MD.0000000000009458. PMID: 29390582Free PMC Article
Protasi F, Paolini C, Canato M, Reggiani C, Quarta M
J Muscle Res Cell Motil 2011 Dec;32(4-5):257-70. Epub 2011 Dec 1 doi: 10.1007/s10974-011-9277-2. PMID: 22130610
Bottorff M
Atherosclerosis 1999 Sep 9;147 Suppl 1:S23-30. doi: 10.1016/s0021-9150(99)00252-x. PMID: 10575059

Clinical prediction guides

Hoppe K, Jurkat-Rott K, Kranepuhl S, Wearing S, Heiderich S, Merlak S, Klingler W
Sci Rep 2021 Feb 9;11(1):3445. doi: 10.1038/s41598-021-82024-7. PMID: 33564012Free PMC Article
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT
Skelet Muscle 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. PMID: 33190635Free PMC Article
Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A
Acta Neurol Scand 2018 May;137(5):452-461. Epub 2017 Dec 29 doi: 10.1111/ane.12885. PMID: 29635721
Vrablik M, Zlatohlavek L, Stulc T, Adamkova V, Prusikova M, Schwarzova L, Hubacek JA, Ceska R
Physiol Res 2014;63(Suppl 3):S327-34. doi: 10.33549/physiolres.932865. PMID: 25428737
Bottorff M
Atherosclerosis 1999 Sep 9;147 Suppl 1:S23-30. doi: 10.1016/s0021-9150(99)00252-x. PMID: 10575059

Recent systematic reviews

Ghatak A, Faheem O, Thompson PD
Atherosclerosis 2010 Jun;210(2):337-43. Epub 2009 Nov 27 doi: 10.1016/j.atherosclerosis.2009.11.033. PMID: 20042189

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...