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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Distal muscle weakness
MedGen UID:
140883
•Concept ID:
C0427065
•
Finding
Reduced strength of the musculature of the distal extremities.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Points & Pearls: Rhabdomyolysis: evidence-based management in the emergency department.
Gupta N, Nusbaum J
Emerg Med Pract 2020 Dec 1;22(Suppl 12):1-2. PMID: 33259708
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
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
Statin-associated myopathy: from genetic predisposition to clinical management.
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

Influenza virus-related critical illness: pathophysiology and epidemiology.
Kalil AC, Thomas PG
Crit Care 2019 Jul 19;23(1):258. doi: 10.1186/s13054-019-2539-x. PMID: 31324202Free PMC Article
Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.
Carr DF, Francis B, Jorgensen AL, Zhang E, Chinoy H, Heckbert SR, Bis JC, Brody JA, Floyd JS, Psaty BM, Molokhia M, Lapeyre-Mestre M, Conforti A, Alfirevic A, van Staa T, Pirmohamed M
Clin Pharmacol Ther 2019 Dec;106(6):1353-1361. Epub 2019 Jul 31 doi: 10.1002/cpt.1557. PMID: 31220337Free PMC Article
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S373-7. Epub 2010 Sep 3 doi: 10.1007/s10545-010-9190-7. PMID: 20814823
Malignant hyperthermia.
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
Chemical, pharmacokinetic and pharmacodynamic properties of statins: an update.
Schachter M
Fundam Clin Pharmacol 2005 Feb;19(1):117-25. doi: 10.1111/j.1472-8206.2004.00299.x. PMID: 15660968

Diagnosis

Points & Pearls: Rhabdomyolysis: evidence-based management in the emergency department.
Gupta N, Nusbaum J
Emerg Med Pract 2020 Dec 1;22(Suppl 12):1-2. PMID: 33259708
Influenza virus-related critical illness: pathophysiology and epidemiology.
Kalil AC, Thomas PG
Crit Care 2019 Jul 19;23(1):258. doi: 10.1186/s13054-019-2539-x. PMID: 31324202Free PMC Article
Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.
Carr DF, Francis B, Jorgensen AL, Zhang E, Chinoy H, Heckbert SR, Bis JC, Brody JA, Floyd JS, Psaty BM, Molokhia M, Lapeyre-Mestre M, Conforti A, Alfirevic A, van Staa T, Pirmohamed M
Clin Pharmacol Ther 2019 Dec;106(6):1353-1361. Epub 2019 Jul 31 doi: 10.1002/cpt.1557. PMID: 31220337Free PMC Article
Malignant hyperthermia: a review.
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
Malignant hyperthermia.
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

Therapy

Points & Pearls: Rhabdomyolysis: evidence-based management in the emergency department.
Gupta N, Nusbaum J
Emerg Med Pract 2020 Dec 1;22(Suppl 12):1-2. PMID: 33259708
Influenza virus-related critical illness: pathophysiology and epidemiology.
Kalil AC, Thomas PG
Crit Care 2019 Jul 19;23(1):258. doi: 10.1186/s13054-019-2539-x. PMID: 31324202Free PMC Article
Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.
Carr DF, Francis B, Jorgensen AL, Zhang E, Chinoy H, Heckbert SR, Bis JC, Brody JA, Floyd JS, Psaty BM, Molokhia M, Lapeyre-Mestre M, Conforti A, Alfirevic A, van Staa T, Pirmohamed M
Clin Pharmacol Ther 2019 Dec;106(6):1353-1361. Epub 2019 Jul 31 doi: 10.1002/cpt.1557. PMID: 31220337Free PMC Article
Malignant hyperthermia.
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
Chemical, pharmacokinetic and pharmacodynamic properties of statins: an update.
Schachter M
Fundam Clin Pharmacol 2005 Feb;19(1):117-25. doi: 10.1111/j.1472-8206.2004.00299.x. PMID: 15660968

Prognosis

Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
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
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
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
A Klebsiella pneumoniae liver abscess presenting with myasthenia and tea-colored urine: A case report and review of 77 cases of bacterial rhabdomyolysis.
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
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S373-7. Epub 2010 Sep 3 doi: 10.1007/s10545-010-9190-7. PMID: 20814823
'Fire and forget?' - pharmacological considerations in coronary care.
Bottorff M
Atherosclerosis 1999 Sep 9;147 Suppl 1:S23-30. doi: 10.1016/s0021-9150(99)00252-x. PMID: 10575059

Clinical prediction guides

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ, Voermans NC
J Neuromuscul Dis 2023;10(4):541-554. doi: 10.3233/JND-230018. PMID: 37154182Free PMC Article
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
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
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
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
Statin-associated myopathy: from genetic predisposition to clinical management.
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
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S373-7. Epub 2010 Sep 3 doi: 10.1007/s10545-010-9190-7. PMID: 20814823

Recent systematic reviews

The genetics of statin-induced myopathy.
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

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