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Table 1 Inherited neuromuscular disorders associated with episodes of rhabdomyolysis

From: Rhabdomyolysis: a genetic perspective

Gene Disease name Baseline CK levels Pattern of inheritance Trigger for rhabdomyolysis
Disorders of glycogen metabolism
PYGM Glycogen storage disease type V, McArdle disease High AR Aerobic and anaerobic exercise, symptom onset within minutes
PFKM Glycogen storage disease type VII, Tarui’s disease High AR Aerobic and anaerobic exercise, symptom onset within minutes
ALDOA Glycogen storage disease type XII Normal AR Febrile illness, infection
Mild elevation, High
ENO3 Glycogen storage disease type XIII Normal AR Aerobic and anaerobic exercise, symptom onset within minutes
High
PGAM2 Glycogen storage disease type X High AR Aerobic and anaerobic exercise, symptom onset within minutes
PGK1 Phosphoglycerate kinase 1 deficiency Normal X-linked Aerobic and anaerobic exercise, symptom onset within minutes
High
PGM1 Glycogen storage disease type XIV High AR Aerobic and anaerobic exercise, symptom onset within minutes, general anaesthesia
PHKA1 Glycogen storage disease type IX ? X-linked Aerobic and anaerobic exercise, symptom onset within minutes
PHKB AR
Disorders of fatty acid metabolism:
ACADVL Deficiency of very-long-chain acyl-CoA dehydrogenase Normal AR Fasting, prolonged exercise, cold, infections, fever
High
CPT2 Carnitine palmitoyl-transferase deficiency Normal AR Prolonged exercise, fasting, fever, infection, high fat intake, cold exposure, heat, emotional stress, drugs
ETFA Glutaric aciduria Type II Normal AR Physical exercise, fasting, irregular diet or infection
ETFB Multiple acyl-coenzyme A dehydrogenase deficiency Mildly to moderately elevated
ETFDH
Mitochondrial disorders
COI (MTCO1) Mitochondrial disorder Normal Maternal inheritance Prolonged or repetitive exercise
COII Mitochondrial disorder Normal Maternal inheritance Exercise
(MTCO2)
COIII (MTCO3) Mitochondrial disorder Normal Maternal inheritance Prolonged exercise, viral illness, unknown cause
DGUOK Mitochondrial disorder ? AR Viral illness
FDX1L Mitochondrial disorder Normal AR ? After exercise [114]
High
HADHA Mitochondrial Trifunctional Protein Deficiency Normal AR Strenuous physical activity
HADHB
ISCU Iron–sulphur cluster deficiency myopathy (Mitochondrial disorder) ? AR Exercise
MTCYB Mitochondrial disorder Normal ?Sporadic mutations [64] Exercise
POLG1 1 case report of rhabdomyolysis in association with PIS [73] AD, AR PIS
Disorders of intramuscular calcium release and excitation-contraction coupling
RYR1 Malignant hyperthermia-susceptibility, Exertional rhabdomyolysis, Congenital myopathy Normal or mildly to moderately elevated (usually <1000 IU/L) AD, AR Heat, infection, alcohol, drugs, anaesthetic (MHS) and exercise
Muscular dystrophies
ANO5 Anoctaminopathy-5 High AR Unprovoked – no trigger has been identified
DMD Duchenne muscular dystrophy, Becker muscular dystrophy High X-linked Exercise, anaesthetic drugs
DYSF LGMD2B, Miyoshi myopathy High AR Exercise
FKTN Fukuyama congenital muscular dystrophy High AR One case following the use of halothane and succinylcholine [89,90]
FKRP LGMD2I High AR Exercise [82]
Miscellaneous
LPIN1 Phosphatidic acid phosphatase deficiency Normal, High AR Febrile illness, anaesthesia and fasting.
SIL1 Marinesco-Sjogren syndrome Normal, High AR Febrile infection
TSEN54 Pontocerebellar hypoplasia type 2 Normal, High AR Hyperthermia
  1. The table above summarises genes, disease name, baseline serum CK levels (between acute episodes of rhabdomyolysis), pattern of inheritance and triggers for rhabdomyolysis. Genes commonly associated with rhabdomyolysis episodes are indicated in bold.
  2. CK: creatine kinase; AR: autosomal recessive; AD: autosomal dominant; MHS: malignant hyperthermia susceptibility; PIS: propofol infusion syndrome; LGMD: limb-girdle muscular dystrophy (2B and 2I).