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MYOGLOBINURIA - RHABDOMYOLYSIS

Myoglobinuria
  Malignant hyperthermia
  General features
  Pathophysiology
  Specific causes

Myoglobinuria: Acquired causes
  Muscle activity
    Overactivity
    Exercise
  Drugs
  Idiopathic recurrent
  Infections
  Ischemia (Hypoxia)
    Compartment syndromes
  Mitochondrial
  Neuroleptic malignant syndrome
  Other: Occasional myoglobinuria
  Polymyositis: Anti-MAS syndrome
  Serotonin syndrome
  Snake venoms
  Systemic
    Hypokalemia
    Thyroid: Hyper or Hypo
  Toxins
  Trauma
Myoglobinuria: Familial causes
  Acyl-CoA Dehydrogenase (VLCAD)
  Carnitine Palmitoyltransferase II (CPT2)
  Central core
  Childhood Recurrent: LPIN1; 2p25
  Glycogen metabolism disorders
  Hypokalemic periodic paralysis
  King-Denborough syndrome
  Malignant hyperthermia (MHS) loci
    MHS1: Ryanodine Receptor; 19q13
    MHS2: Na+ channel (SCNA4); 17q11
    MHS3: Ca++ channel (CACNL2A); 7q21
    MHS4: 3q13
    MHS5: Ca++ channel (CACNA1S); 1q32
    MHS6: 5p
    CPT2: 1p32
  Marinesco-Sjögren
  Mitochondrial
  Muscular dystrophies
  Myoadenylate deaminase deficiency
  Native American Myopathy: Stac3; 12q13
  Other familial
  Sickle cell anemia


MYOGLOBINURIA: General features 12



MYOGLOBINURIA: Specific causes

Malignant Hyperthermia


Glycogen metabolic disorders Fatty acid oxidation & Lipid metabolism Myoglobinuria: Mitochondrial disorders Familial: Other disorders with occasional myoglobinuria Drugs & Toxins Systemic
Hypokalemic myopathy & Rhabdomyolysis Muscle Trauma Ischemia (Hypoxia) Infections Immune myopathy

Muscle: Exercise related genetics & pathology 31





Malignant Hyperthermia Syndromes (MHS) 1

General features
Pathophysiology

Hypokalemic periodic paralysis
MHS loci
  MHS1: Ryanodine Receptor; 19q13
  MHS2: Na+ channel (SCNA4); 17q11
  MHS3: Ca++ channel (CACNL2A); 7q21
  MHS4: 3q13
  MHS5: Ca++ channel (CACNA1S); 1q32
  MHS6: 5p
  CPT2: 1p32
King-Denborough: RYR1; 19q13
Native American Myopathy: Stac3; 12q13
Occasional MH




King-Denborough Syndrome

  Ryanodine Receptor ; Chromosome 19q13.1; Dominant
  ? Other; Autosomal Dominant, or Sporadic

From: A Connolly MD


Ethanol-Induced Myopathies


Monensin-Induced Rhabdomyolysis11


Coenzyme Q10 Deficiency 23



Familial Recurrent Rhabdomyolysis (Myoglobinuria) in Childhood 24

  Lipin-1 (LPIN1) ; Chromosome 2p25.1; Recessive

Native American Myopathy 25

  SH3 and cysteine-rich domain-containing protein 3 (Stac3) ; Chromosome 12q13.3; Recessive

Neuroleptic Malignant Syndrome (NMS)



Serotonin syndrome



Haff disease*



Mushroom intoxication



Pentaborane



e-Amino Caproic Acid (Amicar)



Lipid lowering agent myopathies4

Fibrates
General syndromes
Myotoxins
Statins


Cocaine 3



Propofol



Proton pump inhibitors (PPI)19



Exertional Heat Stroke


Idiopathic Recurrent Myoglobinuria


Compartment Syndromes

Definition & Features General associations Precipitating factors & Localization Laboratory Treatment
Compartment syndrome: Deltoid muscle (MRI)



BIOLOGIC TOXINS: SNAKE & OTHER

Acetylcholine receptor (AChR) binding
Myotoxic
Phospholipase A2 proteins

Myotoxic peptides Myotoxic phospholipase A2 proteins: 2 groups Acetylcholine receptor (AChR) binding compounds: Toxins & Venom polypeptides
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6/3/2014