Epidemiology

• xxx

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Etiology

• Autosomal dominant

Precipitating Factors for Attacks

• Infection:
• Surgery:
• Drugs
  • Phenobarbital
  • Sulfonamides
  • Chlordiazepoxide
  • Griseofulvin
  • Phenytoin
  • Sulfonylureas
• Low Calorie Diet/Dieting:
• Endogenous/Exogenous Gonadal Steroids:

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Physiology

• Neuropathy -> chronic hypoventilation

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Pathology

• xxx

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Diagnosis

• PFT’s:
• Transdiaphragmatic pressure: using NG balloon (Pga-Pes)/ normal change >25 cm H2O (referenced to TLC), usually 2-20 cm H2O in bilateral paralysis
• CXR/Chest CT patterns:
  • Normal CXR: usually

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Clinical

Pulmonary Manifestations

• [[Chronic Hypoventilation]]: due to bulbar manifestations

Cardiac Manifestations

• Persistent Tachycardia:

GI Manifestations

• Abdominal pain:
• Vomiting:

Neuro Manifestations

• Psychiatric:
• Peripheral (motor> sensory) neuropathy
  • Affects UE first
  • Markedly decreased DTR’s
• Seizures (see [[Seizures]])

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Treatment

• Avoidance of offending drugs: see Pathogenesis
• Carbohydrate loading (>200 g carbo with >100 g protein): to inhibit DLAS enzyme
• Supportive: mechanical ventilation (if needed)
• IV Hemin (for severe cases): inhibits DLAS

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References

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