Amyotrophic lateral sclerosis laboratory findings

There are no diagnostic laboratory findings associated with Amyotrophic lateral sclerosis, but workup is done to rule out other neurodegenerative diseases.

• Typical labs drawn in patients with ALS are:
  • Erythrocyte sedimentation rate
  • Complete blood count
  • Creatine kinase
  • Creatine
  • Serum and urine protein electrophoresis
  • Thyroid function tests
  • Complete metabolic panel
  • CSF analysis
• Heavy metal screening is indicated in patients with a potential history of exposure.^[1][2]
• In Ashkenazi Jews, B-hexaminidase subunits alpha and beta activity should be tested because deficiency in this enzyme mimics ALS, but in reality is the rare autosomal recessive genetic disorder, Tay-Sachs.^[1][2]

• Other clinical laboratory tests that may be abnormal in otherwise typical case of ALS include:^[3][4]
  • Muscle enzymes (serum creatine kinase [unusual above ten times upper limit of normal, ALT, AST, LDH)
  • Serum creatinine (related to loss of skeletal muscle mass)
  • Hypochloremia, increased bicarbonate (related to advanced respiratory compromise)
  • Elevated CSF protein (uncommonly more than 100 mg/dl)

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