Amyotrophic Lateral Sclerosis: Test and Diagnosis

1st order laboratory parameters – obligatory laboratory tests.

  • Small blood count
  • Differential blood count
  • Creatine kinase (CK, CK-MB) – may be elevated.
  • Electrolytescalcium, magnesium, sodium, potassium, phosphates, chloride.
  • Inflammatory parameters – CRP (C-reactive protein) or ESR (erythrocyte sedimentation rate).
  • Liver parameters – alanine aminotransferase (GPT), aspartate aminotransferase (GOT).
  • Fasting glucose (fasting blood glucose), if necessary oral glucose tolerance test (oGTT).
  • Thyroid parameters – TSH, fT3, fT4
  • Serum protein and immunoelectrophoresis.
  • Vitamin B12 (methylmalonic acid, homocysteine)
  • Neurofilament light chain proteins (NFL; neurofilament light chain) in serum [exceeding a diagnostic threshold → ALS is considered likely].

Laboratory parameters 2nd order – depending on the results of the history, physical examination and the obligatory laboratory parameters – for differential diagnostic clarification.

  • ANA (antinuclear antibodies), anti-DNA, anti-Hu, anti-MAG, anti-AchR, anti-MU.
  • Angiotensin converting enzyme (ACE).
  • Hexosaminidase A and B
  • CSF puncture (collection of cerebrospinal fluid by puncture of the spinal canal) for CSF diagnosis – for differential diagnosis.
  • Muscle and nerve biopsy – especially in case of atypical manifestation (atypical occurrence) to delineate metabolic, immunologic, and neoplastic causes (neoplasia, i.e., neoplasms)
    • Muscle biopsy reveals neurogenic degeneration of II-A fibers and compensatory hypertrophy (enlargement of a tissue) of muscle fibers. The hypertrophy maintains the power output until approximately 50% of the muscle fibers are affected by atrophy. Consequently, muscle strength in ALS patients does not decline until the advanced stage.
  • Serology (e.g., borrelia, syphilis (lues), HIV), antibodies against K+ channels.
  • If necessary, blood gas analysis (BGA)