Amyotrophic lateral sclerosis laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]
Overview
Typical labs drawn in patients with ALS are: Erythrocyte sedimentation rate, serum and urine protein electrophoresis, thyroid function tests, serum calcium and phosphate measurements, and CSF analysis. Heavy metal sreening is indicated in patients with a potential history of exposure. B-hexaminidase subunits alpha and beta activity should be tested in Ashkenazi Jews because deficiency in this enzyme mimics ALS, but in reality is the rare autosomal recessive genetic disorder, Tay-Sachs. Other clinical laboratory tests that may be abnormal in otherwise typical case of ALS include: 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).
Laboratory Findings
- Typical labs drawn in patients with ALS are:[1][2]
- Erythrocyte sedimentation rate
- Serum and urine protein electrophoresis
- Thyroid function tests
- Serum calcium and phosphate measurements
- 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)
References
- ↑ 1.0 1.1 1.2 Zarei S, Carr K, Reiley L, Diaz K, Guerra O, Altamirano PF; et al. (2015). "A comprehensive review of amyotrophic lateral sclerosis". Surg Neurol Int. 6: 171. doi:10.4103/2152-7806.169561. PMC 4653353. PMID 26629397.
- ↑ 2.0 2.1 2.2 Hardiman O, van den Berg LH, Kiernan MC (2011). "Clinical diagnosis and management of amyotrophic lateral sclerosis". Nat Rev Neurol. 7 (11): 639–49. doi:10.1038/nrneurol.2011.153. PMID 21989247.
- ↑ Wijesekera LC, Leigh PN (2009). "Amyotrophic lateral sclerosis". Orphanet J Rare Dis. 4: 3. doi:10.1186/1750-1172-4-3. PMC 2656493. PMID 19192301.
- ↑ Brooks BR, Miller RG, Swash M, Munsat TL, World Federation of Neurology Research Group on Motor Neuron Diseases (2000). "El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis". Amyotroph Lateral Scler Other Motor Neuron Disord. 1 (5): 293–9. PMID 11464847.