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

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

## Laboratory Findings

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* 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)

## References

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1. ↑ 1.0 1.1 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
2. ↑ 2.0 2.1 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.CS1 maint: Multiple names: authors list (link)
3. ↑ 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.
4. ↑ 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.CS1 maint: Multiple names: authors list (link)

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