Amyotrophic lateral sclerosis laboratory findings: Difference between revisions
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{{Amyotrophic lateral sclerosis}} | {{Amyotrophic lateral sclerosis}} | ||
{{CMG}}; {{AE}} {{MMJ}} | |||
==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 screening 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]]. | |||
==Laboratory Findings== | |||
*Typical labs drawn in patients with ALS are:<ref name="pmid26629397">{{cite journal| author=Zarei S, Carr K, Reiley L, Diaz K, Guerra O, Altamirano PF et al.| title=A comprehensive review of amyotrophic lateral sclerosis. | journal=Surg Neurol Int | year= 2015 | volume= 6 | issue= | pages= 171 | pmid=26629397 | doi=10.4103/2152-7806.169561 | pmc=4653353 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26629397 }} </ref><ref name="pmid21989247">{{cite journal| author=Hardiman O, van den Berg LH, Kiernan MC| title=Clinical diagnosis and management of amyotrophic lateral sclerosis. | journal=Nat Rev Neurol | year= 2011 | volume= 7 | issue= 11 | pages= 639-49 | pmid=21989247 | doi=10.1038/nrneurol.2011.153 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21989247 }} </ref> | |||
**[[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.<ref name="pmid26629397">{{cite journal| author=Zarei S, Carr K, Reiley L, Diaz K, Guerra O, Altamirano PF et al.| title=A comprehensive review of amyotrophic lateral sclerosis. | journal=Surg Neurol Int | year= 2015 | volume= 6 | issue= | pages= 171 | pmid=26629397 | doi=10.4103/2152-7806.169561 | pmc=4653353 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26629397 }} </ref><ref name="pmid21989247">{{cite journal| author=Hardiman O, van den Berg LH, Kiernan MC| title=Clinical diagnosis and management of amyotrophic lateral sclerosis. | journal=Nat Rev Neurol | year= 2011 | volume= 7 | issue= 11 | pages= 639-49 | pmid=21989247 | doi=10.1038/nrneurol.2011.153 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21989247 }} </ref> | |||
*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]].<ref name="pmid26629397">{{cite journal| author=Zarei S, Carr K, Reiley L, Diaz K, Guerra O, Altamirano PF et al.| title=A comprehensive review of amyotrophic lateral sclerosis. | journal=Surg Neurol Int | year= 2015 | volume= 6 | issue= | pages= 171 | pmid=26629397 | doi=10.4103/2152-7806.169561 | pmc=4653353 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26629397 }} </ref><ref name="pmid21989247">{{cite journal| author=Hardiman O, van den Berg LH, Kiernan MC| title=Clinical diagnosis and management of amyotrophic lateral sclerosis. | journal=Nat Rev Neurol | year= 2011 | volume= 7 | issue= 11 | pages= 639-49 | pmid=21989247 | doi=10.1038/nrneurol.2011.153 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21989247 }} </ref> | |||
*Other clinical laboratory tests that may be abnormal in otherwise typical case of ALS include:<ref name="pmid19192301">{{cite journal| author=Wijesekera LC, Leigh PN| title=Amyotrophic lateral sclerosis. | journal=Orphanet J Rare Dis | year= 2009 | volume= 4 | issue= | pages= 3 | pmid=19192301 | doi=10.1186/1750-1172-4-3 | pmc=2656493 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19192301 }} </ref><ref name="pmid11464847">{{cite journal| author=Brooks BR, Miller RG, Swash M, Munsat TL, World Federation of Neurology Research Group on Motor Neuron Diseases| title=El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. | journal=Amyotroph Lateral Scler Other Motor Neuron Disord | year= 2000 | volume= 1 | issue= 5 | pages= 293-9 | pmid=11464847 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11464847 }} </ref> | |||
**[[Muscle enzyme]]s (serum [[creatine kinase]] [unusual above ten times upper limit of normal], [[ALT]], [[AST]], [[LDH]]) | |||
**Serum [[creatinin]]e (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== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WH}} | |||
{{WS}} | |||
[[Category: (name of the system)]] | |||
[[Category: |
Revision as of 15:44, 3 October 2018
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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 screening 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.
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.