Amyotrophic lateral sclerosis laboratory findings: Difference between revisions

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__NOTOC__
{{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]]. Other clinical laboratory tests that may be abnormal in otherwise typical case of ALS include: [[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).
==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==
{{Reflist|2}}
{{WH}}
{{WS}}
[[Category: (name of the system)]]

Revision as of 18:10, 15 October 2018