Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role ofLaboratory and Genetic Testing (An Evidence-Based Review) Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation

England, J.D.; Gronseth, G.S.; Franklin, G.; Carter, G.T.; Kinsella, L.J.; Cohen, J.A.; Asbury, A.K.; Szigeti, K.; Lupski, J.R.; Latov, N.; Lewis, R.A.; Low, P.A.; Fisher, M.A.; Herrmann, D.N.; Howard, J.F.; Lauria, G.; Miller, R.G.; Polydefkis, M.; Sumner, A.J.

doi:10.1016/j.pmrj.2008.11.010

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Volume 1, Issue 1 , Pages 5-13, January 2009

Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role ofLaboratory and Genetic Testing (An Evidence-Based Review)

Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation

J.D. England, MD
- Louisiana State University Health Sciences Center, New Orleans; holds financial interests in Pfizer
G.S. Gronseth, MD
- University of Kansas, Kansas City; holds financial interests in Pfizer and GlaxoSmithKline and Boeheringer Ingelheim for speaker honoraria and Ortho-McNeil for serving on the IDMC Committee
G. Franklin, MD
- University of Washington, Seattle; has nothing to disclose
G.T. Carter, MD
- Providence Health System, Southwest Washington; has nothing to disclose
L.J. Kinsella, MD
- St. Louis University School of Medicine, St. Louis, MO; has received royalties from the American Medical Resources, Enduring Medical Materials (CD/DVD), has received honorarium from Medical Education Resources, CME LLC, Expert Witness testimony and record review, Peters Marketing Research, Delve Marketing Research, Cross Country Education and American Medical Seminars. Dr. Kinsella holds corporate appointments with Cross Country Education and Forest Park Hospital
J.A. Cohen, MD
- Dartmouth Hitchcock Medical Center, Lebanon, NH; has nothing to disclose
A.K. Asbury, MD
- University of Pennsylvania School of Medicine, Philadelphia; receives residual royalties from Elsevier for editorial work done prior to 2005. He receives honoraria from Dana Foundation, NY and the International Society for Neuroimmunology. His wife is a consultant for the Dana Foundation
K. Szigeti, MD, PhD
- Baylor College of Medicine, Houston, TX; has nothing to disclose
J.R. Lupski, MD, PhD
- Baylor College of Medicine, Houston, TX; holds financial interests in Athena Diagnostics and has received research funding from NIH/NEI, NIH/NIDCR, Charcot-Marie-Tooth Association and the March of Dimes
N. Latov, MD
- Weill Medical College of Cornell, New York, NY; serves on as a Scientific Advisor for Quest Diagnostics and is a member of a Steering Committee, Talecris Biotherapeutics. Dr. Latov receives royalties from Demos publications and has received research support from the NIH and Talecris Biotherapeutics. He holds stock options in Therapath LLC and is the beneficiary of license fee payments from Athena Diagnostics to Columbia University. He has given expert testimony in legal proceedings related to neuropathy and has prepared an affidavit with regarding to the legal proceeding related to neuropathy
R.A. Lewis, MD
- Wayne State University School of Medicine, Detroit, MI; holds financial interests in Talecris and has received research funding from MDA and CMTA. He estimates that approximately 33% of his clinical effort is spent on electromyography. He has received payment for expert testimony regarding the use of IVIg in CIDP; neuropathic pain after breast reduction
P.A. Low, MD
- Mayo Clinic, Rochester, MN; has served as a consultant for WR Medical, Viatris, Eli Lilly and Company, Chelsea Therapeutics and Quigley Corporation
M.A. Fisher, MD
- Loyola University Chicago Stritch School of Medicine and the Hines VAH, IL; has nothing to disclose
D.N. Herrmann
- University of Rochester Medical Center, NY; estimates that approximately 15-20% of his clinical effort is spent on skin biopsies
J.F. Howard, MD
- University of North Carolina, Chapel Hill; serves on a myasthenia gravis medical scientific board, has served as an Associate Editor, Journal of Clinical Neuromuscular Disease (1998-2006), receives honoraria from Duke University Medical Center, and Medical Educational Resources. He is the director of MEG laboratories and estimates that 75% of his time is spent there. He also holds stock options in GE, Pfizer and Johnson & Johnson. In addition, he has provided an affidavit on two cases regarding myasthenia gravis
G. Lauria
- Fondazione IRCCS National Neurological Institute “Carlo Besta”, Milan, Italy; holds financial interests in GlaxoSmithKline, Formenti-Grunenthal, Mitsubishi Pharma, and Agave. In addition he has received research funding from Pfitzer, Formenti-Grunenthal, Agave, Italian Ministry of Health and Regione Lombardia
R.G. Miller, MD
- California Pacific Medical Center, San Francisco; holds financial interests in Celgene and Pathologica
M. Polydefkis
- John Hopkins Medical Institutions, Baltimore, MD; holds financial interests in DSMB, Pfizer, Johnson & Johnson, Mitsubishi Pharma, Merck, Xenoport and GSK. He has received research funding from JDRF, NIH, Astellas Pharma, Mitsubishi Pharma and Sanofi-Aventis. He estimates that 10% of his clinical effort is devoted to EMG, 5% to skin biopsy and <1% on lumbar puncture
A.J. Sumner, MD
- Louisiana State University Health Sciences Center, New Orleans; has received payment for expert testimony in the possible neurotoxic injury of the peripheral nerve
- Send correspondence to: American Academy of Physical Medicine and Rehabilitation

Background

Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP.

Methods

A literature review using MEDLINE, EMBASE, Science Citation Index and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007. Articles were classified according to a four-tiered level of evidence scheme and recommendations were based upon the level of evidence.

Results and Conclusions

1. Screening laboratory tests may be considered for all patients with polyneuropathy (Level C). Those tests that provide the highest yield of abnormality are blood glucose, serum B12 with metabolites (methylmalonic acid with or without homocysteine) and serum protein immunofixation electrophoresis (Level C). If there is no definite evidence of diabetes mellitus by routine testing of blood glucose, testing for impaired glucose tolerance may be considered in distal symmetric sensory polyneuropathy (Level C). 2. Genetic testing is established as useful for the accurate diagnosis and classification of hereditary neuropathies (Level A). Genetic testing may be considered in patients with cryptogenic polyneuropathy who exhibit a hereditary neuropathy phenotype (Level C). Initial genetic testing should be guided by the clinical phenotype, inheritance pattern, and electrodiagnostic (EDX) features and should focus on the most common abnormalities which are CMT1A duplication/HNPP deletion, Cx32 (GJB1), and MFN2 mutation screening. There is insufficient evidence to determine the usefulness of routine genetic testing in patients with cryptogenic polyneuropathy who do not exhibit a hereditary neuropathy phenotype (Level U).

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Published simultaneously in Neurology and Muscle & Nerve. Approved by the AAPM&R Board of Governors April 7, 2008; by the AANEM Board of Directors May 1, 2008; and the AAN Board of Governors August 20, 2008.

Author affiliations and disclosures are provided at the end of the article. Supplemental data available at www.pmrjournal.org

With regards to conflicts of interest, the authors disclose the following:

PII: S1934-1482(08)00038-5

doi:10.1016/j.pmrj.2008.11.010

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Volume 1, Issue 1 , Pages 5-13, January 2009

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