@article{9cf65036da7d41c7840f9a4d8491bf6d,
title = "Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review): Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation",
abstract = "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, 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 RECOMMENDATIONS:: 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 should be conducted 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 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). GLOSSARY: AAN = American Academy of Neurology; AANEM = American Academy of Neuromuscular and Electrodiagnostic Medicine; AAPM&R = American Academy of Physical Medicine and Rehabilitation; CMT = Charcot-Marie-Tooth; DSP = distal symmetric polyneuropathy; EDX = electrodiagnostic; GTT = glucose tolerance testing; IFE = immunofixation electrophoresis; QSS = Quality Standards Subcommittee; SPEP = serum protein electrophoresis.",
author = "England, {J. D.} and Gronseth, {G. S.} and G. Franklin and Carter, {G. T.} and Kinsella, {L. J.} and Cohen, {J. A.} and Asbury, {A. K.} and K. Szigeti and Lupski, {J. R.} and N. Latov and Lewis, {R. A.} and Low, {P. A.} and Fisher, {M. A.} and Herrmann, {D. N.} and Howard, {J. F.} and G. Lauria and Miller, {R. G.} and M. Polydefkis and Sumner, {A. J.}",
note = "Funding Information: J.D.E. holds financial interests in Pfizer and has received research support from Wyeth and Pfizer. G.S.G. has received speaker honoraria from Pfizer, GlaxoSmithKline, and Boehringer Ingelheim and served on the IDMC Committee of Ortho-McNeil. He estimates that <2% of his clinical effort is spent on EMG and EEG. G.F., A.K.A., and K.S. have nothing to disclose. G.T.C estimates that 30% of his clinical effort is spent on EMG. J.A.C. has received speaker honoraria from Athena Diagnostics and estimates that 40% of his clinical effort is spent on EMG/NCS, 10% on autonomic testing, and 10% on botulinum toxin injections. L.J.K. has received speaker honoraria from American Medical Seminars, Cross Country Education, Therapath Laboratories and CME, LLC, and holds equity in Passnet Air Ambulance. He estimates 25% of his clinical effort is spent on NCS/EMG, 4% on skin biopsy for nerve fiber counting, and 8% on autonomic studies, and has received payment for expert testimony in legal proceedings. J.R.L. 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.L. serves as a consultant for Talecris Biopharmaceuticals and Quest Diagnostics, receives royalties from Athena Diagnostics, and holds equity and is a partner in Therapath LLC. He is the Medical and Scientific Director for the Neuropathy Association, estimates that <1% of his clinical effort is spent on skin biopsy, and has received research support from Talecris Biotherapeutics. R.A.L. has consulted for Talecris and has received research funding from MDA, Baxter Pharmaceuticals, and CMTA. He estimates that 33% of his clinical effort is spent on electromyography. He has received payment for expert testimony regarding the use of IVIg in CIDP and neuropathic pain after breast reduction. P.A.L. estimates 25% of his clinical effort is spent on autonomic reflex screening. D.H. has received research funding from NIH, Astellas Pharmaceutical Company, and MDA/CMT Association. He estimates that 25% of his clinical effort is spent on EMG and 20% on skin biopsies. J.F.H. holds financial interests in FEMI, Johnson & Johnson, Pfizer, and General Electric. He estimates that 40% of his clinical effort is spent on EMG/NCS. G.L. holds financial interests in GlaxoSmithKline and Formenti-Grunenthal. In addition, he has received research funding from Pfizer, Formenti-Grunenthal, Italian Ministry of Health, and Regione Lombardia. He estimates that 25% of his clinical effort is spent in an outpatient pain center, 25% on out- and inpatient clinical examination, 25% on skin biopsy examination, and 25% on research. R.G.M. holds financial interests in Celgene, Knopp Neurosciences, Medivation, Teva Neuro, Taiji Biomedicals, and Translational Genomics. M.P. serves on the scientific advisory board of GSK, the editorial board of Journal of the Peripheral Nervous System, the speakers{\textquoteright} bureau of Pfizer and participated in the Joslin diabetes CME programs. He has received research funding from Astellas Pharma and Mitsubishi Pharma and reads clinical skin biopsies, runs an EMG lab, and cares for patients with peripheral nerve diseases. A.J.S. has received payment for expert testimony in the possible neurotoxic injury of the peripheral nerve. ",
year = "2009",
month = jan,
day = "13",
doi = "10.1212/01.wnl.0000336370.51010.a1",
language = "English (US)",
volume = "72",
pages = "185--192",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "2",
}