Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)

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

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

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. 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 on the level of evidence. (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).

Original languageEnglish (US)
Pages (from-to)116-125
Number of pages10
JournalMuscle and Nerve
Volume39
Issue number1
DOIs
StatePublished - Jan 2009

Fingerprint

Polyneuropathies
Genetic Testing
Phenotype
Blood Glucose
Methylmalonic Acid
Inheritance Patterns
Glucose Intolerance
Homocysteine
MEDLINE
Electrophoresis
Blood Proteins
Diabetes Mellitus
Guidelines
Mutation
Serum

Keywords

  • Distal symmetric polyneuropathy
  • Evaluation
  • Prospective studies

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

Cite this

England, J. D., Gronseth, G. S., Franklin, G., Carter, G. T., Kinsella, L. J., Cohen, J. A., ... Sumner, A. J. (2009). Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review). Muscle and Nerve, 39(1), 116-125. https://doi.org/10.1002/mus.21226

Evaluation of distal symmetric polyneuropathy : The role of laboratory and genetic testing (an evidence-based review). / 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, Phillip Anson; Fisher, M. A.; Herrmann, D.; Howard, J. F.; Lauria, G.; Miller, R. G.; Polydefkis, M.; Sumner, A. J.

In: Muscle and Nerve, Vol. 39, No. 1, 01.2009, p. 116-125.

Research output: Contribution to journalArticle

England, JD, Gronseth, GS, Franklin, G, Carter, GT, Kinsella, LJ, Cohen, JA, Asbury, AK, Szigeti, K, Lupski, JR, Latov, N, Lewis, RA, Low, PA, Fisher, MA, Herrmann, D, Howard, JF, Lauria, G, Miller, RG, Polydefkis, M & Sumner, AJ 2009, 'Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)', Muscle and Nerve, vol. 39, no. 1, pp. 116-125. https://doi.org/10.1002/mus.21226
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, Phillip Anson ; Fisher, M. A. ; Herrmann, D. ; Howard, J. F. ; Lauria, G. ; Miller, R. G. ; Polydefkis, M. ; Sumner, A. J. / Evaluation of distal symmetric polyneuropathy : The role of laboratory and genetic testing (an evidence-based review). In: Muscle and Nerve. 2009 ; Vol. 39, No. 1. pp. 116-125.
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