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, 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. N. Herrmann, J. F. Howard, G. Lauria, R. G. Miller, M. Polydefkis, A. J. Sumner

Research output: Contribution to journalArticle

32 Citations (Scopus)

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, 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).

Original languageEnglish (US)
Pages (from-to)5-13
Number of pages9
JournalPM and R
Volume1
Issue number1
DOIs
StatePublished - Jan 2009

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

ASJC Scopus subject areas

  • Rehabilitation
  • Neurology
  • Clinical Neurology
  • Physical Therapy, Sports Therapy and Rehabilitation

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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, Phillip Anson; Fisher, M. A.; Herrmann, D. N.; Howard, J. F.; Lauria, G.; Miller, R. G.; Polydefkis, M.; Sumner, A. J.

In: PM and R, Vol. 1, No. 1, 01.2009, p. 5-13.

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, DN, Howard, JF, Lauria, G, Miller, RG, Polydefkis, M & Sumner, AJ 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', PM and R, vol. 1, no. 1, pp. 5-13. https://doi.org/10.1016/j.pmrj.2008.11.010
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. N. ; Howard, J. F. ; Lauria, G. ; Miller, R. G. ; Polydefkis, M. ; Sumner, A. J. / 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. In: PM and R. 2009 ; Vol. 1, No. 1. pp. 5-13.
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