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General Approach to Peripheral Nerve Disorders

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General Approach to Peripheral Nerve Disorders Review Article 04/25/2018 on mAXWo3ZnzwrcFjDdvMDuzVysskaX4mZb8eYMgWVSPGPJOZ9l+mqFwgfuplwVY+jMyQlPQmIFeWtrhxj7jpeO+505hdQh14PDzV4LwkY42MCrzQCKIlw0d1O4YvrWMUvvHuYO4RRbviuuWR5DqyTbTk/icsrdbT0HfRYk7+ZAGvALtKGnuDXDohHaxFFu/7KNo26hIfzU/+BCy16w7w1bDw== by https://journals.lww.com/continuum from Downloaded Downloaded Address correspondence to Dr James A. Russell, Lahey Hospital and Medical from General Approach to Center, Department of https://journals.lww.com/continuum Neurology, 41 Mall Rd, Peripheral Nerve Burlington, MA 01805, [email protected]. Relationship Disclosure: Disorders Dr Russell has served as a consultant for W2O Group, receives publishing royalties by mAXWo3ZnzwrcFjDdvMDuzVysskaX4mZb8eYMgWVSPGPJOZ9l+mqFwgfuplwVY+jMyQlPQmIFeWtrhxj7jpeO+505hdQh14PDzV4LwkY42MCrzQCKIlw0d1O4YvrWMUvvHuYO4RRbviuuWR5DqyTbTk/icsrdbT0HfRYk7+ZAGvALtKGnuDXDohHaxFFu/7KNo26hIfzU/+BCy16w7w1bDw== James A. Russell, DO, FAAN from McGraw-Hill Education, and has received personal compensation for medicolegal ABSTRACT record review. Unlabeled Use of Purpose of Review: This article provides a conceptual framework for the Products/Investigational evaluation of patients with suspected polyneuropathy to enhance the clinician’s Use Disclosure: ability to localize and confirm peripheral nervous system pathology and, when Dr Russell reports no disclosure. possible, identify an etiologic diagnosis through use of rational clinical and judicious * 2017 American Academy testing strategies. of Neurology. Recent Findings: Although these strategies are largely time-honored, recent insights pertaining to the pathophysiology of certain immune-mediated neuropa- thies and to evolving genetic testing strategies may modify the way that select causes of neuropathy are conceptualized, evaluated, and managed. Summary: The strategies suggested in this article are intended to facilitate accurate bedside diagnosis in patients with suspected polyneuropathy and allow efficient and judicious use of supplementary testing and application of rational treatment when indicated. Continuum (Minneap Minn) 2017;23(5):1241–1262. INTRODUCTION incidence and prevalence of neuropathy Peripheral neuropathy is a very com- in general, and chronic idiopathic axonal mon problem in neurology practice. neuropathy in particular, increase with Estimates of its incidence and preva- age.1,3 The prevalence of probable or lence are variable, undoubtedly based definite polyneuropathy in those who on the population studied, the defini- are older than 80 years of age was tion of neuropathy used, and the estimated to exceed 30% in one large intensity of the evaluation employed.1Y6 population study.3 In the Netherlands, neuropathy inci- Lack of consensus in diagnostic dence in an adult population approxi- criteria and variable terminology add mates 77 per 100,000 person-years.1 to uncertainty regarding the epide- Also in the Netherlands, the prevalence miology of peripheral neuropathy,8 of definite neuropathy is estimated at and variable opinions exist regarding 5.5%, and the prevalence of probable the role of electrodiagnosis in neu- and definite neuropathy combined is ropathy determination.6,9 However, it estimated at 13.1%, but these are likely is generally accepted that the minimal underestimated.3 Sensory loss in the standards for diagnosing neuropathy feet often goes unrecognized, particu- include at least two of the follow- larly in those with diabetes mellitus or ing features: distal symmetric sensory Supplemental digital content: Direct URL citations appear in on who are elderly; only 10% to 15% of symptoms, distal symmetric sen- 04/25/2018 the printed text and are included patients with diabetes mellitus reported sory loss, and diminished or absent in the HTML, PDF, and app 1,7 6 to be aware of their neuropathy. The ankle reflexes. The commonly used versions of this article. Continuum (Minneap Minn) 2017;23(5):1241–1262 ContinuumJournal.com 1241 Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited. Approach to Peripheral Nerve Disorders KEY POINTS h Peripheral neuropathy is designations of distal symmetric inflammatory demyelinating poly- a common neurologic polyneuropathy, chronic axonal poly- radiculoneuropathy [CIDP], the neu- problem, affecting neuropathy, or chronic idiopathic ropathy of monoclonal gammopathy 12 approximately 5% of axonal polyneuropathy, which have of undetermined significance). adults and as many as subtle conceptual differences, are gen- Patients should be informed that 30% of patients who erally used synonymously. good treatment options do not neces- are elderly. The etiologies of peripheral neu- sarily follow from a diagnosis, such as h Although they have ropathy are legion, exceeding 200 hereditary neuropathy, estimated to 2 minor conceptual depending on the classification system include as many as one-third of cases. differences, used.2,5,9 Identification and assign- However, informed diagnostic pursuit distal symmetric ment of an etiology are influenced by provides the opportunity for diag- polyneuropathy, chronic variables that include the population nostic closure, education regarding axonal polyneuropathy, studied, the nature and intensity of the disorder’s natural history, and and chronic idiopathic the evaluation, and the willingness to counseling germane to the preven- axonal polyneuropathy assign causation to a laboratory abnor- tion and management of potential may be considered Y mality that may be coincidental.1 3,7,10 future morbidity. In the case of distal as essentially synonymous terms. One study reporting a 58% prevalence sensory polyneuropathy, the patient of test abnormalities in patients with can be reassured that progression h Although the primary peripheral neuropathy considered only to nonambulation or amputation is goal in the evaluation 9% of these abnormalities to be diag- uncommon.7,13 of a patient with 11 peripheral neuropathy nostically significant. To be confi- ANATOMIC, PHYSIOLOGIC, is to identify the cause dent of a causal relationship between whenever possible, a a test abnormality and peripheral AND PATHOPHYSIOLOGIC common category of neuropathy, the clinician should con- CONSIDERATIONS IN polyneuropathy is sider the neuropathy pattern and the PERIPHERAL NEUROPATHY chronic idiopathic contextual features in each case, Understanding peripheral nerve anat- axonal polyneuropathy, allowing generation of a relevant dif- omy and physiology is required for which may represent ferential diagnosis aligned with these adequate clinical assessment and close to a half of features. Judicious testing in the proper electrodiagnostic study design. Under- patients with neuropathy clinical context reduces the risk of false- standing the pathophysiology of the in some populations. positive testing. disorder allows for rational therapeu- h Accurate diagnosis of As with any diagnostic assessment, tic strategy and prognostication. In polyneuropathy directs the patient should be advised of the view of their unique anatomic and treatment in a limited risks and benefits involved in the physiologic properties, peripheral number of cases but diagnostic workup. Ideally, a treatable nerves are vulnerable to multiple also provides the benefit disorder is identified; however, diag- potential insults.14 of diagnostic closure, opportunities for nosis may be elusive. Following eval- Axonal Polyneuropathies education regarding the uation, 20% to 50% of patients are natural history of the designated as chronic idiopathic axo- The viability of peripheral nerves disease, and a means nal polyneuropathy or chronic axonal depends on the metabolic capabilities 1,3,4,7,11 by which to prevent polyneuropathy. Although a of anterior horn cells and dorsal root and address potential 2016 study reported that a diagnosis ganglia and effective axon transport. future morbidities. could be achieved in two-thirds of The latter is bidirectional and essential 284 patients with chronic idiopathic for axonal nutrition and support for axonal neuropathy when reevaluated, the normal turnover of organelles over half of these individuals were (particularly mitochondria) and pro- assigned a diagnosis that should have teins (such as microtubules and been apparent on initial evaluation neurofilaments).15 Anterograde trans- (eg, diabetic neuropathy, chronic port from cell body to neuromuscular 1242 ContinuumJournal.com October 2017 Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited. KEY POINT junction along axons is dependent on myelin sheath. Peripheral nerve myelin h Disordered axonal the kinesin family of molecular mo- of Schwann cell origin is compacted transport is thought tors; retrograde transport depends on along the internode, noncompacted at to be the mechanism the dynein/dynactin complex. Animal the paranode (allowing for increased underlying the models using nerve toxins have surface area of potential pathogenic pathophysiology of shown disruption of critical axon significance), and absent at the nodes most toxic and transport proteins resulting in distal of Ranvier (where ion channels are metabolic neuropathies axonal degeneration. This can be read- concentrated). Predominantly demye- and some hereditary ily extrapolated to the pathophysio- linating peripheral neuropathies neuropathies. logic basis for toxic or metabolic affecting myelin or Schwann cells length-dependent neuropathies in may be either acquired or heritable humans.1,16Y20 The same neuropathy (Table 1-1).19,22,23 Demyelinating
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