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Shy, Michael E

0000-0001-8460-6971

Mayo Clinic

Department of Neurology, University of Iowa Health Care, Iowa City, IA.

Citations 3

Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy

Neurology | November 12, 2025 | Volume: 105 | Issue: 11 | Pages: No page available

10.1212/wnl.0000000000214425 | PMID 41223342

Inherited neuropathies: Clinical overview and update

Muscle & Nerve | January 31, 2013 | Volume: 48 | Issue: 4 | Pages: 604-622

10.1002/mus.23775 | PMID 23801417

ABSTRACTInherited neuropathy is a group of common neurologic disorders with heterogeneous clinical presentations and genetic causes. Detailed neuromuscular evaluations, including nerve conduction studies, laboratory testing, and histopathologic examination, can assist in identification of the inherited component beyond family history. Genetic testing increasingly enables definitive diagnosis of specific inherited neuropathies. Diagnosis, however, is often complex, and neurologic disability may have both genetic and acquired components in individual patients. The decision of which genetic test to order or whether to order genetic tests is often complicated, and the strategies to maximize the value of testing are evolving. Apart from rare inherited metabolic neuropathies, treatment approaches remain largely supportive. We provide a clinical update of the various types of inherited neuropathies, their differential diagnoses, and distinguishing clinical features (where available). A framework is provided for clinical evaluations, including the inheritance assessment, electrophysiologic examinations, and specific genetic tests.Muscle Nerve48: 604–622, 2013
Limitations of quantitative sensory testing when patients are biased toward a bad outcome

Neurology | May 13, 2012 | Volume: 50 | Issue: 5 | Pages: 1213-1213

10.1212/wnl.50.5.1213 | PMID 9595965