Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Type of publication: Diagnosis, Guidelines
Disease: Charcot Marie Tooth, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Distal hereditary motor neuropathies

Authors:

Alexander M Rossor, Aisling S Carr, Helen Devine, Hoskote Chandrashekar, Ana Lara Pelayo-Negro, Davide Pareyson, Michael E Shy, Steven S Scherer, Mary M Reilly


Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy, for example, spasticity, the type of neuropathy and the other neurological and non-neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories: (1) ataxia, (2) spasticity and (3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy, for example, cardiomyopathy and neuropathy. We also include a separate category of complex inherited relapsing neuropathy syndromes, some of which may mimic Guillain-Barré syndrome, as many will have a metabolic aetiology and be potentially treatable.


Published: 11 September 2017
Journal: Journal of Neurology, Neurosurgery & Pyschiatry, volume 88, issue 10, pages 846-863

doi.org/10.1136/jnnp-2016-313960

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