Continuum : lifelong learning in neurology
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This article provides a review of the clinical phenotypes and evaluation of peripheral nerve hyperexcitability syndromes. These rare diagnoses include cramp-fasciculation syndrome, Isaacs syndrome, and Morvan syndrome. Recent investigations have led to an understanding of the autoimmune underpinnings of these conditions and their specific associated antibodies. As the presentation of peripheral nerve hyperexcitability syndromes includes muscle stiffness, twitches, and spasms, which are also shared with certain central nervous system and myopathic conditions, the differential diagnosis of peripheral nerve hyperexcitability syndromes is reviewed. ⋯ The diagnosis of peripheral nerve hyperexcitability syndromes requires a high index of suspicion, support from the physical examination, familiarity with the spectrum of symptoms associated with peripheral nerve hyperexcitability syndromes, and recognition of diagnostic EMG features. Voltage-gated potassium channel complex antibodies are associated with these conditions. Optimum treatment and autoimmune pathogenesis remain areas of active research.
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Continuum (Minneap Minn) · Oct 2017
ReviewDiagnosis and Clinical Management of Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders.
This article reviews the clinical features, diagnostic pathway, therapies, and current understanding of the pathophysiology of amyotrophic lateral sclerosis (ALS). The spectrum of motor neuron diseases is reviewed, and the clinical heterogeneity of ALS is described. ⋯ ALS is a progressive fatal multisystem neurodegenerative disease primarily affecting motor neurons. Clinical recognition of suspicious symptoms and the appropriate laboratory evaluation are essential to limit diagnostic delay and avoid unnecessary testing and procedures. ALS has broad genetic and hypothesized environmental causes and phenotypic variability. Recognizing related motor neuron diseases will prevent misdiagnosis while allowing proper disease counseling. Although ALS cannot be cured, implementation of appropriate symptomatic treatment is valuable.