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A 51-year-old man had slowly progressive muscle wasting, weakness, and paresthesia of the right upper limb since age 21 years. His deceased mother had a single episode of painful right… Click to show full abstract
A 51-year-old man had slowly progressive muscle wasting, weakness, and paresthesia of the right upper limb since age 21 years. His deceased mother had a single episode of painful right upper limb paresis. Examination showed severe amyotrophy and hypoesthesia of the right upper limb. Neuroimaging studies disclosed marked involvement of the right brachial plexus (figures 1 and 2). Neurophysiologic studies disclosed severe right brachial plexopathy. Gene panel for inherited neuropathies disclosed pathogenic variant c.278C>T (p.Ser93Phe) in the SEPT9 gene,1,2 confirming the diagnosis of hereditary neuralgic amyotrophy.1,2 SEPT9-related disorders can present as autosomal dominant recurrent or progressive hypertrophic brachial plexus neuropathy.1,2
Journal Title: Neurology
Year Published: 2020
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