ArticleInternal medicine (Tokyo, Japan)2023
Hereditary Neuralgic Amyotrophy with a Lesion Distal to the Brachial Plexus on Magnetic Resonance Imaging.
Article in Internal medicine (Tokyo, Japan), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 0 citations in OpenAlex.
- Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic Amyotrophy.European journal of neurology · 2026Observational
- SEPTIN9 R106W in a Chinese family with hereditary neuralgic amyotrophy: phenotypic heterogeneity and rehabilitation in a pediatric case.Frontiers in genetics · 2026Article
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7 authors at 1 institution in 1 country.
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Abstract
A 35-year-old woman first experienced left upper limb weakness at 17 years old, after which it repeatedly recurred and then remitted. She was diagnosed with carpal tunnel syndrome with median nerve hyperintensity by magnetic resonance imaging (MRI). Surgical treatment was ineffective. We suspected hereditary neuralgic amyotrophy because of enlargement distal to the brachial plexus on MRI and administered steroid therapy, after which the weakness improved. Genetic testing revealed a point mutation in SEPT9. Because lesions outside the brachial plexus can be seen in hereditary neuralgic amyotrophy, the diagnosis should be based on typical characteristics and the family history.
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