Neuralgisk amyotrofi er en overset diagnose ved akutte skuldersmerter

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Abstrakt

Neuralgic amyotrophy (NA) is characterized by sudden onset of severe pain in the shoulder/upper arm and muscle amyotrophy. Up to 60% of patients with NA are misdiagnosed as having shoulder joint pathology or cervical pathology. We report a case of a 13-year-old girl diagnosed with the hereditary form of NA (HNA). Array comparative genomic hybridization showed a maternally inherited duplication of 1.5 Mb including the entire SEPT9-gene. The girl was treated with non-steroidal anti-inflammatory drugs, corticosteroids and physiotherapy. Individuals with HNA should avoid extreme muscle activity and severe cold, as this may trigger attacks.

OriginalsprogDansk
ArtikelnummerV04160292
TidsskriftUgeskrift for Laeger
Vol/bind178
Udgave nummer21
Sider (fra-til)2-3
ISSN0041-5782
StatusUdgivet - 2016

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