title: [Neuralgic amyotrophy is an overlooked diagnosis by sudden onset of shoulder pain].
abstract: 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.
authors.affiliation: louisejurgensen@gmail.com.
authors.forename: Louise
authors.initials: L
authors.lastname: Jürgensen
authors.forename: Christina
authors.initials: C
authors.lastname: Fagerberg
authors.forename: Maria
authors.initials: M
authors.lastname: Kibæk
authors.forename: Charlotte
authors.initials: C
authors.lastname: Brasch-Andersen
mesh_terms: D000293:Adolescent; D020968:Brachial Plexus Neuritis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005260:Female; D006801:Humans; D020069:Shoulder Pain / Q000209:etiology