ABSTRACT Background Neuralgic amyotrophy (NA) causes acute episodes of neuropathic pain in the upper limbs, followed by weakness and atrophy. NA can be idiopathic (INA) or hereditary (HNA). The SEPTIN9 gene has been linked to HNA. This study aimed to characterize the clinical and prognostic features of patients with SEPTIN9 ‐related HNA. Methods This retrospective multicenter study included all adult patients diagnosed with SEPTIN9 ‐related HNA in France from January 2012–June 2025. INA patients were included as controls. Results Twelve patients with SEPTIN9 ‐related HNA and 25 with INA were included. A family history of NA (75%) and dysmorphic features (50%) were reported exclusively in the SEPTIN9 group. The median age at neurological episode was significantly lower in the SEPTIN9 group (26.0 years) than in the INA group (38.5 years; p < 0.01). Multiple episodes were more frequent in the SEPTIN9 group (75%) than in the INA group (24%; p < 0.01). Distal upper‐limb nerves were more frequently affected in SEPTIN9 ‐related HNA episodes than in INA episodes. Sensory symptoms were significantly more frequent in SEPTIN9 ‐related HNA episodes (57%) than in INA episodes (22%; p < 0.01). A higher proportion of SEPTIN9 ‐related HNA patients had a modified Rankin Scale score ≥ 2 (42%) compared with INA patients (16%), although this difference did not reach statistical significance ( p = 0.12). Conclusions While not completely sensitive or specific, certain features may prompt clinicians to suspect a SEPTIN9 ‐related form when assessing a patient with NA: young age, dysmorphic features, a family history of NA, repeated episodes, sensory symptoms, and distal nerve involvement affecting the upper limbs.
Theuriet et al. (Wed,) studied this question.