Hereditary neuralgic amyotrophy caused by SEPT9 gene mutation in a family / 中华神经科杂志

ABSTRACT

Objective:To analyze the clinical characteristics of hereditary neuralgic amyotrophy caused by SEPT9 gene mutation in a family to promote understanding this disease.Methods:The clinical manifestations, examination, imaging and electrophysiology of a family with hereditary neuralgic amyotrophy diagnosed by gene testing in the 960th Hospital of People′s Liberation Army in August 2013 were retrospectively analyzed.Results:The age of the onset ranged from children to middle-aged. The parent-child couples demonstrated the existence of marked anticipation, with earlier age of onset in successive generations. Male and female were involved. The forearm had circular skin creases at a young age. The sudden upper limb pain and weakness were first symptoms, the distal upper limb muscle weakness was more obvious than the proximal, and the wrist was saggy. The course was described as relapsing-remitting, and there were sufficient laxity of the skin and generalized muscle wasting. The cerebrospinal fluid examination and magnetic resonance examination of brachial plexus nerve were normal. The electrophysiology was limited to the peripheral nerve damage of the double upper limbs.Conclusions:Relapsing-remitting focal brachial plexus pain and weakness are the main manifestations of hereditary neuralgic amyotrophy, and the laxity of the skin and generalized thin muscle appear on sequel stage of the clinical repeated attack. The electrophysiological lesion is limited to brachial plexus nerve.