Dobrev Dobrin, Barohn Richard J, Anderson Neil E, Kilfoyle Dean, Khan Saud, McVey April L, Herbelin Laura, Dimachkie Mazen M
Neuromuscular Section, Department of Neurology, The University of Kansas Medical Center, Kansas City, KS, USA.
J Clin Neuromuscul Dis. 2012 Sep;14(1):7-10. doi: 10.1097/CND.0b013e31825f82b3.
Facial onset sensorimotor neuronopathy (FOSMN) is a recently described neurological syndrome characterized by slow onset of facial sensory abnormalities and subsequent development of motor deficits. Except for 1 patient, FOSMN has so far been identified only in men.
We describe a case series of 3 women with FOSMN. We report their clinical, laboratory, and neurophysiological findings.
The age of onset ranged from 39 to 72 years (mean, 60 years) with presentation 4-7 years after symptom onset. The first symptom was slowly progressive facial numbness, which was followed years later by dysphagia and impaired corneal reflexes. Dysarthria occurred in 2 patients, and mild arm weakness was noted in 2. Muscle stretch reflexes were increased in 1 patient, and in another case, arm sensation was reduced. Laboratory studies were unremarkable, and magnetic resonance imaging of the brain in 3 patients and of the cervical spine in 2 patients was normal. Nerve conduction studies showed reduced leg compound muscle action potential amplitudes in 1 patient and asymmetrically reduced arm sensory nerve action potentials in another case. In 2 patients, electromyography showed widespread active denervation in arm muscles in conjunction with the involvement of leg muscles in 1 case and the tongue in the other patient. We identified chronic neurogenic motor unit action potentials in the genioglossus muscle of all 3 cases while facial EMG performed in case 3 showed similar findings. Blink reflexes were abnormal in all patients. We treated 1 patient with high-dose intravenous methylprednisolone followed by intravenous immunoglobulin without any improvement, and she required percutaneous endoscopic gastrostomy (PEG) tube placement.
This is the first case series describing 3 women with the FOSMN syndrome. We expand phenotype of FOSMN to include upper motor neuron signs and normal arm sensory nerve action potentials.
面部起病的感觉运动神经元病（FOSMN）是一种最近描述的神经综合征，其特征为面部感觉异常起病缓慢，随后出现运动功能缺损。除1例患者外，FOSMN迄今仅在男性中被发现。
我们描述了一组3例女性FOSMN病例。我们报告了她们的临床、实验室及神经生理学检查结果。
发病年龄为39至72岁（平均60岁），症状出现后4至7年就诊。首发症状为缓慢进展的面部麻木，数年后出现吞咽困难及角膜反射受损。2例患者出现构音障碍，2例有轻度上肢无力。1例患者肌肉牵张反射增强，另1例患者上肢感觉减退。实验室检查无异常，3例患者脑部及2例患者颈椎的磁共振成像均正常。神经传导检查显示1例患者下肢复合肌肉动作电位波幅降低，另1例患者上肢感觉神经动作电位不对称降低。2例患者的肌电图显示上肢肌肉广泛失神经活动，其中1例累及下肢肌肉，另1例累及舌肌。我们在所有3例患者的颏舌肌中均发现了慢性神经源性运动单位动作电位，病例3的面部肌电图检查也显示了类似结果。所有患者的瞬目反射均异常。我们对1例患者采用大剂量静脉注射甲泼尼龙，随后静脉注射免疫球蛋白治疗，但无任何改善，她需要行经皮内镜下胃造口术（PEG）置管。
这是首个描述3例女性FOSMN综合征的病例系列。我们将FOSMN的表型扩展至包括上运动神经元体征及正常的上肢感觉神经动作电位。
