title: Facial onset sensorimotor neuronopathy syndrome:  a case series.
abstract: 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.
authors.affiliation: Neuromuscular Section, Department of Neurology, The University of Kansas Medical Center, Kansas City, KS, USA.
authors.forename: Dobrin
authors.initials: D
authors.lastname: Dobrev
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Barohn
authors.forename: Neil E
authors.initials: NE
authors.lastname: Anderson
authors.forename: Dean
authors.initials: D
authors.lastname: Kilfoyle
authors.forename: Saud
authors.initials: S
authors.lastname: Khan
authors.forename: April L
authors.initials: AL
authors.lastname: McVey
authors.forename: Laura
authors.initials: L
authors.lastname: Herbelin
authors.forename: Mazen M
authors.initials: MM
authors.lastname: Dimachkie
mesh_terms: D000368:Aged; D001767:Blinking / Q000502:physiology; D003402:Creatine Kinase / Q000378:metabolism; D005155:Facial Nerve Diseases / Q000150:complications* / Q000473:pathology; D005260:Female; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009046:Motor Neurons / Q000473:pathology; D018482:Muscle, Skeletal / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology*; D014059:Tongue / Q000503:physiopathology
chemical_list: D003402:Creatine Kinase