Facial onset sensory and motor neuronopathy (FOSMN) was first described in 2006 as an apparently sporadic neurodegenerative disease. Thirty cases have been reported to date. We summarise six new cases, highlighting the key clinical aspects of FOSMN and how to differentiate it from motor neurone disease (amyotrophic lateral sclerosis). Typically, patients present with slowly evolving numbness of the face followed by bulbar and proximal (neck and arm) weakness. However, one of our patients presented with a motor syndrome and his abnormal blink reflex studies provided a useful diagnostic clue. This extends the spectrum of the syndrome and emphasises that FOSMN should be considered in the differential diagnosis of motor neurone disease. We discuss the pathophysiology, diagnosis, prognosis and management considerations of FOSMN.
- MND - mimic
- Trigeminal sensory nucleus
- Blink reflex
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