RT Journal Article
SR Electronic
T1 Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND)
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 424
OP 426
DO 10.1136/practneurol-2018-002188
VO 19
IS 5
A1 Pinto, Wladimir B V R
A1 Farias, Igor Braga
A1 Badia, Bruno de Mattos Lombardi
A1 Libardi Silva, Luiz Henrique
A1 Yanagiura, Mario Teruo
A1 Chieia, Marco Antônio Troccoli
A1 Souza, Paulo Victor Sgobbi de
A1 Oliveira, Acary Souza Bulle
YR 2019
UL http://pn.bmj.com/content/19/5/424.abstract
AB Atypical motor neurone disease (MND) represents a challenging and expanding group of neurodegenerative disorders involving the upper or lower motor neurones, and rarely both. Neuro-ophthalmological disturbances such as gaze-evoked downbeat nystagmus are extremely rare in the context of typical and atypical MND. Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND) syndrome has been recently recognised as a distinct syndromic phenotype of MND, with a characteristic clinical picture. We describe a 63-year-old woman with long-standing lower motor neurone involvement of the upper limbs, who on examination had gaze-evoked downbeat nystagmus. After extensive negative investigation for secondary causes of MND and downbeat nystagmus, we diagnosed FEWDON-MND syndrome.