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An unusual presentation for SOD1‐ALS: Isolated facial diplegia
Author(s) -
Fratta Pietro,
Hanna Michael G.,
Fisher Elizabeth M.C.,
Sidle Katie
Publication year - 2013
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23958
Subject(s) - fasciculation , medicine , neurological examination , weakness , facial weakness , jaw jerk reflex , atrophy , anatomy , tongue , amyotrophy , physical examination , electromyography , surgery , physical medicine and rehabilitation , pathology
and predominant lower motor neuron involvement, which has been confirmed pathologically. In contrast, other FUS mutations present more frequently with flail arm syndrome or with typical limb or bulbar onset ALS. Our patient with juvenile-onset ALS, an R521C missense mutation, and a flail leg presentation represents an unusual combination. FUS mutations should be assessed in young patients who present with rapidly progressive flail leg syndrome, even in the absence of upper motor neuron signs.