|Clinical and instrumental assessments|
|Age at onset||55||46|
|Disease duration at the time of examinations, years||13||14|
|Instrumental assessment *|
|Cognitive: MMSE score||16/30||30/30|
|EMG||0||Mild motor axonal neuropathy (1)|
|Clinical scoring **|
* For neurophysiological assessments, values are graded as 0 (normal), 1 (abnormality not exceeding 25% of upper/lower normal ranges), 2 (between 25 and 50%), and 3 (beyond 50%).
** For clinical dysfunctions, abnormalities are graded as 0 (normal), 1 (only objective signs), 2 (mild dysfunction, not interfering with activities), 3 (severe dysfunction interfering with walking, feeding, or social interactions).
MMSE: mini–mental state examination; EMG: Electromyography; MEPs: Motor evoked potentials; SEPs: Sensory evoked potentials; UL/LL: upper/lower limbs; BAEPs: Brainstem Auditory Evoked Potentials; VEPs: visual evoked potentials.
Melchionda et al.
Melchionda et al. Orphanet Journal of Rare Diseases 2013 8:66 doi:10.1186/1750-1172-8-66