Table 1

Clinical and instrumental assessments
Pt1 Pt2
Current age 68 60
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)
MEPs Bulbar/UL/LL N.A./0/0 1/1/3
SEPs UL/LL 1/1 0/1
BAEPs NA NA
VEPs 0 0
Autonomic testing 0 0
Clinical scoring **
Dysarthria/dysphagia 2 2
Gait abnormalities 1 3
Spasticity 0 3
Axial Ataxia 1 0
Limb dysmetria 2 0
Limb weakness 0 2
Muscle wasting 0 1
Sphincter function 2 0

* 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

Open Data