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. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642

Table 1. Clinical data of the patients.

Case
Age
Sex
Symptom onset
(age in years)
Course
Current status: (age)
functional ability
Current status
Muscle weakness
Current status
Muscle atrophy
CPK/ EMG / Cardiac echography/ EKG/ Vital capacity
Case I
Proband (III:3)
61y
Right hand atrophy / weakness (finger extensors)
(≈ 30y)
Progressive worsening
Around 30y: both hands wasting, inability to stand on heels and tiptoes, 35 y difficulties climbing stairs.
46 y Gowers, difficulties standing from a chair, running inability. Increased weakness of foot evertors, hand finger extensors
52y: cervical myelitis manifesting by left foot extending to whole limb after 6 months. sensory defect without identified cause (Spine MRI T2 sequence hypersignal from C2 to C7)
(normal Brain MRI, normal CSF fluid)
Increased loss of balance and cordonnal pains
53 y: fallings (weakness and balance impairment)
59 y: walk with bilateral aid
(61y)
Walking distance: few hundreds meters with aid Fallings, four to five times monthly
right foot elevator
Difficult walk with steppage and tendency to internal rotation of feet
10 m in 15 s with a cane.
Inability to stand on heels and tiptoes
Rising from chair 9 times in 60 s with two hands
Thigh crossing: difficult
Arm elevation: normal
Painful spinal posterior column syndrome (myelitis)
Lower limbs
Toes extensors 2, except big toe, 1, Peroneus lateralis 1, Tibialis anterior 4, Post legs 2+ Hamstrings 2, Quadriceps 5-
Adductors 2+, Glutei medii 4+, Iliopsoas 3 +
Upper limbs
Finger extensors 3-, index more affected: right index 2, left 2+
Finger flexors 4+
wrist extensors 4
scapular and brachial 5
Axial,facial, oculobulbar normal
in addition: hypoesthesia of whole left lower limb due to myelitis
Legs
(both compartments)
Hand: palmar, mosly thenar region
CK normal
EMG: myogenic
Distal in Lower limbs, Distal + proximal in lower limbs
Nerve: normal
No decrement
Normal echography and EKG
VC: 85%
Case II
Son of case I (IV:2)
33 y
Difficulties standing on tiptoes and heels
fatigability in walking
(14y)
Mild progression
At 16 y, interruption of sport at school and inability to run.
(33y)
Walking distance: 1000 m without aid
No fallings
Climbing stairs with banister
10 m: 12s
Rising from a chair: 24 times in 60 s without aid
Arm elevation: normal
Lower limbs
Peroneus 3-, Tibialis anterior 3+
Toes extensors between 4, and 2 (big toe) Post legs 2
Pelvic and femoral muscles 5
Upper limbs
Finger extensors 4+,
Finger flexors 5
wrist extensors 5
scapular and brachial 5
Axial, facial, oculobulbar normal
Legs, mainly posterior compartment
No atrophy of upper limbs
CK normal
EMG: diffuse myogenic pattern
Nerve: normal
Normal echography and EKG
VC: 86%

Abbreviations: CSF (Cerebral spinal fluid); EKG (Electrocardiogram); EMG (Electromyogram); VC (Vital capacity); CK (Creatine Kinase)