Table.
Clinical Characteristics
Characteristic | Outcome |
---|---|
No. of affected individuals | 6 |
No. of affected individuals clinically examined | 5 |
Age, mean (SD) [range], y | |
Onset | 36 (12) [19–48] |
Death | 70 (4) [67–75] |
Spasticity | Moderate/severe phenotype |
Weakness | Mild phenotype, proximal |
Muscle wasting | Mild phenotype |
Hyperreflexia | Moderate phenotype |
Plantar reflex | Extensor |
Vibration sensation at ankles | Decreased |
Urinary dysfunction | Mild phenotype |
Additional features (No. of individuals/total individuals) | Foot deformity (2/5) |
Brain MRI | Normal |
Neurophysiology | CMT delayed, normal NCS and EMG |
Abbreviations: CMT, central motor conduction time; EMG, electromyography; MRI, magnetic resonance imaging; NCS, nerve conduction studies.