Skip to main content
. Author manuscript; available in PMC: 2017 Sep 25.
Published in final edited form as: JAMA Neurol. 2015 May;72(5):561–570. doi: 10.1001/jamaneurol.2014.4769

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.