Upper Extremity Functional Characteristics of 8-Year-Old Patient with Charcot-Marie-Tooth 1E

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Abstract or Description

Purpose: Charcot-Marie-Tooth type 1E (CMT 1E) is a demyelinating neuropathy resulted from PMP22 gene point mutations, accompanied often with deafness. The purpose of this case study is to offer a clear clinical picture for CMT 1E by reporting a case of 8 years old patient, in order to assist clinicians with accurate and effective rehabilitation management so as to improving patients’ quality of life.

Methods: The patient of this study was an 8-year-old male who was diagnosed as CMT 1E at 18 months with a history of both fine and gross motor delay. He uses bilateral ankle-foot orthose, crocodile walker, amtryke tricycle, and wheelchair to obtain a normal functional behavior at school and home. The patient is been treated with both occupational and physical therapy simultaneously. Postural observation, neuromuscular examination, Manual Muscle Testing (MMT) and Beery visual-motor integration (VMI) were employed to estimate the functional impairment.

Results: Physical therapy results in fairly strong, 3+ to 4 on a 0-5 MMT, lower extremity strength at the hip, knee and ankle joints. Abnormal gait pattern was found and identified as walking on heels with no toe-off. Balance deficits observed for standing, sitting as well as walking related with poor postural strength and endurance. Asymmetry occurred when his hip rotated internally. Beery VMI results in 65, 0.1, 4 percentile in motor coordination, visual perception and VMI, which are corresponding to 3 year 9 month, 9 year 8 month and 5 year 6 month age equivalent. Fatigue was experienced while he was commencing tasks of upper extremity coordination.

Conclusions: In this extremely young case of CMT 1E, patient exhibited functional impairments in balance, gait, and especially upper extremity motor and visual-motor coordination. The severe upper body functional deficits were mainly explained by underdevelopment of sensory system and fine motor control.


American College of Sports Medicine Annual Conference (ACSM)


San Diego, CA