Title

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

Document Type

Presentation

Publication Date

5-27-2015

Abstract

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.

Sponsorship/Conference/Institution

American College of Sports Medicine Annual Conference (ACSM)

Location

San Diego, CA

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