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B-32 Free Communication/Poster - Gait Wednesday, May 27, 2015, 1: 00 PM - 6: 00 PM Room: Exhibit Hall F

Upper Extremity Functional Characteristics Of 8-year-old Patient With Charcot-Marie-Tooth 1E

815 Board #211 May 27, 3

30 PM - 5

00 PM

Jiang, Zhuwen; Li, Li FACSM

Author Information
Medicine & Science in Sports & Exercise: May 2015 - Volume 47 - Issue 5S - p 220
doi: 10.1249/01.mss.0000477026.93276.a3
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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.

© 2015 American College of Sports Medicine