Citation

Gefen R, Dunsky A, Hutzler Y. Phys. Ther. 2014; 95(3): 380-388.

Affiliation

Y. Hutzler, PhD, The Zinman College of Physical Education and Sports Sciences.

Copyright

(Copyright © 2014, American Physical Therapy Association)

DOI

10.2522/ptj.20130479

PMID

25504486

Abstract

BACKGROUND AND PURPOSE: Familial dysautonomia (FD) is a rare genetic autosomal recessive disease which impairs vital functions and causes neural and motor deficiency. These motor deficits are often characterized by static and dynamic instability and an ataxic gait. As a result, persons with FD are at risk of significant physical impairment, therefore posing unique challenges for delivering rehabilitation exercise. Consequently, there is a need for challenging ways to safely and feasibly deliver active exercise rehabilitation to these individuals. CASE DESCRIPTION: This case report describes 3 persons with FD (ages 11, 12, and 22 years) with gait and stability problems, who attended rehabilitation exercises augmented by using an "iPhone application" specifically developed for the current study. OUTCOMES: The Berg Balance scale and the Four Step Test were conducted prior to training, post training, and after two months of follow-up without training. Two participants showed improvements on the Berg scale and on the Four-Step Test at the post test, which were maintained throughout the follow-up.

DISCUSSION: Although greater experience is needed to more fully evaluate the efficiency of the iPhone application used in the current study on persons with FD, the results of these initial cases are encouraging. We recommend systematically and prospectively tracking motor abilities and other functional outcomes during rehabilitation of individuals with FD who use the suggested application in balance training, so as to provide greater evidence in this area.

Language: en