Abstract
Niemann Pick disease type C is a rare, progressive lysosomal lipid storage disease and is inherited in an autosomal recessive manner. Clinical presentation of Niemann Pick disease type C is very heterogeneous. Early diagnosis and appropriate approach including symptomatic and disease-specific treatment can improve the patient’s quality of life. Because of neurological manifestations of the disease, rehabilitation must be a part of the treatment for protecting patients from complications of illness and immobilization. To the best of our knowledge, the rehabilitation protocol for Niemann Pick disease type C has not been reported before. In this article, we presented an 8-year-old female patient who was diagnosed with Niemann Pick disease Type C five years ago and was not able to ambulate for the last one year. She received a comprehensive rehabilitation program for eight weeks in addition to miglustat treatment.
Keywords: Metabolic disease, Niemann Pick disease type C
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Copyright and license
Copyright © 2019 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
