Clinical management of Krabbe disease

Krabbe disease (KD) is a rare neurodegenerative disorder caused by mutations in the gene encoding the galactocerebrosidase enzyme. The early‐ and late‐infantile subtypes, which are the most common forms of the disease, are rapidly progressive and lead to early death, whereas the later‐onset types ar...

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Bibliographic Details
Published in:Journal of neuroscience research 2016-11, Vol.94 (11), p.1118-1125
Main Authors: Escolar, Maria L., West, Tara, Dallavecchia, Alessandra, Poe, Michele D., LaPoint, Kathleen
Format: Article
Language:English
Subjects:
chronic disease
Disease Management
globoid cell leukodystrophy
Guidelines as Topic
Humans
Krabbe disease
Leukodystrophy, Globoid Cell - diagnosis
Leukodystrophy, Globoid Cell - therapy
palliative care
terminal care
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Summary:Krabbe disease (KD) is a rare neurodegenerative disorder caused by mutations in the gene encoding the galactocerebrosidase enzyme. The early‐ and late‐infantile subtypes, which are the most common forms of the disease, are rapidly progressive and lead to early death, whereas the later‐onset types are clinically heterogeneous. The only disease‐modifying treatment currently available is hematopoietic stem cell transplantation, which is effective only when performed early in the course of the disease. Because most patients with KD are diagnosed too late for treatment, primary care physicians are faced with the challenge of caring for a child with severe neurologic impairment. This Review describes presenting symptoms, diagnosis, and disease manifestations of KD and provides basic guidelines for its management. Symptomatic treatment and supportive care that address the unique requirements of these patients can greatly improve the quality of life of patients and their families. © 2016 Wiley Periodicals, Inc.
ISSN:0360-4012
1097-4547
DOI:10.1002/jnr.23891