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Open Access 01-03-2013 | Review

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA

Authors: Christian J. Hendriksz, Maisoon Al-Jawad, Kenneth I. Berger, Sara M. Hawley, Rebecca Lawrence, Ciarán Mc Ardle, C. Gail Summers, Elizabeth Wright, Elizabeth Braunlin

Published in: Journal of Inherited Metabolic Disease | Issue 2/2013

Abstract

Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity of these skeletal manifestations, the non-skeletal manifestations are frequently overlooked despite their significant contribution to disease progression and impact on quality of life. This review provides detailed information regarding the non-skeletal manifestations and suggests long-term assessment guidelines. The visual, auditory, digestive, cardiovascular, and respiratory systems are addressed and overall quality of life as measured by endurance and other functional abilities is discussed. Impairments such as corneal clouding, astigmatism, glaucoma, hearing loss, hernias, hepatomegaly, dental abnormalities, cardiac valve thickening and regurgitation, obstructive sleep apnea, tracheomalacia, restrictive and obstructive respiratory compromise, and muscular weakness are discussed. Increased awareness of these non-skeletal features is needed to improve patient care.

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Title: Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA
Authors: Christian J. Hendriksz
Maisoon Al-Jawad
Kenneth I. Berger
Sara M. Hawley
Rebecca Lawrence
Ciarán Mc Ardle
C. Gail Summers
Elizabeth Wright
Elizabeth Braunlin
Publication date: 01-03-2013
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 2/2013
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-012-9459-0

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