Mucopolysaccharidosis and Rehabilitation

P Harshanand; G Anil Kumar; P Vivek; R Jayasree

doi:10.5005/ijopmr-24-2-44

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Mucopolysaccharidosis and Rehabilitation

P Harshanand, G Anil Kumar, P Vivek, R Jayasree

Citation Information : Harshanand P, Anil Kumar G, Vivek P, Jayasree R. Mucopolysaccharidosis and Rehabilitation. Indian J Phy Med Rehab 2013; 24 (2):44-47.

DOI: 10.5005/ijopmr-24-2-44

Published Online: 00-06-2013

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Abstract

Mucopolysaccharidosis is a rare lysosomal storage disorder with overall prevalence of all types is 3.53 per 100,000 live births. Exact figures are not available for Indian population. It has poor prognosis with no easy curative medical or surgical management. This case report describes two cases of mucopolysaccharidosis with type one and type four variant. These cases diagnosed and rehabilitated to increase quality of life. Early identification of such cases by clinical features, supportive investigations and rehabilitation management can help patient to improve functional independence and activities of daily living.

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Postmortem studies on a patient with mucopolysaccharidosis type I: histopathological findings after one year of enzyme replacement therapy. J Inherit Metab Dis 2009;[Medline].
Cumulative incidence rate of mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005;28:1011-7.
Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British Centres. Arch Dis Child 1997;76:92-9
Genetics of mucopolysaccharidosis Type 4 (http://emedicine.medscape.com/article/947254)
aldurazyme.com/pt/treat/az_us_pt_about.asp
Morquio syndrome: a rehabilitation perspective. J Spinal Cord Med 1996; 19: 12-6.

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