Abstract
Introduction: Morquio A is classically described as a skeletal dysplasia, but the impact of the abnormalities on the upper limb has not been described.
Aim: The aim of our study is to assess the level of subjective and objective functions of the hand and upper limb in Morquio A patients in order to advance understanding as this may change future management for this complex group of patients.
Method: We have evaluated a series of ten patients with Morquio syndrome who are currently part of the enzyme replacement therapy trials in our unit. To establish functional levels, we developed a questionnaire based on the principles of the World Health Organization International Classification of Functioning, Disability and Health (WHO ICF). Furthermore, we measured patients’ grip function and range of motion.
Results: All patients showed hypermobility and limited control of the wrist. Their grip strength was reduced and they showed higher difficulty levels for activities involving strength. It is feasible that the wrist abnormalities may be the major cause of functional loss for Morquio patients.
Conclusion: Our findings suggest the wrist itself represents an area that we should focus on to be able to improve the patients’ functional abilities and hence their level of independence on day-to-day basis.
Competing interests: None declared
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Communicated by: Ed Wraith
Appendices
Take-Home Message
Patients with Morquio syndrome show difficulties in daily living and the upper limb abnormalities contribute significantly to their disability.
The authors have nothing to declare or any competing interests.
The authors confirm independence from any sponsors.
Ethical approval was obtained prior to the study from NRES Committee West Midlands – Staffordshire. REC reference: 11/H1203/5
Contributors
Riffat Aslam is the first author and was involved in the conception and design of the research, the seeking of ethics approval, assessment of patients and collection of data, interpretation of data and write up of the research. She is the corresponding author.
Annelotte van Bommel was involved in data collation and interpretation as well as in revising the article in various draft formats.
Chris Hendriksz is a leading academic on Morquio patients and is a senior author to the article. He was involved in drafting the article and revising it critically for intellectual content.
Andrea Jester is the senior author and guarantor of the article. She has been involved in conception, methodology, assessment of patients, data analysis, drafting and revising the article critically for important intellectual content.
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Aslam, R., van Bommel, A.C.M., Hendriksz, C.J., Jester, A. (2012). Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients. In: Zschocke, J., Gibson, K.M., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports – Case and Research Reports, 2012/6. JIMD Reports, vol 9. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_179
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DOI: https://doi.org/10.1007/8904_2012_179
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