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Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report

NCT05548751 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 1

Last updated 2022-09-21

No results posted yet for this study

Summary

Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism. It is a genetic disorder that is carried by an X-linked recessive gene.

LNS has 3 typical symptoms. These are increased uric acid, neurological symptoms and behavioral disorders. Dystonia is often seen among its neurological manifestations. Signs of primidal and extraprimidal system can be seen.

It is very important to create the syndrome-specific physiotherapy program. In order to achieve this, evaluations based on the International Classification of Functioning, Disability and Health (ICF) model are valuable in terms of showing the right way in the management of the disease.

Conditions

  • Lesch-Nyhan Syndrome

Sponsors & Collaborators

  • Uskudar University

    lead OTHER

Principal Investigators

  • tuba kolaylı, MSc. · Uskudar University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-09-26
Primary Completion
2022-09-30
Completion
2022-09-30

Countries

  • Turkey (Türkiye)

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05548751 on ClinicalTrials.gov