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

Status: Unknown
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• Having lesch-nyhan syndrome

Locations
Other Locations
Turkey
Üsküdar Üniversity
RECRUITING
Istanbul
Contact Information
Primary
tuba kolaylı, MSc.
tubakolayli@gmail.com
+905413698977
Time Frame
Start Date: 2022-09-26
Completion Date: 2022-09-30
Participants
Target number of participants: 1
Sponsors
Leads: Uskudar University

This content was sourced from clinicaltrials.gov