NCT05548751

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 1 (estimated)
• Sponsor: Uskudar University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Detailed description

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 was described by Lesch and Nyhan in 1960. It is a genetic disorder that is carried by an X-linked recessive gene and is therefore predominantly seen in males. LNS has 3 typical symptoms. These are increased uric acid, neurological symptoms and behavioral disorders. Self-harming behavior begins to appear from the age of 2. Dystonia is often seen among its neurological manifestations. Signs of primidal and extraprimidal system can be seen. As developments in treatment methods continue in individuals with LNS, the expected life expectancy of these individuals is prolonged. However, these individuals require physiotherapy for symptoms specific to LNS. Because of the developmental delay seen in babies with LNS, these babies may be diagnosed with cerebral palsy. 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

Timeline

• Start date: 2022-09-26
• Primary completion: 2022-09-30
• Completion: 2022-09-30
• First posted: 2022-09-21
• Last updated: 2022-09-21

Locations

1 site across 1 country: Turkey (Türkiye)