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

Uskudar University

Status

Enrolling

Conditions

Lesch-Nyhan Syndrome

Study type

Observational

Funder types

Other

Identifiers

NCT05548751

UskudarU.

Details and patient eligibility

About

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.

Full 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.

Enrollment

1 estimated patient

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria