Xq22.3 Telomeric Deletion Syndrome

1. Causes of the disease

Xq22.3 telomere deletion syndrome is a disease caused by the deletion of a gene in the q22.3 region of the X chromosome. The deletion of this region causes the gene to malfunction, resulting in neurological and physical problems.

2. Symptoms

• Developmental delays : There may be delays in the development of language and motor skills.
• Hypotonia : Muscle tone may decrease, affecting your ability to exercise.
• Intellectual disability : Mild to moderate intellectual disability has been reported.
• Other physical abnormalities : Skeletal and visceral abnormalities may be present.

3. Treatment

• Developmental Support : Support development through physical therapy, speech therapy, occupational therapy, and more.
• Muscle management : Rehabilitation is carried out to maintain muscle strength and improve athletic ability.
• Medical Management : Medical management is provided as needed.

4. Prognosis

With the right support and medical care, people can expect to improve their quality of life, but prognosis varies depending on the severity of their symptoms and whether or not they receive treatment.

5. The burden on parents

Since long-term medical management and rehabilitation are required, this can place a financial and psychological burden on families. It is important to establish a support system for the whole family by coordinating with support groups and medical institutions.