Xp21 Microdeletion Syndrome

1. Causes of the disease

Xp21 microdeletion syndrome is a genetic disorder caused by a small deletion in the p21 region of the X chromosome. This deletion can affect a variety of genes and can result in symptoms related to development, the nervous system, and muscle function. The disease mostly affects males and often occurs as a de novo mutation.

2. Symptoms

• Muscle weakness : Muscle weakness resembling muscular dystrophy may occur.
• Developmental delays : There may be delays in the development of language and motor skills.
• Intellectual disability : May be accompanied by mild to severe intellectual disability.
• Behavioral abnormalities : Hyperactivity and autism-related behaviors may be observed.
• Internal organ abnormalities : Kidney and heart abnormalities may be present in some patients.

3. Treatment

• Muscle management : Physical therapy and exercise therapy are performed to maintain muscle strength.
• Developmental Support : Developmental support is provided using physical, occupational and speech therapy.
• Behavioral Therapy : Psychological support and behavioral therapy are used to manage behavior.

4. Prognosis

Although individual prognosis varies depending on the progression of muscle weakness and other symptoms, early support can improve quality of life.

5. The burden on parents

Long-term medical care and rehabilitation are necessary, which places a heavy burden on families. It is important to reduce the burden on families by coordinating with support groups and medical institutions.