Rett syndrome is a rare genetic disorder primarily affecting females, caused by mutations in the MECP2 gene. It significantly impacts brain development, leading to severe physical and intellectual impairments.
Key Symptoms:
- Developmental Regression: After initial normal growth, children lose previously acquired skills, such as speaking or using their hands.
- Hand-Wringing Movements: Constant, repetitive motions are a hallmark of Rett syndrome.
- Motor Problems: Loss of coordination, inability to walk, or scoliosis are common.
- Communication Challenges: Difficulty with verbal and non-verbal communication, often accompanied by social withdrawal.
Therapies and Management:
There is no cure for Rett syndrome, but therapies can improve quality of life:
- Physical therapy for motor function.
- Speech therapy to develop non-verbal communication skills.
- Medications for seizures or mood disorders.
Early intervention is critical to maximizing a child’s developmental potential.
Early diagnosis and therapy are critical for managing symptoms. Countryside Neurology offers specialized care for rare conditions. Schedule an appointment at 717-712-1567 or visit us at 2595 Tampa Rd, Suite V&W. Follow us on Instagram @countrysideneurology for more resources.
