What are the first steps after an initial diagnosis of Andermann Syndrome?
After an initial diagnosis of Andermann syndrome, individuals are sent to a multi-disciplinary team made up of a medical geneticist, pediatrician or pediatric neurologist, an orthopedist, a physiotherapist, and an occupational therapist. Evaluations will be done routinely over time, and include a developmental assessment, physical therapy, and team consultation. The developmental assessment determines the baseline of where the child is at in terms of intellectual and developmental milestones and to determine the presence of delays, and monitors progress. The physical therapy assessment determines weakness and presence of contractures, and identifies treatments. The team will routinely monitor for other symptoms involving the face, such as eye problems, curvature of the spine, and psychiatric disturbances.
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Is there a treatment for Andermann Syndrome?
There is currently no cure for Andermann Syndrome. Treatment is supportive and based on symptoms. Treatment may include aids to assist in walking such as canes or wheelchairs, early development and educational intervention, and surgery to fix the abnormal curves in the spine (scoliosis), and sometimes medication for psychiatric symptoms if they develop.
Are there other organ specific treatments/symptom specific concomitant treatments?
Treatment for Andermann Syndrome is supportive and based on symptoms. Treatment may include aids to assist in walking such as canes or wheelchairs, early development and educational intervention, surgery to fix the abnormal curves in the spine (scoliosis), and psychiatric treatment.