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| Disease found: | Aicardi Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | An extremely rare genetic disorder. [more info] |
| Signs and Symptoms: | Involuntary muscle spasms between four months and four years of age. Other symptoms are epilepsy, intellectual disability, hypotonia, microphthalmia, colobomas and/or abnormalities of the ribs and/or spinal vertebral bones. [more info] |
| Diagnosis: | MRI of the brain. [more info] |
| Treatment: | Seizure medication [more info] |
| Clinical Management: | Seizure medication [more info] |
| Referral: | ~ 4 US-based physicians [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | ~ 2 recruiting [more info] |