Aicardi Syndrome

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

An extremely rare genetic disorder.

Common symptoms

Involuntary muscle spasms between four months and four years of age. Other symptoms are epilepsyintellectual disabilityhypotoniamicrophthalmiacolobomas and/or abnormalities of the ribs and/or spinal vertebral bones. [ ]

When to suspect

  • Recommendation 1

    MRI of the brain.

How to test

  • Recommendation 1

    MRI of the brain.

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

Treatment

  • Recommendation 1

    Seizure medication

Primary care

  • Recommendation 1

    Seizure medication

Further support

  • Recommendation 1

    ~ 4 US-based physicians . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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