Aicardi Syndrome

Not Verified
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.

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

  • Recommendation 1

    ~ 2 recruiting

Sources

No data available

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