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| Disease found: | Alexander Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | Rare neurological disorder [more info] |
| Signs and Symptoms: | Type I: Failure to thrive, psychomotor impairment, seizures, macrocephaly, ataxia, and spasticity. Type II: bulbar/pseudobulbar signs, ataxia, and spasticity [more info] |
| Diagnosis: | MRI [more info] |
| Treatment: | Symptomatic and supportive [more info] |
| Clinical Management: | Symptomatic and supportive [more info] |
| Referral: | ~2 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: | ~1 recruiting [more info] |