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| Disease found: | Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
| Current as of: | October 8, 2024 |
| Disease Overview: | A rare, progressive neurological disease that causes leukodystrophy. [more info] |
| Signs and Symptoms: | Mild psychological or cognitive changes [more info] |
| Diagnosis: | Diagnosed through genetic testing that identifies a CSF1R gene variant associated with the disease. [more info] |
| Treatment: | Currently no FDA-approved treatments. [more info] |
| Clinical Management: | Anti-epileptic medications for seizures; antibiotics for infections; and muscle relaxers to target spasticity. [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] |