Alexander disease type I
ORPHA: 363717
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Alexander disease type I, sourced from HPO and Orphanet clinical annotations.
Abnormal cerebral white matter morphologyFocal T2 hyperintense basal ganglia lesionSeizureCerebellar atrophyFailure to thriveScoliosisProgressive macrocephalyAbnormal pyramidal signAbnormal thalamic MRI signal intensityRosenthal fibersHydrocephalusAtaxiaSpasticityDysarthriaGlobal developmental delayHyperreflexiaDysphagiaCachexiaHypotoniaGeneralized hypotoniaVomitingPalatal tremor
Classification & Codes
Orphanet Code
ORPHA:363717Alexander disease type I
| Orphanet | ORPHA:363717 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO