Alexander disease
Autosomal dominant
GFAP changes lead to abnormal protein deposits in astrocytes, causing an enlarged head and developmental regression in infants, or problems with swallowing, speech, balance and walking in later onset forms.
What a diagnosis changes
Diagnosis ends the search for a cause, guides supportive care and clarifies the risk for relatives.
Genes analysed
Also known as
alexanders leukodystrophy; ALXDRD; AxD; megalencephaly in infancy accompanied by progressive spasticity and dementia
Includes 2 related subtypes ↓Hide subtypes ↑
- Alexander disease type I
- Alexander disease type II
