Alexander disease
Autozomálně dominantní
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.
Co se diagnózou změní
Diagnosis ends the search for a cause, guides supportive care and clarifies the risk for relatives.
Analyzované geny
Známé také jako
alexanders leukodystrophy; ALXDRD; AxD; megalencephaly in infancy accompanied by progressive spasticity and dementia
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- Alexander disease type I
- Alexander disease type II
