Sandhoff disease
Autozomálně recesivní
Deficiency of both hexosaminidase A and B causes progressive neurological decline, exaggerated startle and cherry-red spots in infants, with juvenile and adult forms causing ataxia, weakness or psychiatric symptoms.
Co se diagnózou změní
Treatment is supportive; carrier testing of relatives is possible once the familial variants are known.
Analyzované geny
Známé také jako
GM2 gangliosidosis 0 variant; Hexosaminidases A and B deficiency; Sandhoff Jatzkewitz disease
Zahrnuje 3 příbuzných podtypů ↓Skrýt podtypy ↑
- Sandhoff disease, adult form
- Sandhoff disease, infantile form
- Sandhoff disease, juvenile form
