Pompe Disease Flashcards
1
Q
What type of disorder is Pompe Disease?
A
Glycogen storage disorder
2
Q
What is the inheritance pattern for Pompe Disease?
A
AR
3
Q
What are the clinical features for Pompe disease?
A
- Hypotonia
- Generalized muscle weakness
- Neuropathic bulbar weakness
- Feeding difficulties
- Macroglossia
- Hepatomegaly
- Hypertrophic cardiomyopathy
4
Q
What is the prognosis of infantile Pompe disease?
A
~1yo
