Pompe Disease Flashcards Preview

SB_Genetics (Pediatrics Royal College 2018) > Pompe Disease > Flashcards

Flashcards in Pompe Disease Deck (4)
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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
  1. Hypotonia
  2. Generalized muscle weakness
  3. Neuropathic bulbar weakness
  4. Feeding difficulties
  5. Macroglossia
  6. Hepatomegaly
  7. Hypertrophic cardiomyopathy
4
Q

What is the prognosis of infantile Pompe disease?

A

~1yo