CDM

Question 1

What is dysferlinopathy

Answer 1

Limb girdle muscular dystrophy

Question 2

Dysferlinopathy features

Answer 2

Autosomal recessive
CK raised and progressive proximala muscle weakness

Question 3

Alagille syndrome example

Answer 3

18 month old girl with congenital cardiac defect (tetralogy of Fallot), who developed jaundice and conjugated hyperbilirubinaemia. She also has deep set eyes, a broad forehead and a pointed chin. She is the first and only child of unrelated parents, and there is no family history of congenital heart disease

Question 4

Alagille syndrome features

Answer 4

Paucity of bile ducts - characteristic

NOTCH2 also asspciated

Missense variatn JAG1 - reduction in qunatitiy or function of protein

Question 5

What does WD34A5 cause

Answer 5

WD34A5 brain iron accumulation, learning difficulties and seizures gradual deterioration