Geriatrics- Genetics of Multi-System Disorders

Question 1

Is cystic fibrosis autosomal dominant or recessive?

Answer 1

Autosomal recessive

Question 2

Give an example of a single-gee X linked genetic disorder.

Answer 2

Duchenne muscular dystrophy

Question 4

Haemochromatosis?

Answer 4

Overload of iron, body stores too much iron

->is an inherited condition

Question 5

Give an example of a chromosomal genetic disorder.

Answer 5

Trisomy 21- Down Syndrome

Question 6

NF1?

Answer 6

Neurofibromatosis Type 1

Question 7

What type of inheritance pattern does NF1 follow?

Answer 7

Autosomal dominant

Question 8

What are some of the features of NF1?

Answer 8

Axillary freckles
Lisch nodules- specks in the iris
Thinning of long bone cortex
FH
Neurofibromas- 2 or more
Optic gliomas
Cafe au lait spots

(need 2+ for diagnosis)
Note that these conditions are examples, don’t think we need to know too many details

Question 9

Classic triad for Tuberous Sclerosis (TS)?

Answer 9

Epilepsy
Learning difficulties
Skin lesions

Question 10

What kind of inheritance pattern in TS?

Answer 10

Autosomal dominant

Question 11

What kind of inheritance pattern in myotonic dystrophy?

Answer 11

Autosomal dominant

Question 12

What is a later sign of myotonic dystrophy?

Answer 12

Bilateral late-onset cataract

Question 13

What are some of the symptoms associated with myotonic dystrophy?

Answer 13

Muscle weakness, stiffness and myotonia
Can be associated with low motivation, bowel proble,s and diabetes mellitus