Genetic

Question 1

inheritance of NF1

Answer 1

autosomal dominant

Question 2

Symptoms of NF1

Answer 2

cafe au lait spots, neurofibromas, axillary freckling, litchi nodules, optic glioma, thinning of long bone cortex, family history , dysmorphic features, learning difficulties, raised BP (renal artery stenosis), scoliosis, epilepsy

Question 3

Management of NF1

Answer 3

annual review of individuals (looks at bp, scoliosis, unusual angulation of tibia, visual defects, unusual symptoms) and at risk children until diagnosis is excluded at 5 years of age

Question 4

symptoms of NF2

Answer 4

acoustic neuromas often bilateral, CNS and spinal tumours, a few cafe o lait spots

Question 5

where is the mutation on NF1

Answer 5

17 Q

Question 6

where is the mutation of NF2

Answer 6

inchromosome 22

Question 7

inheritance of NF2

Answer 7

autosomal dominant

Question 8

Tuberous Sclerosis symptoms

Answer 8

Epilepsy, learning difficulties, skin lesions is the triad.

kidney issues, ohakomas in the eye, nodules in the brain

Question 9

Myotonic dystrophy is caused by what?

Answer 9

CTG repeat - get increased severity in the generations

Question 10

clinical features of myotonic dystrophy

Answer 10

bilateral late onset cataract, muscle weakness, stiffness, myotonia, low motivation, bowel issues, diabetes mellitus, heart block, post anaesthetic death if not monitored, severe muscle disorder and learning disability.