Genetics

Question 1

Niemann-Pick

Answer 1

cherry red spots + HSM

acid spingomyelinase

Question 2

Tay Sachs

Answer 2

cherry red spots

hexosaminidase A

Question 3

Fabry

Answer 3

galactosidase

progressive renal failure

Question 4

Krabbe’s

Answer 4

globoid cell leukodystrophy
AR
seizures, limb stiffness

Question 5

Metachromatic Leukodystrophy

Answer 5

airysulfatase A

Question 6

Hurler’s

Answer 6

gargoylism

corneal clouding

Question 7

Hunter’s

Answer 7

aggressive, clear vision

Question 8

Tuberous Sclerosis

Answer 8

hypopigmented lesions
adenoma sebaceum
seizures

Question 9

NF 1

Answer 9

chromosome 17
hyperpigmented lesions (cafe au lait spots)
Lisch nodules
pheochromocytomas

Question 10

Sturge Weber

Answer 10

port wine
heimparesis, siezures
ipsilateral leptomeningeal angioma

Question 11

von-Hippel-Lindau

Answer 11

chromosome 3
cavernous hemangiomas
bilterall RCC
retinal hemangioblastoma

Question 12

Duchenne’s

Answer 12

quick onset
fibrofatty calf muscle replacement
kyphoscoliosis
Gower’s maneuver

Question 13

Becker’s

Answer 13

longer onset

less severe than Ducheenne’s

Question 14

Myotonic dystrophy

Answer 14

hatchet facies
frontal balding
abnormally slow muscle relaxation
cataracts 
gonadal atrophy

Question 15

von Hippel Lindau at risk for

Answer 15

pheochromocytoma

Question 16

Friedreich’s ataxia transmission

Answer 16

AR repeat disorder - GAA

Question 17

Friedreich’s ataxia

Answer 17

kyphoscoliosis, staggering gait
frequent falling, nystagmus
dysarthria, pes cavus
hypertrophic cardiomyopathy