P1 GENETICS

Question 1

Heterogeneous group of genetically determined disorders is known as

Answer 1

Muscular dystrophy

Question 2

Causes of MD

Answer 2

• genetic mutations

Question 3

in blood test of MD you’re checking which enzyme

Answer 3

creatine kinase

Question 4

incase of Limb-Girdle MD which muscles are involved first

Answer 4

Shoulders & hips

Question 5

other areas affected in LIMB-GIRDLE MD

Answer 5

heart
Diaphragm / resp. muscles
spine

Question 6

Etiology / genetic predisposition of limb-girdle MD

Answer 6

• autosomal recessive
• autosomal dominance

Question 7

onset of LIMB-GIRDLE MD

Answer 7

before middle / late childhood

Question 8

serum CK levels in LIMB-GIRDLE MD

Answer 8

elevated

Question 9

EMG & muscle biopsy findings in LIMB-GIRDLE MD

Answer 9

Muscular dystrophy

Question 10

prognosis of LGMD

Answer 10

Usually need wheelchair by the age of 30

Question 11

muscles first involved in facioscapulohumeral MD

Answer 11

face , shoulders , upper arms , lower legs

Question 12

gender affected the most by facioscapulohumeral MD

Answer 12

males more than females

Question 13

other areas affected in facioscapulohumeral MD

Answer 13

eyes , ears , heart , trunk

Question 14

Etiology of facioscapulohumeral MD

Answer 14

Autosomal dominance

Question 15

serum CK levels in facioscapulohumeral MD

Answer 15

greatly elevated

Question 16

sign of which muscle dystrophy

Answer 16

facioscapulohumeral MD

Question 17

gender affected with Emery-Dreifuss MD

Answer 17

males

Question 18

muscles first involved in Emery-Dreifuss MD

Answer 18

upper arms & lower legs

Question 19

other affected areas in Emery-Dreifuss MD

Answer 19

heart , spine

Question 20

Etiology of Emery-Dreifuss MD

Answer 20

X- linked recessive
autosomal dominance

Question 21

onset of Emery-Dreifuss MD

Answer 21

5 -15 years of age

Question 22

serum CK levels in Emery-Dreifuss MD

Answer 22

Mildly elevated

Question 23

muscles first involved in oculopharyngeal MD

Answer 23

face ( around the eyes )
neck
upper arms & legs

Question 24

other areas affected in oculopharyngeal MD

Answer 24

throat

Question 25

most common MD

Answer 25

Duchenne

Question 26

gender affected more with Duchenne MD

Answer 26

MALES

Question 27

muscle weakness onset in duchenne

Answer 27

before 5 years

Question 28

muscles first involved in Duchenne MD

Answer 28

upper arms & legs

Question 29

other areas affected in Duchenne MD

Answer 29

brain , throat , heart , spine
stomach , diaphragm ,stomach
Intestines

Question 30

Protein that holds actin to the sarcolemma

Answer 30

Dystrophin

Question 31

mention the 3 Dystrophinopathies

Answer 31

• Duchenne muscular dystrophy / DMD
• Becker muscular dystrophy / BMD
• DMD associated dilated cardiomyopathy

Question 32

Etiology of Dystrophinopathies

Answer 32

X-linked recessive
new mutations

Question 33

Most mutations in Dystrophinopathies

Answer 33

deletions of exons 46-51

Question 34

Quantity of dystrophin in DMD

Answer 34

Absent / severely reduced

Question 35

serum CK levels in DMD

Answer 35

Consistently elevated

Question 36

age of onset of BMD

Answer 36

12 years

Question 37

main presenting feature of BMD

Answer 37

Cardiomyopathy

Question 38

Becker MD commonly affects which gender

Answer 38

males