CC6: Diseases of Muscle

Question 1

Gower’s sign and calf hypertrophy, Achille’s tendon contraction and high Creatine Kinase level

Answer 1

Duchenne Muscular distrophy

Question 2

Duchenne muscular dystrophy symptons:

Answer 2

1.Onset in childhood
2.x linked recessive
3. calf hypertrophy
4. high CK
5. cardio late issues

Question 3

What is Duchenne m.d. related with what mutation?

Answer 3

x linked recessive mutation

Question 4

Clinical evalutation of myopathies, check for:

Answer 4

proximal weakness
Creatine kinease elevated
EMG, NCS
sensory signs
progressive

Question 5

Largest known human gene: 79 exons

Answer 5

dystrophin

Question 6

mutations of dystrophin?

Answer 6

deletions and duplications

Question 7

an example of a milder dystrophinopathy:

Answer 7

Becker’s MD

Question 8

Limb girdle symptoms:

Answer 8

weakness in proximal muscles
dysfunctional sarcolemma
many gene etiologies

Question 9

proteins of LGMD:

Answer 9

sarcoglycans
miofibrils
caveolins
dystrophin
dysferlin

Question 10

High creatine kinase, hand cramping, early cataracts, branch block

Answer 10

Myotonic Dystrophy - DM1

Question 11

most prevalent inherited neuromuscular disease in adults

Answer 11

DM1 - myotonic dystrophy

Question 12

Cramp-like phenomenon with involuntary persistent muscle contraction

Answer 12

myotonia

DM1

Question 13

myotonic dystrophy protein product:

Answer 13

DMPK affected by CTG repeats

Question 14

floppy baby, hypotonnic weak, weak suck, develop delay

Answer 14

congenital myopathies

Question 15

hoow to check for diagnosis of a congenital myopathies:

Answer 15

muscle biopsy, genetical test

Question 16

examples of congenital myopthies:

Answer 16

centronuclear - myotubular
nemaline - rod body
central core

Question 17

muscle pain dark urine, CK changes, muscle cramping

Answer 17

metabolic myopathies

Question 18

examples of metabolic myopathies

Answer 18

thyroid
glycogen metabolism
lipid
mitochondrial
ion channel

Question 19

myo- phosphorylase deficiency

Answer 19

McCardle’s disease

Question 20

innefective glucose metabolism in muscle causing cramps

Answer 20

McCardle’s disease

Question 21

McCardle’s disease causes:

Answer 21

glycogen accumulation in muscle

Question 22

Ineffective lipid metabolism in muscle when this transporter protein not available or diminished

Answer 22

Carnitine deficiency

Question 23

what is carnitine’s function

Answer 23

transports long chain fatty acids across the mitochondrial membrane

Question 24

Maternal, Non-mendelian
inheritance

Answer 24

mitochondrial myopathies

Question 25

External ophtalmoplegia (paralysis of the extraoccular muscles) is a frequent clinical presentation

Answer 25

mitochondrial myopathies