Muscle and Nerve Diseases

Question 1

symptoms of muscle disease

Answer 1

weak skeletal muscle
short of breath (respiratory)
dysphagia
cariomyopathy
cramp, pain, stiffness
myoglobulinuria

Question 2

signs of muscle disease

Answer 2

muscle wasting
normal or reduced tone
motor weakness

Question 3

investigations that can be done in muscle disease

Answer 3

creatine kinase (enzyme of muscle, elevated when muscle damage)
electromyography (EMG)
muscle biopsy
genetic testing

Question 4

muscular dystrophy is genetic/acquired

Answer 4

genetic

Question 5

pathology of muscular dystrophy is an absence or defect of what protein

Answer 5

dystrophin - connects cytoskeleton to extracellular matrix

Question 6

which MD is X linked

Answer 6

Duchenne’s MD

Question 7

what is a channelopathy

Answer 7

a disorder of an ion channel. commonly those of Ca, Na, K or Cl

Question 8

familial hypokalemic periodic paralysis
hyperkalemic periodic paralysis
paramyotonia congenita
myotonia congenita
are all examples of what type of muscle disease

Answer 8

channelopathies

Question 9

myotonia congenita only affects __ channels

Answer 9

Cl

Question 10

paramyotonia congenita only affects __ channels

Answer 10

Na

Question 11

what are metabolic muscle diseases

Answer 11

muscle cells aren’t able to metabolise fuel as well. symptoms are more caused by build up of unused metabolites than the weakness itself

Question 12

types of muscle disease

Answer 12

metabolic
inflammatory
channelopathy
muscular dystrophy

Question 13

how to treat inflammatory muscle disease

Answer 13

immunosuppression

Question 14

myasthenia gravis is a disorder of what part of muscle

Answer 14

the neuromuscular junction

Question 15

presentation of myasthenia gravis

Answer 15

FATIGUABLE WEAKNESS of limbs, eyelids, muscles of mastication, talking, breathing and eye muscles

Question 16

eye symptom of myasthenia gravis

Answer 16

diplopia - from fatigued eye muscles

Question 17

pathophysiology of myasthenia gravis

Answer 17

autoantibodies bind to ACh receptor

Question 18

serum antibodies in myasthenia gravis

Answer 18

anti-acetylcholine receptor antibody (ACh-R)

muscle specific receptor tyrosine kinase (MuSK)

Question 19

investigations in myaesthenia gravis

Answer 19

serum AChR and MuSK antibodies
CT for thymoma (15%)
neurophysiology test repetetive stimulation/jitter

Question 20

symptomatic treatment of myasthenia gravis

Answer 20

ACh-ase inhibitor

Question 21

treatment of myasthenia gravis

Answer 21

ACh-ase inhibitor
immunosuppression by prednisolone or azathioprine
thymectomy
immunoglobulin exchange

Question 22

what surgery may be useful in ~15% of myasthenia gravis

Answer 22

thymectomy

Question 23

what makes up peripheral nerves

Answer 23

sensory axons
motor axons
autonomic axons
myelin sheaths

Question 24

causes of peripheral neuropathy

Answer 24

hereditary
diabetes
alcohol
B12 deficiency
HIV or leprosy
malignancy
guillain barre syndrome
chronic inflammatory demyelinating polyneuropathy

Question 25

symptoms of peripheral neuropathy

Answer 25

sensory and motor starting distally moving proximal

Question 26

symptoms from nerve root damage

Answer 26

reflex change sensory change in dermatome wasting of muscles innervated by that nerve

Question 27

what type of palsy is seen in MND

Answer 27

bulbar - difficulty chewing and talking

Question 28

pathophysiology of MND

Answer 28

degeneration of motor neurons in the anterior horn cells and motor cranial nuclei

Question 29

MND affects UMN/LMN

Answer 29

both - LMN signs usually predominate

Question 30

presentation of MND

Answer 30

fasciculations, wasting, weakness, increased tone, brisk reflexes

Question 31

true/false MND has sensory involvement

Answer 31

false - motor only

Question 32

true/false MND can have cognitive decline

Answer 32

true - in >10%

Question 33

prognosis of MND

Answer 33

50% die in 14 months

Question 34

treatment for MND

Answer 34

supportive for respiration, eating, mobility and speech palliative riluzole can be prescribed to

Question 35

what is myelopathy

Answer 35

injury to the spinal cord due to severe compression

Question 36

what is radiculopathy

Answer 36

range of symptoms from a nerve root being "pinched" | pain, weakness, numbness, tingling

Question 37

presentation of Guillain-Barre syndrome

Answer 37

weakness pain paraesthesiae sensory loss starting in lower limb, reduced/absent reflexes autonomic (reduced sweating, urinary hestitancy)

Question 38

what is Guillain-Barre syndrome

Answer 38

autoimmune demyelinating disease of PNS

Question 39

common history of Guillain-Barre syndrome

Answer 39

preceding infection of resp of GI tract. most commonly epstein barr virus, campylobacter, HIV and cytomegalovirus

Question 40

non-compressive causes of a spinal cord lesion

Answer 40

infarction, haemorrhage, transverse myelitis, HIV, polio, syphilis

Question 41

how does a ACh-ase inhibitor treat myaesthenia gravis

Answer 41

by preventing the breakdown of ACh at the neuromuscular junction