Muscle and Nerve Disease

Question 1

what symptoms may muscle disease present with?

Answer 1

> failure to thrive in children
> weakness
> short of breath
> poor swallow
> cardiomyopathy
> pain

Question 2

what signs may be present in muscle disease?

Answer 2

> wasting
hypertrophy
normal/reduced tone and reflexes
motor weakness

Question 3

what investigations could you carry out in muscle disease?

Answer 3

> history and examination
> CK
> EMG
> muscle biopsy (structure, biochemistry, inflammation)
> genetic testing

Question 4

what is channelopathies distinguished by?

Answer 4

episodic periods of weakness due to constant polarisation flux of electrolytes

Question 5

name some types of muscle disease

Answer 5

> dystrophies
> channelopathies
> metabolic muscle disease
> inflammatory muscle disease
> congenital myopathies
> iatrogenic

Question 6

name two muscular dystrophies associated with hypertrophy

Answer 6

> duchenne’s

> becker’s

Question 7

what does facioscapulohumeral muscular dystrophy affect?

Answer 7

facial, scapula, arm and biceps leading to muscle weakness

Question 8

name some muscular dystrophies

Answer 8

> duchennes
> beckers
> facioscapulohumeral
> myotonic dystrophy
> limb-girdle

Question 9

what are channelopathies disorders of?

Answer 9

calcium, sodium and chlorine channels

Question 10

name some channelopathies

Answer 10

> familial hypokalemic periodic paralysis
hyperkalemic periodic paralysis
paramyotonia congenita
myotonia congenita

Question 11

name some metabolic muscle disease

Answer 11

> disorders of carbohydrates metabolism
> disorders of lipid metabolism
> mitochondrial myopathies
> endocrinopathy
> biochemical abnormalities

Question 12

name two types of inflammatory muscle disease

Answer 12

> polymyositis

> dermatomyositis (affects the skin as well)

Question 13

what is the effect of inflammatory muscle disease?

Answer 13

painful weak muscles (and sometime characteristic rash)

Question 14

what investigations would you carry out for inflammatory muscle diseases?

Answer 14

> CK (raised)
EMG (inflammation + myopathic)
biopsy

Question 15

what is the treatment for inflammatory muscle disease?

Answer 15

immunosuppression

Question 16

what is myasthenia gravis?

Answer 16

> disorder of the neuromuscular junction

Question 17

describe the clinical presentation of myasthenia gravis?

Answer 17

fatigable weakness: 
> limbs
> eyelids
> muscles of mastication
> taking
> SOB
> diplopia
this affects you as the day goes on, starting out normal and gradually weakening.

Question 18

what investigations would you carry out for myasthenia gravis?

Answer 18

> AChR ab
Anti MuSK ab
neurophysiology (repetitive stimulation, jitter)
CT thorax

Question 19

what can myasthenia gravis be associated with?

Answer 19

thyoma

Question 20

describe acetylcholine release in myasthenia gravis

Answer 20

it si released in surplus at the start then is depleted throughout the day. it then gets to the point where there is not enough acetylcholine to overcome the block at the junction

Question 21

what is the treatment for myasthenia gravis?

Answer 21

> acetylcholinesterase inhibitor (symptomatic)
immunosuppression (prednisolone, steroid saving agent)
immunoglobulin/plasma exchange
thyectomy

Question 22

name some nerve root diseases

Answer 22

> degenerative spine disease
inflammation
infiltration

Question 23

what can a lesion of an individual peripheral nerve cause?

Answer 23

> compression

> vasculitis (stopping blood supply to the nerve)

Question 24

what is affected first in generalised peripheral neuropathy?

Answer 24

the longest nerves as they have the highest energy demand

Question 25

what is generalised peripheral neuropathy associated with?

Answer 25

> metabolic conditions (diabetes, alcohol)
> drugs
> infection (HIV, Lymes, leprosy)
> malignancy
> inflammatory demyelination

Question 26

name an acute inflammatory demyelinating condition associated with generalised peripheral neuropathy

Answer 26

guillain barre syndrome

Question 27

what symptoms and signs would be seen with nerve root disease?

Answer 27

> myotomal wasting and weakness
reflex change
dermatomal sensory change

Question 28

what signs and symptoms would be associated with individual nerve disease?

Answer 28

> wasting and weakness of innervated muscle

> specific sensory change

Question 29

what signs and symptoms would be associated with generalised peripheral neuropathy?

Answer 29

> sensory and motor symptoms starting distally and moving proximally

Question 30

what investigations would you carry out for nerve disease?

Answer 30

> blood tests (b12)
> genetic analysis
> nerve conduction studies
> lumbar puncture
> nerve biopsy

Question 31

describe the signs and symptoms of motor neurons disease

Answer 31

> limb onset
> respiratory involvement later
> LMN: fasciculation's, wasting and weakness
> UMN: increased tone, brisk reflexes
> NO sensory involvement

Question 32

what is the prognosis for motor neurons disease?

Answer 32

> 3-5 years from symptom onset
2-3 years form diagnosis
50% dies within 14 months of diagnosis

Question 33

how is motor neuron disease diagnosed?

Answer 33

> unique combination of upper and lower motor neuron signs

> EMG

Question 34

what is the treatment dorm motor neuron disease?

Answer 34

> supportive

> Riluzole (could do nothing)