Muscle And Nerve Disease

Question 1

What are the common presentations of muscle disorders?

Answer 1

Weakness of skeletal muscle 
Short of breath (weakness of respiratory muscle)
Poor swallowing (causing aspiration)
Cardiomyopathy , arrhythmias 
Cramp
Pain
Stiffness
Myoglobinuria

Question 2

What are the common presentations not of babies with muscle disorders?

Answer 2

Poor suck and feeding
Failure to thrive
Floppy

Question 3

What are their common signs of muscle disease?

Answer 3

Wasting/hypertrophy of muscles
Normal or reduces tone and reflexes
Myotone
Motor weakness

Question 4

What are the common investigations for assessing muscle disorders?

Answer 4

History and examination 
Creating kinase (CK)
EMG
Muscle biopsy 
Genetic testing

Question 5

is inflammatory muscle disease an example of a congenital or acquired muscle disease?

Answer 5

acquired

Question 6

what is the pathology of muscular dystrophies?

Answer 6

cell degeneration - high creatinine kinase (CK)

lose all dystrophin

Question 7

what is the difference between duchesses MD and Bekers MD?

Answer 7

duchesses muscular dystrophy shows loss of all dystrophin

in beckers there is only partial loss of dystrophin as well as abnormal dystrophin

Question 8

what does myotonic dystrophy present commonly with?

Answer 8

cataract esp in people under 50yrs

Question 9

what is the main feature of myotonic dystrophy?

Answer 9

muscles contract and are unable to relax

Question 10

what channels are affected in familial hypokalaemia periodic paralysis?

Answer 10

Na, Ca, K

Question 11

what channel is affected in hyperkalaemic periodic paralysis?

Answer 11

Na

Question 12

what channel is affected in myotonia congenita?

Answer 12

Cl

Question 13

what muscle diseases are the Na channels affected?

Answer 13

familial hypokalaemia periodic paralysis
hyperkalaemic periodic paralysis
paramyotonic congenita

Question 14

in what type of muscle disease would you experience symptoms after short bursts of exercise?

Answer 14

disorders of carbohydrate metabolism - glycogenosis

Question 15

in what type of muscle disease would you experience symptoms after a long endurance exercise?

Answer 15

disorders of lipid (fatty acid) metabolism

Question 16

in what metabolic muscle disease would you find systemic and constant symptoms?

Answer 16

mitochondrial myopathies / cytopathies

Question 17

name 2 inflammatory muscle diseases.

Answer 17

polymyositis

dernatomyositis

Question 18

what investigations would you carry out for inflammation muscle disease?

Answer 18

Creatinine kinase (high)
EMG
biopsy

Question 19

what would the biopsy show if it was positive for inflammatory muscle disease?

Answer 19

polymyositis - T cells and CD8 cells

dermatomyositis - B cells and CD4 cells

Question 20

what is the treatment for inflammatory muscle diseases?

Answer 20

immunosuppression

Question 21

what type of muscle diseases are paramyotonic congenital and myotonia congenital and whats the difference between the two?

Answer 21

channelopathies
paramyotonia congenita is due to Na channels
myotonia congenital is due to Cl channels

Question 22

what is the pathophysiology of myasthenia gravis?

Answer 22

autoimmune disorders in which the body produces an antibody against the ACh receptors so no neurotransmitter is released
results in not being able to contract muscle

Question 23

what is the clinical presentation of myasthenia gravis?

Answer 23

fatiguable weakness which progresses as the day goes on;
in the limbs 
eyelids = ptosis 
talking
swallowing 
shortness of breath 
diplopia 
muscles of mastication

Question 24

what investigations are used to diagnose myasthenia gravis?

Answer 24

ACh receptor antibody
anti-MuSK antibody
assess neurophysiology by repetitive stimulation
CT chest - check for thymoma

Question 25

what is the treatment for myasthenia gravis?

Answer 25

symptomatic - acetylcholinesterase inhibitor immunosuppression immunoglobulin / plasma exchange thymectomy

Question 26

what drugs are given for immunosuppression to treat myasthenia gravis?

Answer 26

prednisolone & steroid saving agent

Question 27

what are some of the causes of generalised peripheral neuropathy?

Answer 27

``` hereditary vit B12 deficiency diabetes alcohol renal drugs infection: Lyme, leprosy paaneoplastic inflammatory demyelinating - Guillian Barre syndrome (acute) or chronic inflammatory ```

Question 28

what are the symptoms and signs of disease/damage of the nerve root?

Answer 28

myotomal wasting and weakness reflex change dermatomal sensory change

Question 29

what are the symptoms and signs if there is damage to an individual peripheral nerve?

Answer 29

wasting and weakness o innervated muscle | specific sensory change

Question 30

what are the symptoms and signs of generalised peripheral neuropathy such as Guillian Barre syndrome?

Answer 30

ascending paralysis with sensory involvement (motor & sensory) (this is because longest nerves are affected first)

Question 31

what investigations are carried out to diagnose disorders of peripheral nerves?

Answer 31

``` blood tests i.e. TFT, LFT, renal test B12 test genetic analysis nerve conduction tests lumbar puncture nerve biopsy (usually for determining extent of treatment) ```

Question 32

what is amyotrophic lateral sclerosis and what type of neurological disease is it?

Answer 32

amyotrophic lateral sclerosis means no muscle nutrition. | it is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord

Question 33

what part of the spinal cord is affected in amyotrophic lateral sclerosis and what effects does this have?

Answer 33

affects the anterior horn | therefor affects the motor neurones

Question 34

what is the presentation of someone with amyotrophic lateral sclerosis?

Answer 34

usually affects the limbs then blubber i.e. swallowing then respiratory there is a combination of UMN and LMN signs; LMN = fasciculations, wasting and weakness UMN = increased tone, brisk reflexes no sensory involvement

Question 35

how is motor neurone disease diagnosed?

Answer 35

combination of UMN and LMN signs | EMG

Question 36

what is the treatment for motor neurone disease?

Answer 36

supportive i.e. PEG feeding, non-invasive ventilation, OT, SALT, physiology, care Riluzole palliative care

Question 37

what is the prognosis for motor neurone disease?

Answer 37

3-5 yrs survival after symptom onset 2-3yrs after diagnosis 50% die within 14 months of diagnosis

Question 38

what is the treatment for gillian barre syndrome?

Answer 38

IV immunoglobulins