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Flashcards in Neuromuscular disease Deck (33):
1

What do we mean by neuromuscular disorders?

Conditions that affect the PNS (nerve roots etc), NMJ and muscle

2

key symptoms of neuromuscular disorders in general?

muscle weakness/wasting --> diplopia, dysphagia, dyspnoea
fatigue
stiffness
sensory loss/numbness
poor balance

3

what causes foot drop?

L5 radiculopathy/ peroneal neuropathy

4

ddx for diplopia and ptosis

myasthenia gravis
ocular nerve palsy (cranial nerve)
thyroid eye disease

5

is diplopia and ptosis a sign of motor neurone disease?

no

6

what is an example of anterior horn cell disease?

motor neuron disease

7

Does myasthenia graves and myopathies include a sensory dysfunction

no

8

what is a hallmark feature of neuropathies?

Sensory change and weakness tends to be distal. Some motor changes but later presentation.

9

definitive test for motor neurone disease

nerve conduction studies and EMG

10

what sort of signs do you see in motor neurone disease?

mixed picture of LMN and UMN signs- e.g. progressive weakness and muscle atrophy + fasiculations with hyper-reflexia.

Muscle wasting in tongue
Fasiculations
Tone increased or decreased
Generalised weakness
Reflexes preserved until late or exaggerrated
No sensory loss!!!
Cranial nerves may be affected

11

what is the most common motor neurone disease?

amyotrophic lateral sclerosis (ALS)

12

is ALS inherited?

not usually. 90% of cases are sporadic. 10% has a familial cause

13

Some Ix of neuromuscular disease in general?

a) electrophysiology
b) laboratory tests-blood tests, genetic tests etc
c) LP
d) muscle biopsy
e) nerve biopsy
f) MRI of nerve

14

Some examples of focal neuropathies

Carpal tunnel syndrome
Ulnar neuropathy
Diabetes (3rd nerve palsy)

15

what is the main cause of mono neuritis multiplex?

almost always ischaemia --> diabetes and vasculitis, although can be occasionally due to infection (CMV, leprosy)

16

What are some examples of demyelinating peripheral neuropathies

guillain- barre syndroem
lymphoma

17

What are some examples of axonal peripheral neuropathies?

vasculitis
thiamine deficiency
porphyria

18

Why would we do a LP for CSF analysis for neuromuscular disorder?

if you're thinking an autoimmune inflammatory cause

19

what does a trendelenberg gait indicate?

weakness of the gluteal muscles

20

what are some general causes of myopathies? Give some examples

1. Drugs- alcohol, statins, steroids
2. Endocrine- hypothyroidism, hypokalemia
3. Inflammatory- polymyositis, dermatomyositis, inclusion bodies
4. Inherited- various forms of dystrophies e.g. duchennes
5. Metabolic- McArdles, CPT (mitochondrial disorder)
6. ion channel mutations= periodic paralyses

21

what is a main ix for myopathies

CK levels!! if elevated, almost always indicate a myopathy

22

what are some other ix for myopathies?

electrophysiology and muscle biopsy

23

what is the pathophysiology of polymyositis?

inflammatory cell CD8 infiltrate and myophagia (phagocytes eat muscle)

24

what are some histological features that you see of Inclusion body myositis on muscle biopsy

1. mononuclear inflammatory infiltrate in interstitium
2. muscle fibre diameter variation
3. rimmed vacoules
4. deposition of amyloid

25

which, out of polymyositis or dermatomyositis do we more commonly associate with malignancy?

dermatomyositis

26

characterise the pathology of a dystrophy disease

muscle fibre degeneration, regeneration, fibrosis --> loss of function

27

what type of lymphocytes are associated with polymyositis and dermatomyositis respectively?

T and B lymphocytes respectivelt

28

3 types of metabolic myopathies?

1. lipid storage
2. glycogen storage
3. mitchondrial

29

what is the main pathology of guillain barre syndrome

inflammatory demyelination

30

what is the clinical presentation of GBS?

Clinical features include progressive muscle weakness, paraesthesia, slurred speech, breathing difficulties, hyporeflexia, diplopia, dysphagia, ptosis.

Usually the muscle weakness is symmetrical, and affects the lower limbs before the upper limbs.

31

What is an emergency associated with GBS?

respiratory muscle failure

32

what are the ix we order for GBS?

First line investigation= nerve conduction studies.

Also do a LP- and look for elevated CSF protein levels

Can also do spirometry and test for serology to recent infections

33

what is the treatment for GBS?

• Plasma exchange
• Intravenous immunoglobulin
• Analgesia
Other supportive therapy