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Neuro > Muscle and Nerve diseases > Flashcards

Muscle and Nerve diseases Flashcards

1
Q

What causes muscular dystrophy?

A

A faulty protein - one of the structural proteins that connect the muscle to something else isn’t working properly

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2
Q

Give five types of muscular dystrophies

A 
Duchenne's MD
Becker's MD
Facioscapulohumeral MD
Myotonic dystrophy
Limb-girdle MD
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3
Q

What is the most common type of muscular dystrophy? Describe the genotype that causes this disease

A

Myotonic dystrophy:
Triplet-repeat problem in the gene, causes the gene to dysfunction - the longer the repeat, the more unstable it is. This means that the disease gets worse with each generation

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4
Q

Which ion channels are involved in muscle contraction and relaxation?

A

Calcium ion
Sodium ion
Chloride ion

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5
Q

Give four types of channelopathy

A

Familial hypokalemic periodic paralysis
Hyperkalemic periodic paralysis
Paramyotonia congenita
Myotonia congenita

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6
Q

How do inflammatory muscle diseases usually present?

A

Patient presents being perfectly normal beforehand with relatively sudden onset weakness and sore muscles
Characteristic rash (dermatomyositis)
Can affect any age group

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7
Q

How are inflammatory muscle diseases tested for?

A

Test blood for raised creatine kinase (CK)

Biopsy

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8
Q

Name a disease that affects the neuromuscular junction

A

Myasthenia Gravis

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9
Q

Describe the pathophysiology of Myasthenia Gravis

A

Antibodies block acetylcholine receptors

This causes muscles to fatigue very quickly as they cannot sustain contraction

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10
Q

Which parts of the body can be affected by Myasthenia Gravis?

A 
Limbs
Eyelids (causes ptosis)
Muscles of mastication
 - also affects talking
Respiratory muscles (causes SOB)
Eye muscles (causes diplopia)
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11
Q

How would Myasthenia Gravis be diagnosed? What investigations would be carried out?

A

Blood test to look for AchR antibody (present in 70%)
Test for anti-MuSK antibody
Investigate neurophysiology
- Repetitive stimulation (action potential gets smaller and smaller as it progresses along the nerve)
- EMG
Tensilon test

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12
Q

How is Myasthenia Gravis treated?

A 
Symptomatic treatment
 - acetylcholinesterase inhibitor
Immunosuppression 
 - prednisolone
 - steroid-saving agent (azathioprine)
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13
Q

Give three causes of nerve root disease

A

Degenerative spine disease e.g. arthritis
Inflammation
Infiltration e.g. herpes

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14
Q

Give two classifications of individual peripheral nerve lesions

A

Compressive/entrapment neuropathy

Vasculitis

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15
Q

What is generalised peripheral neuropathy?

A

Dying of the peripheral nerves; begins distally, moves proximally
Can be motor, sensory or both
May have associated autonomic features

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16
Q

List some potential causes of generalised peripheral neuropathy

A 
Metabolic: diabetes, alcohol, B12
Toxic: drugs
Hereditary
Infectious: lyme, HIV, leprosy
Malignancy
Inflammatory demyelinating disease (usually follows an acute illness such as a viral infection, e.g. guillain-barre syndrome)
17
Q

Describe the presentation of nerve root disease

A

Myotomal wasting and weakness
Reflex changes
Dermatological sensory changes

18
Q

Describe the presentation of disease which affects individual nerves

A

Wasting and weakness of innervated muscle

Specific sensory change

19
Q

What type of motor neurone disease affects both upper and lower motor neurones?

A

Amyotropic Lateral Sclerosis (ALS)

20
Q

Describe the presentation of Amyotropic Lateral Sclerosis

A

Usually limb onset, later includes bulbar and respiratory involvement
Combinations of UMN and LMN signs
Progressive bulbar palsy
No sensory involvement
Electromyography (EMG) results aid diagnosis

21
Q

How is Amyotropic Lateral Sclerosis treated?

A

Supportive - PEG tube, NIV

Riluzole (slows disease progression)

22
Q

What is the prognosis for ALS?

A

50% will die within 14 months of symptom onset.

Riluzole can increase a patient’s life expectancy by up to six months.

23
Q

What is multiple sclerosis?

A

A disease of the white matter, predominantly demyelination due to inflammation of the myelin sheath
Relapsing-remitting course of disease
Most patients develop progressive disability

24
Q

What is meant by a “relapse” in multiple sclerosis?

A

Focal disturbance of function

25
Q

Describe the process of demyelination in MS

A

Auto-immune process
Activated T-cells cross the blood brain barrier, causeing demyelination
There is also acute inflammation of the myelin sheath
This causes a loss of function

26
Q

What is meant by “Post-inflammatory gliosis” in MS?

A

Scarring left by inflammation causes a functional deficit

THis can be seen as lesions or plaques on an MRI scan

27
Q

What causes disability in MS? How can this be tested for?

A

Axonal loss - areas of axonal loss can be seen on MRI as black holes

28
Q

What environmental factors are thought to be linked to MS?

A

Temperate climate
Epstein-Barr virus
Vitamin D deficiency

29
Q

How does MS present?

A

Usually presents with a relapse
Gradual onset over days, then stablises within a few days or a week
Gradual resolution to complete or partial recovery

30
Q

What are the effects of brainstem relapses in MS?

A

Loss of cranial nerve function; vertigo, nustagmus, ataxia

31
Q

Describe the signs/symptoms present in the progressive phase of MS?

A 
Fatigue
Temperature sensitivity
Sensory loss
Balance problems
Slurred speech
Swallowing problems
Bladder and bowel problems
Diplopia/oscillopsia/visual loss
Cognitive dementia
Emotional disturbance
32
Q

What type of imaging is most useful in aiding diagnosis of MS?

A

MRI scanning

33
Q

Which investigations can be used to aid diagnosis of MS?

A

MRI scan
Lumbar puncture (look for oligoclonal bands and other signs of inflammation present in CSF but not serum)
Visual/somatosensory evoked response
Bloods (to exclude other inflammatory conditions)
Chest x-ray

34
Q

Describe the differential diagnosis of MS

A 
Depends on the patient!
Acute disseminated encephalomyelitis
Other autoimmune conditions
Sarcoidosis
Vasculitis
Infections e.g. lyme disease, HTLV-1
Adrenoleucodystrophy
Others!
35
Q

Give four types of MS (classified based on patterns of impairment)

A

Relapsing-remitting
Secondary progressive
Sensory MS
Primary progressive (faster progression, no relapses)

36
Q

Which patients are suitable for disease-modifying treatment of MS?

A

Those with frequent relapses - drugs have lots of side effects so are avoided as much as possible

37
Q

What are the potential side effects of disease-modifying MS drugs?

A

Flu-like symptoms
Injection-site reaction
Abnormalities of blood count
Abnormal liver function

38
Q

Give five first line disease-modifying MS drugs

A 
Less aggressive (daily or weekly injections):
 - beta-interferons
 - glatiramer acetate
More aggressive: 
 - oral treatments
 - teriflunomide
 - dimethyl fumarate
39
Q

How are acute relapses of MS treated?

A

Oral prednisolone
Symptomatic treatment (depending on nature or relapse/site of inflammation etc)
Look for an underlying infection

Neuro (18 decks)

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