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Systems: Neurology AB > Muscle and Nerve Disease > Flashcards

Muscle and Nerve Disease Flashcards

1
Q

Muscle

A

An intricate machine designedd to convert chemical energy into mechanical energy

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2
Q

What are components of the process that sees muscles converting chemical energy to mechanical?

A
  • Excitation-contraction coupling
  • The contractile mechanism
  • Structural components
  • The energy system
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3
Q

What are symptoms of muscle disease?

A
  • Poor suck/ feeding/ failure to thrive/ floppy
  • Weakness of skeletal muscles
  • Short of breath
  • Poor swallow
  • Cardiomyopathy
  • Cramp/ pain/ myoglobinuria
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4
Q

What are the signs of muscle disease?

A
  • Wasting/ hypertrophy
  • Normal or reduce tone and reflexes
  • Motor weakness (not sensory)
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5
Q

What investigations are there for muscle disease?

A
  • History and examination
  • Creatinine kinase
  • EMG
  • Muscle biopsy (structure, biochemistry, inflammation)
  • Genetic testing
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6
Q

What are the classifications of muscle disease?

A
  • Muscular dystrophies
  • Channelopathies
  • Metabolic muscle disease
  • Inflammatory muscle disease
  • Congenital myopathies
  • Iatrogenic
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7
Q

What do muscular dystrophies affect?

A

The mechanics of the muscle and are usually genetic

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8
Q

Give examples of muscular dystrophies.

A
  • Duchenne’s MD
  • Becker’s MD
  • Facioscapulohumeral MD
  • Myotonic dystrophy
  • Limb-Girdle MD
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9
Q

What does facioscapulohumeral MD tend to present with?

A

Facial, scapula and bicep weakness

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10
Q

Who is normally affected by Duchenne’s MD?

A

Boys

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11
Q

What is abnormal in Duchenne’s MD?

A

Dystrophin

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12
Q

What are channelopathies disorders of?

A

Ca, Na and Cl channels

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13
Q

Give 4 examples of channelopathies.

A
  • Familial hypokalemic periodic paralysis
  • Hyperkalemic periodic paralysis
  • Paramyotonia congenital
  • Myotonia congeniita
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14
Q

What are metabolic muscle diseases?

A

Disorders of carbohydrate and/or lipid metabolism

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15
Q

Give examples of metabolic muscle diseases

A
  • Mitochondrial myopathies/cytopathies
  • Endocrinopathy (thyroid, Cushings)
  • Biochemical abnormalities
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16
Q

Give examples of inflammatory muscle diseases.

A
  • Polymyositis

- Dermatomyositis

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17
Q

What does polymyositis affect?

A

The muscles

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18
Q

What does dermatomyositis affect?

A

Muscle and skin

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19
Q

When can inflammatory muscle diseases occur?

A

At any age

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20
Q

Other than painful weak muscles, how can dermatomyositis present?

A

Characteristic rash

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21
Q

What do polymositis and dermatomyositis result in?

A

Painful weak muscles

22
Q

What is the treatment for inflammatory muscle disease?

A

Immunosuppression

23
Q

What investigations should be carried out for inflammatory muscle disease?

A

-Creatinine kinase (will be increased)
-EMG, inflammation and myopathic
Biopsy

24
Q

What will be found on muscle biopsy in polymyositis?

A

CD8 cells

25
Q

What will be found on muscle biopsy of dermatomyositis?

A

Humeral mediated B cells and CD4 cells

26
Q

Give an example of a disorder of the NMJ.

A

Myasthenia gravis

27
Q

What is the clinical presentation of myasthenia gravis?

A

Fatiguable weakness of:

  • Limbs
  • Eyelids
  • Muscles of mastication (chewing) and swallow
  • Talking
  • SOB
  • Diplopia
28
Q

What are the investigations for myasthenia gravis?

A
  • AChR ab
  • Anti MuSK ab
  • Neurophysiology (repetitive stimulation and jitter)
  • CT chest (thymoma)
29
Q

What symptomatic treatment for myasthenia gravis is there?

A

Acetylcholinesterase inhibitor

30
Q

What immunosuppression treatment is there for myasthenia gravis?

A
  • Prednisolone

- Steroid saving agent azathioprine

31
Q

When is immunoglobulin/plasma exchange used as treatment in myasthenia gravis?

A

In critically ill patients who are struggling to breath. It is a temporary measure

32
Q

What surgical procedure is often performed on those with myasthenia gravis?

A

Thymectomy

33
Q

What do peripheral nerves consist of?

A
  • Sensory axons

- Motor axons

34
Q

What do small sensory fibres carry?

A

Pain and temperature

35
Q

What do large sensory fibres carry?

A

Joint position sense and vibration

36
Q

Give examples of nerve root diseases.

A
  • Degenerative spine disease
  • Inflammation
  • Infiltration
37
Q

What are the types of lesions of individual peripheral nerves?

A
  • Compressive/ entrapment neuropathy

- Vasculitic (mononeuritis multiplex)

38
Q

How can generalised peripheral neuropathy present?

A
  • Motor/ sensory or both

- +/- autonomic features

39
Q

What are the causes of generalised peripheral neuropathy?

A
  • Metabolic: diabetes, alcohol, renal failure, B12
  • Toxic: drugs
  • Hereditary
  • Infectious: Lyme, HIV, leprosy
  • Malignancy: paraneoplastic
  • Inflammatory demylineating
40
Q

What is an examples of an acute inflammatory demyelinating condition?

A

Guillain Barre syndrome

41
Q

What is an examples of a chronic inflammatory demyelinating condition?

A

Chronic inflammatory demyelinating polyneuropathy

42
Q

What are the signs and symptoms of nerve root disease?

A
  • Myotomal wasting and weakness
  • Reflex change
  • Dermatomal sensory change
43
Q

What are the signs and symptoms of individual nerve disease?

A
  • Wasting and weakness of innervated muscle

- Specific sensory change

44
Q

What are the signs and symptoms of generalised peripheral neuropathy?

A

Sensory and motor symptoms starting distally and moving proximally

45
Q

What investigations should be carried out for nerve disease?

A
  • Blood tests
  • Genetic analysis
  • Nerve conduction studies
  • Lumbar puncture with CSF analysis
  • Nerve biopsy (nb sensory nerve)
46
Q

How does ALS progress?

A
  • Usually limb onset

- Later bulbar and respiratory involvement

47
Q

What LMN signs are there in ALS?

A
  • Muscle fasciculations
  • Wasting
  • Weakness
48
Q

What UMN signs are there in ALS?

A
  • Increased tone

- Brisk reflexes

49
Q

What is the prognosis for ALS?

A
  • 3-5 years from symptom onset
  • 2-3 years from diagnosis
  • 50% will die within 14 months of diagnosis
50
Q

How is a diagnosis of motor neurone disease made?

A
  • Unique combination of UMN and LMN signs

- EMG

51
Q

What is the treatment for motor neurone disease?

A
  • Supportive (PEG, NIV, physio, OT, care)

- Riluzole

Systems: Neurology AB (51 decks)

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