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Neurology System > Muscle and Nerve Disease > Flashcards

Muscle and Nerve Disease Flashcards

1
Q

Where do UMN originate?

A

In the cortex

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2
Q

Where do UMN synapse with LMN?

A

At the anterior horn cell

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3
Q

Where do LMN terminate?

A

At the muscles

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4
Q

What are the symptoms on muscle disease presentation?

A 
Weakness of skeletal muscle 
Shortness of breath 
Poor swallowing 
Cardiomyopathy 
Cramp 
Pain 
Poor suckling/feeding in babies 
Myoglobiruria (darkened urine)
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5
Q

What is myoglobinuria?

A

Darkened urine

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6
Q

What are the clinical signs of muscle and nerve disease?

A 
Wasting 
Hypertrophy 
Normal or reduced tone and reflexes 
Motor weakness 
Not sensory
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7
Q

What investigations are reuqired for muscle and nerve disease?

A 
history and examination 
CK 
EMG 
Muscle biopsy 
Genetic testing
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8
Q

Why is genetic testing so important in muscle and nerve disease?

A

Because so many of these disease are genetic so testing is important

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9
Q

What are the classifications of muscle and nerve disease?

A 
Muscular dystrophies 
Channelopathies 
Inflammatory muscle disease
Congenital myopathies 
Iatrogenic (alot of medication now used degenerate and affect the muscle)
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10
Q

Name 3 muscular dystrophies

A

Duchenne’s MD
Becker’s MD
Myotonic dystrophy

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11
Q

What is the commonest muscular dystrophy?

A

Duchenne’s MD

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12
Q

Is Duchenne’s MD more common in males or females?

A

Males

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13
Q

What is Becker’s MD?

A

A milder form of Duchenne’s MS

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14
Q

What are channelopathies?

A

Disorders of calcium

Sodium and chloride channels

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15
Q

What are some channelopathie diseases?

A

Familial hypokalemic periodic paralysis
Hyperkalemic periodic paralysis
Paramyotonia congeintal

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16
Q

What is the commonest channelopathie?

A

Familial hypokalemic periodic analysis

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17
Q

What is duchenne’s MD?

A

Genetic disorder characterised by progressive muscle degeneration and weakness

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18
Q

What causes duchenne’s MD?

A

Absence of dystrophin

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19
Q

What is the prognosis for duchenne’s MD?

A

Tends to be short survival rates

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20
Q

What are some typical appearances of duchenne’s MD?

A

Very big calves

Associated with hypertrophy of the muscle

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21
Q

What are symptoms experienced with facioscapulohumeral MD?

A

Facial weakness
Scapula weakness
Bicep weakness

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22
Q

What is the commonest channelopathie?

A

Familial hyopkalemic periodic paralysis

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23
Q

How does Familial hypokalemic periodic paralysis often present?

A

With intermittent symptoms of paralysis and muscle weakness

24
Q

What is the key investigation during a familial hypokalemic periodic paralysis attack?

A

Measure potassium levels

25
Q

What causes hyperkalemic periodic paralysis?

A

High potassium in the blood

26
Q

What causes paramyotonia congenital?

A

Defects in calcium channels and release leading to a sustained depolarisation of muscles

27
Q

What are the signs of paramyotonia congenital?

A

Can’t relax muscles
Feel stiff
Especially bad after excercise or cold temperature

28
Q

What metabolic problems can affect muscles?

A

Disorders of carbohydrate metabolism
Disorders of lipid metabolism
Endocrinopathy
Biochemical abnormalities

29
Q

What inflammatory conditions can affect muslces?

A

Polymyositis

Dematomyositis

30
Q

What is polymyositis?

A

Inflammation and degeneration of skeletal muscle throughout the body

31
Q

What investigations need to be done for inflammatory muscle diseases?

A 
Creatine kinase 
EMG 
Inflammation
Ð	PM: CD8 cells
Ð	DM: humeral-mediated, B cells and CD4 cells
Biopsy
32
Q

What is the treatment for inflammatory muscle disease?

A

Immunosuppression

33
Q

What does myasthenia gravis affect?

A

Skeletal muscle only

34
Q

What is the clinical presentation of myasthenia gravis?

A 
Fatiguable weakness 
Start of fine then progress to become a lot weaker 
- limbs 
- eyelids 
- muscles of 
  mastication 
- talking (slurred speech)
- SOB 
- Diplopia
35
Q

What are the investigations for myasthenia gravis?

A 
AChR ab 
- antibody that block Ach getting onto its receptor 
Anti MuSK ab 
Neurophyioslogy
CT chest (thoma)
36
Q

What is the treatment for myasthenia gravis?

A

Acetylcholinerterase inhibitor
Immunosuppresion
Thymectomy
Immunoglobulin

37
Q

What causes myasthenia gravis?

A

Lack of Ach at the neuromuscular junction

38
Q

How is myasthenia gravis linked to the thymus in the young?

A

Associated with thymic hyperplasia

39
Q

How is myasthenia gravis linked to the thymus in the older?

A

May be associated with malignant thymoma

40
Q

What are classifications of nerve disease?

A

Root disease
Lesion of individual peripheral nerve
Generalised peripheral neuropathy

41
Q

What can cause root disease?

A

Ð Degenerative spine disease
Ð Inflammation
Ð Infiltration

42
Q

Give a common disease of the neuromuscular junction?

A

Myasthenia Gravis

43
Q

What can cause a lesion of a peripheral nerve?

A

Compressive/entrapment neuropathy

Vasculitic

44
Q

What can cause generalised peripheral neuropathy?

A 
DM 
Alcohol 
Chronic renal failure 
B12 deficiency 
Hereditary 
Malignancy 
Inflammatory demyelinating 
Infection
45
Q

What is the commonest cause of peripheral neuropathy?

A

DM

46
Q

What are the signs and symptoms of nerve root disease?

A

Ð Myotomal wasting and weakness
Ð Reflex change
Ð Dermatomal sensory change

47
Q

What are the signs and symptoms of individual nerve disease?

A

Wasting and weakness of innervated muscle

Specific sensory changes

48
Q

What is a signs of generalised peripheral neuropathy?

A

Sensory and motor symptoms starting distally and moving more proximally

49
Q

What investigations need to be done for nerve diseases?

A 
Blood tests
Genetic analysis
-	Clear family history??
NCS (nerve conduction study)
Lumbar puncture (CSF analysis)
50
Q

Why would you not biopsy a nerve?

A

Because would generate weakness in the muscle it was supplying

51
Q

Name a disease of the anterior horn cell?

A

Motor neuron disease

52
Q

What are signs and symptoms of motor neuron disease?

A

Increased tone and brisk reflexes
LMN signs
No sensory involvement
Usually limb onset, later bulbar and respiratory involvement

53
Q

What is the prognosis for MND?

A

3-5 years from symptom onset

2-3 years from diagnosis

54
Q

What is the usual cause of death in MND?

A

Respiratory failure

55
Q

What is the treatment for MND/

A

Supportive (MDT)
Usually patient does not want ventilation
Riluzole

Neurology System (35 decks)

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