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Nervous System > Muscle and Nerve Diseases > Flashcards

Muscle and Nerve Diseases Flashcards

1
Q

What energies do muscles convert?

A

Chemical energy into mechanical energy

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2
Q

What are some components required for a muscle to convert chemical energy into physical energy?

A

Structural components

Contractile mechanism

Excitation-contraction coupling (ion channels)

Energy system

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3
Q

What are some symptoms of muscle disease?

A

Weakness of skeletal muscles

Shortness of breath if respiratory muscles

Poor swallow/aspiration if bulbar muscles

Cardiomyopathy

Cramp

Pain

Stiffness

Myoglobinuria

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4
Q

What are signs of muscle disease?

A

Wasting/hypertrophy

Normal or reduced tone and reflexes

Motor weakness, no sensory reflex

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5
Q

What investigations are done for muscle disease?

A

History and examination

Creatine kinase (CK)

EMG

Muscle biopsy (structure, biochemistry, inflammation)

Genetic testing

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6
Q

What are the different categories of congenital/genetic muscle diseases?

A

Structural (muscular dystrophies)

Contractile (congenital myopathies)

Coupling (channelopathies)

Energy (enzymes/mitochrondia)

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7
Q

What are the different classifications of acquired muscles diseases?

A

Metabolic (Ca, K)

Endocrine (thyroid, adrenal, vitamin D)

Inflammatory muscle disease

Iatrogenic (medication such as steroids or statins)

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8
Q

Is CK often high or low in muscular dystrophies?

A

High due to cell degeneration

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9
Q

What are examples of mucular dystrophies?

A

Duchenne’s/Becker’s (dystrophin)

Fascioscapulohumeral/oculopharyngeal/limb girdle

Myotonic dystrophy (cataracts)

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10
Q

Are there any specific treatments for muscular dystrophies yet?

A

No

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11
Q

What are channelopathies?

A

Disorders of Ca, Na, K and Cl channels

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12
Q

What are common symptoms of channelopathies?

A

Paroxysmal symptoms such as periodic paralysis/myotonia

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13
Q

What is myotonia?

A

Inability to relax voluntary muscles after vigorous effort

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14
Q

What are energy production muscle disorders also known as?

A

Metabolic myopathy

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15
Q

What is are metabolic myopathy disorders induced by?

A

Exercise induced

Early are disorders of carbohydrate metabolism

Late are disorders of lipid metabolism

Mitochondrial problems

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16
Q

What are inflammatory muscle diseases also called?

A

Inflammatory myopathies

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17
Q

What are examples of inflammatory myopathies?

A

Polymyositis

Dermatomyositis (DM)

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18
Q

What is the clinical presentation of inflammatory myopathies?

A

Painful, weak muscles

Characteristic rash of DM

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19
Q

What is seen in blood tests for inflammatory myopathies?

A

High CK

Autoantibodies

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20
Q

What investigations are done for inflammatory myopathies?

A

EMG

Biopsy

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21
Q

How does the biopsy for polymyositis and dermatomyositis differ?

A

Polymyositis shows CD8 cells

Dermatomyositis shows humeral-mediated, B cells and and CD4 cells

22
Q

What is the treatment for inflammatory myopathies?

A

Immunosuppression

23
Q

What is an example of a disorder of the neuromuscular junction?

A

Myasthenia gravis

24
Q

What is the clinical presentation of myasthenia gravis?

A

Fatiguable weakness:

Ptosis

Diplopia

Limb weakness

Bulbar weakness (chew, swallow, talk)

Breathing weakness

25
Q

What investigations are done for myasthenia gravis?

A

Blood test (AChR, anti MuSK antibodies)

Neurophysiology (repetative stimulation, jitter)

CT chest (thymoma)

26
Q

What is the treatment for myasthenia gravis?

A

Symptomatic treatment - acetycholinesterase inhibitory (pyridostigmine)

Immunosuppresion - prednisolone, steroid saving agent (such as azathioprine)

Thymectomy (operation to remove thymus)

27
Q

What is the operation to remove the thymus called?

A

Thymectomy

28
Q

What does the term “peripheral nerves” consist of?

A

Sensory axons (small fibre (pain and temperature) and large fibre (joint position sense and vibration))

Motor axons

Autonomic axons

Nerve sheath (myelin)

29
Q

What are examples of diseases of peripheral nerves?

A

Root disease

Lesion of individual peripheral nerve

Generalised peripheral neuropathy

30
Q

What is the clinical presentation of root disease?

A

Myotomal wasting and weakness

Reflex change

Dermatomal sensory change

31
Q

What do lesions of individual peripheral nerves cause?

A

Compressive/entraopment neuropathy

Vasculitis

32
Q

What is the clinical presentation of lesions of individual peripheral nerves?

A

Wasting and weakness of innervated muscle

Specific sensory change

33
Q

What are the 2 different kinds of peripheral neuropathy?

A

Axonal loss or demyelination

34
Q

What are some causes of peripheral neuropathy?

A

Genetic

Metabolic (diabetes, alcohol, renal failure, B12)

Toxic (drugs)

Infectious (lyme, HIV, leprosy)

Malignancy (demyelinating)

Inflammatory demyelinating (acute is Guillain Barre syndrome, chronic is chronic inflammatory demyelinating polyneuropathy)

35
Q

What is acute peripheral neuropathy due to inflammation called?

A

Guillain Barre syndrome

36
Q

What is chronic peripheral neuropathy due to inflammation called?

A

Inflammatory demyelinating polyneuropathy

37
Q

What is the clinical presentation of peripheral neuropathy?

A

Sensory and motor symptoms

Usuallt starting distally and moving proximally

38
Q

What investigations are done for nerve disease?

A

Blood tests

Genetic analysis

Nerve conduction studies

Lumbar puncture (CSF analysis)

Nerve biopsy

39
Q

What is the general treatment for nerve diseases?

A

Treat the cause (such as stop drug, surgery, immunoglob)

40
Q

What is an example of a disorder of anterior horn cell?

A

Motor neuron disease (MND)

41
Q

What does MND stand for?

A

Motor neuron disease

42
Q

What is motor neuron disease also known as?

A

Amyotrophic lateral sclerosis (ALS)

43
Q

What does ALS stand for?

A

Amyotrophic lateral sclerosis

44
Q

What does MND usually first affect?

A

Limb, then bulbar muscles, then respiratory

45
Q

Does MND show UMN or LMN signs?

A

Combination of both UMN and LMN signs

46
Q

What are some LMN signs of MND?

A

Muscle fasciculations, wasting and weakness

47
Q

What are some UMN signs of MND?

A

Increased tone, brisk reflexes

48
Q

Does motor neuron disease have any sensory involvement?

A

No sensory involvement

49
Q

Other than physical symptoms, what else can MND cause?

A

10% have cognitive decline

50
Q

What is the prognosis of MND?

A

Median 3-5 years from symptom onset, 2-3 years from diagnosis

50% die within 14 months of diagnosis

51
Q

How is MND diagnosied?

A

Unique combination of UMN and LMN signs with no sensory signs

EMG

52
Q

What is the treatment for MND?

A

Supportive (PEG feed, non-invasive ventilation, physio, OT, SALT, care)

Riluzole

Anticipatory/palliative care

Nervous System (48 decks)

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