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muscle diseases Flashcards

1
Q

what are fasciculations

A

visible, fast, spontaneous twitches

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2
Q

when might fasciculations occur in healthy muscle

A

stress, caffeine, fatigue

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3
Q

what can fasciculations be a sign of

A

MND

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4
Q

why do fasciculations occur

A

denervated muscle becomes hyperexcitable

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5
Q

what is myotonia

A

failure of muscle to relax after use

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6
Q

how might patients describe myotonia

A

locking, sticking or cramping of the muscles

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7
Q

what is rhabdomyolysis

A

where skeletal muscle tissue breaks down and releases the products into the blood

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8
Q

what can cause rhabdomyolysis

A

prolonged immobility
extremely rigorous exercise
crush injuries
seizures
complications of acute renal failure and DIC

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9
Q

what are the 4 products of rhabdomyolysis that usually end up in the blood

A

myoglobin
potassium
phosphate
creatine kinase

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10
Q

what is the most immediately dangerous product of rhabdomyolysis and why

A

potassium
can cause hyperkalaemia - arrhythmias

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11
Q

triad associated with rhabdomyolysis

A

myalgia, muscle weakness and myoglobinuria

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12
Q

clinical presentation of rhabdomyolysis

A

muscle aches and pains, oedema, fatigue, confusion

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13
Q

clinical sign of rhabdomyolysis

A

red-brown urine

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14
Q

investigations in suspected rhabdomyolysis

A

bloods: CK, U+Es for AKI and hyperkalaemia
urine: myoglobinuria gives red colour, will be positive for blood
ECG

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15
Q

management of rhabdomyolysis

A

IV fluids

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16
Q

how is spinal muscular atrophy characterised

A

slowly progressive muscle weakness and atrophy of the limb muscles
+ motor neurone loss in the spinal cord

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17
Q

genetics associated with spinal muscular atrophy

A

autosomal recessive mutation of SMN1 gene

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18
Q

what is the most common type of spinal muscular atrophy

A

5q SMA

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19
Q

pathophysiology of spinal muscle atrophy

A

loss of anterior horn cells

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20
Q

symptoms of spinal muscular atrophy

A

muscle weakness and wasting : proximal skeletal muscles and respiratory muscles

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21
Q

clinical signs of spinal muscular atrophy

A

LOWER MOTOR NEURONE WEAKNESS

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22
Q

how can we identify lower motor neurone weakness

A

hypotonia, flaccid weakness, absent/reduced tendon reflexes, muscle fasciculation, muscle atrophy

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23
Q

what is the main investigation in spinal muscular atrophy

A

genetic testing

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24
Q

genetics associated with myotonic dystrophy

A

autosomal dominant inheritance
DMPK gene on chromosome 19

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25
when do patients usually present with myotonic dystrophy
in their 20s
26
facial features associated with myotonic dystrophy
frontal balding, long, thin face, bilateral ptosis, cataracts wasting of sternocleidomastoid muscles
27
internal features of myotonic dystrophy
insulin resistance, metabolic syndrome, cardiomyopathy, arrhythmias, testicular atrophy
28
hand features of myotonic dystrophy
distal muscle wasting and weakness, slow relaxing grip, percussion myotonia
29
what is percussion myotonia
thumb flexion on percussion of thenar eminence
30
investigation for myotonic dystrophy
genetic analysis raised CK
31
management of myotonic dystrophy
SUPPORTIVE cardiac screening, physio
32
genetic inheritance associated with duchennes and beckers muscular dystrophy
x-linked recessive
33
pathophysiology of duchennes and beckers
duchennes: absence of dystrophin beckers: low levels of dystrophin - progresses much slower
34
what is the role of dystrophin
essential for cell membrane stability
35
clinical sign associated with duchennes
gowers sign: using arms to compensate weakness in pelvic girdle when getting up off the floor
36
clinical presentation of muscular dystrophy
delay in motor development weakness of pelvic and shoulder girdles - onset 3-4yrs toe walking exaggerated lumbar lordosis calf hypertrophy
37
first line screening for muscular dystrophy
raised creatine kinase
38
gold standard for diagnosing duchennes and beckers muscular atrophy
genetic testing
39
what causes botulism
clostridium botulinum
40
where is clostridium botulinum found and where might it be picked up from
found in soil contaminated food, contamination of wounds, injection of contaminated street heroin
41
pathophysiology of botulism
clostridium botulinum is a potent exotoxin causes inhibition of presynaptic release of ACh leads to autonomic and motor paralysis
42
name some clinical uses of botulinum
IM to treat dystonia botox for wrinkles
43
clinical presentation of botulism
acute, afebrile descending paralysis
44
how is botulism detected
toxin in serum, urine, stool, vomit/gastric fluid
45
management of botulism
early use of antitoxin and treat respiratory failure
46
what is the most common disorder of the neuromuscular junction
myasthenia gravis
47
what is the cause of myasthenia gravis
autoimmune antibodies to ACh receptors
48
what is a commonality between many patients with myasthenia gravis
thymic hyperplasia / thymoma
49
what are the 2 groups of patients who usually present with myasthenia gravis
females in their 20s males in their 50-60s
50
pathophysiology of myasthenia gravis
auto-antibodies block ACh receptors on the end plate means inefficient ACh can bind to trigger muscle contraction -> muscle weakness
51
when do symptoms start in myasthenia gravis (in terms of receptors)
when ACh receptor action is reduced to 30% of normal
52
clinical presentation of myasthenia gravis
weakness of skeletal muscle - worse throughout the day and after exertion commonly present with extraocular weakness
53
clinical presentation of ocular myasthenia gravis
ptosis, diplopia, can't maintain up-gaze eye closure initially strong but fatigues after testing
54
investigations for myasthenia gravis
serum AChR antibodies CT chest for thymoma single fibre EMG
55
management of acute myasthenia gravis
ACh inhibitor - pyridostigmine IV immunoglobulin or plasma exchange
56
long term management of myasthenia gravis
steroids steroid sparing agents
57
name a steroid sparing agent
azathioprine
58
what drugs should be avoided as they precipitate myasthenia gravis
beta blockers gentamicin, macrolides lithium benzos
59
what is Lambert-Eaton syndrome associated with
small cell bronchial carcinoma
60
pathophysiology of Lambert-Eaton syndrome
antibodies disrupt presynaptic calcium channels after depolarisation calcium cannot enter neurone meaning less ACh can be released
61
clinical presentation of Lambert-Eaton syndrome
repeated muscle contractions leads to increased muscle strength limb-girdle weakness hyporeflexia autonomic symptoms: dry mouth, impotence, difficulty weeing
62
investigation for Lambert-Eaton syndrome
EMG
63
management of Lambert-Eaton syndrome
management of underlying cancer potassium channel blockers - 3,4-diaminopyridine immunosuppression for severe cases - prednisolone + azathioprine
64
who usually presents with inclusion body myositis
men over 50
65
characteristic presentation of inclusion body myositis
slow progressive weakness of distal muscles THUMB SPARING
66
antibodies associated with inclusion body myositis
anti-cN1A
67
management of inclusion body myositis
prednisolone
68
who usually presents with polymyositis
females 40-50
69
clinical presentation of polymyositis
symmetrical proximal muscle weakness in upper and lower extremities ILD, dysphagia, myocarditis, raynauds associated
70
3 clinical signs associated with dermatomyositis
gottrons sign - scaly patches over the knuckles and extensor surfaces of the knees and elbows shawl sign helitrope rash
71
bloods used to identify polymyositis
CK raised !!! inflammatory markers autoantibodies
72
autoantibodies associated with polymyositis and dermatomyositis
anti-jo-1, anti-SRP
73
what is a definitive test for polymyositis
muscle biopsy
74
first line management of polymyositis
prednisolone
75
second line managements for polymyositis
immunosuppression, IVIG, biological therapy

neurology (19 decks)

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