muscle and nerve diseases Flashcards

1
Q

what are some common symptoms associated with muscle disease?

A
weakness of skeletal muscle
short of breath
cardiomyopathy
myoglobinnuria
cramp/pain
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2
Q

what are some common signs of muscular disease?

A

wasting/hypertrophy
reduced tone or reflexes
motor weakness but not sensory

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3
Q

what investigations are important in suspected muscle disease?

A

creatine kinase
electromyography
muscle biopsy
genetic testing

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4
Q

what are 5 different types of muscular dystrophy?

A
duchennes
beckers
facioscapulohumeral
myotonic dystrophy
limb girdle
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5
Q

what are channelopathies?

A

disorders of calcium, sodium and chlorine channels

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6
Q

whar are 4 different kinds of channelopathies?

A

familial hypokalemic periodic paralysis
hyperkalemic periodic paralysis
paramyotonia congenita
myotonia congenita

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7
Q

what processes are responsible for metabolic muscle disease?

A

disorders of carbohydrate metabolism
disorders of lipid metabolism
mitochondrial myopathies/cytopathies

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8
Q

what are 2 inflammatory muscle diseases?

A

polymyositis

dermatomyositis

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9
Q

what are some symptoms of IMD?

A

painful weak muscles

DM has a characteristic rash

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10
Q

what investigations are used to diagnose IMD?

A

creatine kinase increase
EMG - inflammation and myopathic
muscle biopsy

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11
Q

what would be found on a muscle biopsy of a patient who has polymyositis?

A

CD8 cells

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12
Q

what would be found on a muscle biopsy of a patient who has dermatomyositis?

A

B cells and CD4 cells

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13
Q

what is the treatment for inflammatory muscle disease?

A

immunosuppression

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14
Q

what is the clinical presentation of myasthenia gravis?

A
fatiguable weakness
ptosis
weakness after chewing and talking
diplopia
limb weakness
SOB
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15
Q

what investigations are performed to help diagnose myasthenia gravis?

A
acetylcholine receptor (AChR) antibody test
anti MuSK antibody test
reptitive stimulation
EMG
tensilon test
CT chest
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16
Q

how is myasthenia gravis treated?

A

acetylcholinesterase inhibitor to relieve symptoms

prednisolone and steroid saving agents for immunosuppression

17
Q

what disorder of the thymus is associated with myasthenia gravis in young patients?

A

thymic hyperplasia

18
Q

what disorder of the thymus is associated with older myasthenia gravis patients?

A

malignant thymoma

19
Q

when would a thymectomy be an appropriate treatment option?

A

females younger than 40

malignant thymoma

20
Q

what are some diseases of spinal nerve roots?

A

degenerative spine disease
inflammation
infiltration

21
Q

what are some lesions of individual peripheral nerves?

A

compressive/entrapment neuropathy

vasculitic (mononeuritis multiplex)

22
Q

what sensations can generalised peripheral neuropathy affect?

A

motor, sensory or both

23
Q

what are some metabolic causes of generalised peripheral neuropathy?

A

alcohol
b12 deficiency
DM

24
Q

what are some toxic causes of generalised peripheral neuropathy?

A

drugs

25
Q

what are some infectious causes of generalised peripheral neuropathy?

A

lymes disease
HIV
leprosy

26
Q

what are some malignant causes of generalised peripheral neuropathy?

A

paraneoplastic syndrome

27
Q

what are some inflammatory demyelinating causes of generalised peripheral neuropathy?

A
acute = guillain barre syndrome
chronic = CIDP
28
Q

what are some signs of nerve root disease?

A

myotomal wasting and weakness
reflex change
dermatomal sensory change

29
Q

what are some signs of individual nerve disease?

A

wasting and weakness of innervated muscle

specific sensory change

30
Q

what are some symptoms of generalised peripheral neuropathy?

A

sensory AND motor symptoms starting distally and moving proximally

31
Q

what investigations are important in diagnosing nerve diseases?

A
blood tests
genetic analysis
Lumbar puncture
nerve biopsy
NCS (nerve conduction studies)
32
Q

what are some signs of motor neuron disease?

A

LMN = muscle fasciculations, wasting, weakness
UMN = increased tone, brisk reflexes
no sensory involvement

33
Q

how is MND diagnosed?

A

unique combination of UMN and LMN signs

EMG