Muscle and nerve disease

Question 1

Presentation in a newborn of muscle problems

Answer 1

failure to thrive and problems sucking/feeding and can also be floppy

Question 2

Life threatening complications of muscle disease

Answer 2

aspiration and respiratory problems

Question 3

Presentation of muscle disease

Answer 3

atrophy of muscle, pain, reduced tone and reflexes, hypertrophy if not relaxing and overused muscles, cardiomyopathy, cramp, motor weakness

Question 4

What is elevated in muscular degeneration found in a blood test?

Answer 4

creatine kinase

Question 5

3 other investigations for muscle disease

Answer 5

electromyography

biopsy of muscle and genetic testing

Question 6

Give an example of a muscular dystrophy and what is the problem?

Answer 6

Duchenne

protein linked to myosin fibrils affected

Question 7

What are channelopathies?

Answer 7

problems with sodium, chlorine and calcium channels leading to episodic paralysis

Question 8

Give some examples of metabolic muscle disease

Answer 8

mitochondrial myopathies
disorders of lipid/carbohydrate metabolism
endocrinopathy eg thyroid

Question 9

What is polymyositis?

Answer 9

Affecting just muscle, widespread inflammation

Question 10

What is dermatomyositis?

Answer 10

muscle, skin affected
rash around knuckles and around eyes
characteristic of underlying malignancy

Question 11

Treatment of inflammatory muscle disease

Answer 11

high dose prolonged immunosuppression

Question 12

What is myasthenia gravis a disease of?

Answer 12

NMJ

Question 13

Symptoms of myasthenia gravis

Answer 13

fatiguable weakness - diplopia, ptosis, limb weakness, muscles of mastication, SOB and jaw

Question 14

Investigation of myasthenia gravis

Answer 14

AchR and Anti Musk antibodies
electrophysiology - jitter for fatigue
CT chest - thymoma

Question 15

Treatment for myasthenia gravis

Answer 15

immunosuppression
immunoglobulin/plasma exchange
thymectomy
Acetylcholinesterase inhibitor

Question 16

Lesion of individual peripheral nerve examples

Answer 16

vasculitis, compression

Question 17

Root disease example of peripheral nerves

Answer 17

inflammation, degeneration, spine disease and infiltration

Question 18

Generalised peripheral neuropathy causes

Answer 18

HIV, diabetes, alcohol, B12, renal, drugs, hereditary, malignant

Question 19

Nerve root signs

Answer 19

weakness, reflex and dermatome sensory change

Question 20

Individual nerve signs

Answer 20

muscle innervated atrophy

Question 21

Investigations of peripheral nerve disease

Answer 21

blood test eg LFT, blood glucose, B12

genetics, lumbar puncture - CSF proteins - nerve biopsy - sensory nerve

Question 22

What is the other name for amyotrophic lateral sclerosis?

Answer 22

motor neuron disease

Question 23

How do you diagnose MND?

Answer 23

LMN signs - fasiculations, weakness, wasting

UMN - hyperflexia, increase tone, spasticity

Question 24

Prognosis of MND

Answer 24

poor - 50% die in 14 months

Question 25

Death in MND is usually due to what?

Answer 25

respiratory failure

Question 26

How does the tongue appear in MND?

Answer 26

fasiculations and atrophy

Question 27

Treatment of MND

Answer 27

supportive - OT, physio, PEG, NIV

anti glutamate to prevent nerve damage and ovr stimulation