Muscle and nerve disease Flashcards
Presentation in a newborn of muscle problems
failure to thrive and problems sucking/feeding and can also be floppy
Life threatening complications of muscle disease
aspiration and respiratory problems
Presentation of muscle disease
atrophy of muscle, pain, reduced tone and reflexes, hypertrophy if not relaxing and overused muscles, cardiomyopathy, cramp, motor weakness
What is elevated in muscular degeneration found in a blood test?
creatine kinase
3 other investigations for muscle disease
electromyography
biopsy of muscle and genetic testing
Give an example of a muscular dystrophy and what is the problem?
Duchenne
protein linked to myosin fibrils affected
What are channelopathies?
problems with sodium, chlorine and calcium channels leading to episodic paralysis
Give some examples of metabolic muscle disease
mitochondrial myopathies
disorders of lipid/carbohydrate metabolism
endocrinopathy eg thyroid
What is polymyositis?
Affecting just muscle, widespread inflammation
What is dermatomyositis?
muscle, skin affected
rash around knuckles and around eyes
characteristic of underlying malignancy
Treatment of inflammatory muscle disease
high dose prolonged immunosuppression
What is myasthenia gravis a disease of?
NMJ
Symptoms of myasthenia gravis
fatiguable weakness - diplopia, ptosis, limb weakness, muscles of mastication, SOB and jaw
Investigation of myasthenia gravis
AchR and Anti Musk antibodies
electrophysiology - jitter for fatigue
CT chest - thymoma
Treatment for myasthenia gravis
immunosuppression
immunoglobulin/plasma exchange
thymectomy
Acetylcholinesterase inhibitor
Lesion of individual peripheral nerve examples
vasculitis, compression
Root disease example of peripheral nerves
inflammation, degeneration, spine disease and infiltration
Generalised peripheral neuropathy causes
HIV, diabetes, alcohol, B12, renal, drugs, hereditary, malignant
Nerve root signs
weakness, reflex and dermatome sensory change
Individual nerve signs
muscle innervated atrophy
Investigations of peripheral nerve disease
blood test eg LFT, blood glucose, B12
genetics, lumbar puncture - CSF proteins - nerve biopsy - sensory nerve
What is the other name for amyotrophic lateral sclerosis?
motor neuron disease
How do you diagnose MND?
LMN signs - fasiculations, weakness, wasting
UMN - hyperflexia, increase tone, spasticity
Prognosis of MND
poor - 50% die in 14 months
Death in MND is usually due to what?
respiratory failure
How does the tongue appear in MND?
fasiculations and atrophy
Treatment of MND
supportive - OT, physio, PEG, NIV
anti glutamate to prevent nerve damage and ovr stimulation
