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Multiple Sclerosis (Clinical Presentation (Cerebellar symptoms e.g. ataxia…
Multiple Sclerosis
Clinical Presentation
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Brainstem dysfunction - diplopia, vertigo, facial numbness/weakness, dysarthria or dysphagia
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Spascitiy and weakness - can result in stiffness/tightness of muscles that can interfere with normal movement, speech and gait
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Unilateral optic neuritis - pain in one eye on eye movement, reduced central vision
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Symptoms may worsen with heat/exercise as new myelin is inefficient and doesn't perform well in heat - known as Uhthoff's phenomenon
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Treatment
Frequent relapse - SC interferon, disease modifying agents (monoclonal antibodies or dimethyl fumarate)
Symptomatic treatment - physiotherapy, baclofen, tizanidine, botox injection, intermittent self-catheterisation, anti-cholinergic alpha-blocker drugs
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Aetiology/Risk Factors
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Combination of genetic and environmental factors - Exposure to EBV, low levels of sunlight & vitamin D
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Pathophysiology
Once T lymphocytes cross the BBB they can cause a CASCADE of destruction to the neuronal cells in the brain
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Types of MS
Secondary progressive MS - follows on from relapsing & remitting MS, late stage of MS that consists of gradually worsening symptoms with fewer remissions
Primary progressive MS - gradually worsening disability WITHOUT relapses or remissions, typically presents later and is associated with fewer inflammatory changes on MRI
Relapsing and remitting - Most common pattern of MS - symptoms occur in attacks with onset over days, periods of good health & remission, patients may accumulate disability over time
Autoimmune mediated demyelination at multiple CNS sites resulting in discrete plaques of demyelination - affects WHITE MATTER of brain
Diagnosis
MRI brain & cord scan - DIAGNOSTIC (if history matches, may be periventricular lesions, discrete white matter abnormalities)
Lumbar puncture - CSF examination shows oligoclonal IgG bands, CSF cell count may be raised
Exclude differentials with FBC, inflammatory markers, U&E's, LFT's, glucose, HIV serology, auto-antibodies, Ca and vitamin B12
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Diagnosis requires TWO or more attacks affecting DIFFERENT PARTS of CNS; that is 2 CNS lesions disseminated in time and space
Key Facts
Chronic autoimmune, T-cell mediated inflammatory disorder of the CNS in which there are multiple plaques of demyelination within the brain and spinal cord, occuring sporadically over years
Disease of the CNS with oligodendrocytes targeted, NOT SCHWANN CELLS of the PNS - affects the WHITE MATTER of brain
Differential Diagnosis
Hereditary spastic paraplegia, cerebral variant of SLE, sarcoidosis or HIV