Clinical: Neurodegenerative and demyelination Disorders Flashcards
Alzheimer’s disease
most common form of dementia
Affects people usually over the age of 70 and women/men equally.
Risk factors
- obesity/fat diet
- HTN
- previous stroke and vascular disease
- smoking
- diabetes
- genetics (strong link)
Clinical presentation of early vs late Alzheimer’s
Early:
- mild cognitive impairment
- depression
- mild decline in executive functions
- aphasia
- acalculia
- anemia
- anosognosia
- apraxia
Late:
- agitation and aggression
- marche a petit pas (short choppy steps that look like marching)
- very irregular sleeping patterns
- presence of primitive reflexes
Nonpharmacologic treatments for Alzheimer’s
Patient and caregiver education
Sleep hygiene
Low stimulus environment for the patient
Exercise and music therapies
Secondary prevention of vascular damage
Address legal/financial matters (before late state)
Vascular dementia
second most common dementia
Sequela produced after a stroke or CAA
Risk factors:
- HTN
- strokes
- being old
- diagnosis of CAA
Clincial presentation
- step wise with abrupt onset of cognaitive issues (after vascular event)
- imparted attention and executive function
- usually less memory issues (big difference from Alzheimer’s
Treatment:
- prevent further vascular events occurring
Frontotempotal dementia (picks disease)
Pick bodies form in the frontotemporal lobe of patients in 50-60 yrs old
Risk factors:
- genetic component
- family history
Has three variants
1) behavioral variant (frontal lobe mostly)
* most common form*
- shows altered interpersonal interactions via inability for disinhibition
- has no insight
- modest cognitive defects
2) semantic variant (temporal lobe mostly)
3) non fluent/agrammatic variant (both frontal and temporal lobe)
almost no memory defects
Treatment:
- treat symptoms as they arise
- Alzheimer’s drugs DONT WORK
Lewy body dementia
very heavily linked with Parkinson’s disease and genetics
Usually arises in patients 50-85 yrs
Clinical presentation:
- dementia within 1 year of Parkinsonism features (this is way faster than normal Parkinson’s)
- visual hallucinations
- postural hypotension and syncope
- delusions
Treatment:
- ACh inhibitors
- symptomatic treatment
- DONT use only L-DOPA (makes psychiatric issues worse)
- DONT use only antipsychotics (makes motor dysfunctions worse)
Creutzfeldt-Jacob disease (CJD)
Almost always sporadic and usually in patients 55-75 yrs
- causes is usually idiopathic
Clinical features:
- memory loss (severe and always present)
- myoclonus (especially startle variants)
- abnormal EEG complexes (shark waves appear periodically)
- cerebellar ataxia
- pyramidal signs
- CSF shows protein elevation
- is acute and progresses very fast (opposite of Alzheimer’s)
Treatment = N/A
- biopsy confirms it and patients die within 1 year
ALS (Lou gerigs)
Usually 30-60 yrs old
- 90% of cases are idiopathic
- 10% is genetic (mutations in SOD1 gene)
Pathophysiology
- chronic enervation and demyelination of lateral column fibers
- also renervates while denervating
Clinical presentations:
- mix of UMN and LMN signs
- bulbar muscle weakness if also present
- no sensory loss, bladder or bowel loss and cognitive loss*
- tongue fasciculations
- behavioral alterations
- pseudobulbar affects (similar to the joker apperance, laughs inappropriately and cries inappropriately)
- usually asymmetrically starts and then progresses symmetrically
Treatment: (must rule out everything else first (diagnosis of exclusion))
- Edaravone
- Riluzole
- symptomatic measures
- multidisciplinary therapies
- not curable, only prolong survival*
SMA (Wernidig-Hoffman syndrome)
Is pediatric muscle atrophy disease
- 3 different subtypes depending on age
1) = infants-3 months - low muscle tone with difficulties in eating/breastfeeding/breathing
2) = 3 - 12 months - bulbar and extremty weakness, scoliosis, contractures
3) = 12 months - 6 years - proximal muscle weakness
- often confused with duchenne muscle dystrophy or limb hurdle dystrophy*
Destroys anterior horn neurons and cell bodies
- is genetic (autosomal recessive mutation in SMN1 gene)
- no sensation loss
Treatment
- nusinersen (interthecally)
Transverse myelitis
Spinal cord dysfunction without compression or vascular issues.
Usually seen in children and young adults
- disease state via autoantibodies that attack the spinal cord directly, not peripheral nerves
Risk factors
- secondary to CMV/EBV/PARVO viral infections
- secondary to mycoplasma, campliobacter and borrelia infections
- inflammatory and autoimmune genetic disorders
- having cancer
- drugs/toxins
Symptoms, diagnosis and treatment of transverse myelitis
Acute Sensory and motor defects
- usually bilaterally*
- usually defined sensory/dermatome level that is affected *
Autonomic dysfunctions
Bowel and bladder dysfunctions
Diagnosis:
- MRI
- CSF
- CBC to result out etiologies
Treatment:
- steroids
- plasmapheresis
- IVIG
Multiple sclerosis
Central demyelination disorder that is the most common
- caused by autoantibodies
- affects white matter tracts predominantly
20-30yrs are most affected
Women are more affected
- Northern European/Caucasian’s are more affected
Risk factors:
- HLA-DR2 Allele
- genetics
- living further from the equator (northern and southern parts of the world are more affected.
- vitamin D deficiencies
- EBV exposure
Types:
1) relapsing remitting (90%)
- reoccurring “attacks” or neurologic dysfunction
- in between flares, patients recover well and are close to normal, however getting close to normal becomes harder as the disease progresses
- flares are usually triggered by trauma or serious infections
2) secondary progressive
- always begins as #1, but at some point, becomes primary progressive.
- doesnt go away overtime and builds on itself once it turns into PPMS
3) primary progressive
- starts as PPMS and gets worse overtime despite interventions
- is the worse type
Symptoms of MS
Optic neuritis
- 25% this is the first symptom
Sensory losses
Weakness/paresthesia
Diplopia
Ataxia
Bowel/bladder dysfunctions
Intention (action) tremors
inter nuclear opthalmoplegia (INO)
- medial adduction of ipsilateral eye dysfunction
- abduction nystagmus (beating nystagmus) dysfunction of contralateral eye
Lhermitte and uhthoff phenomenons
- flexes neck forward and feels “electrical shock” sensations and idiopathic increases in body temperature respectively.
*symptoms improve while pregnant
Diagnosis of MS
2 or more dysfunctional episodes that’s re not associated with each other
MRI scans show demyelinating plaques
CSF shows oligoclonal bands
must use multiple findings and tests to confirm, there is no 1 test
Treatment for MS
Acute attacks
- steroids (speeds recovery but that is it, also only used short term )
- plasmapheresis
Chronic attacks
- interferon-B
- natalizumab
- dimethyl furmarate
- new drugs come out all the time for this disorder
