ALS
What is the pathogenesis of Amyotrophic Lateral Sclerosis?
Starts in the Upper motor neuron (UMN) or Lower motor neuron (LMN) then affects both
Increased levels of neurotransmitter glutamate
Death of peripheral motor neurons in brain stem and spinal cord leads to denervation then atrophy of muscles
What are the 2 characteristic findings in the pathogenesis of AD?
Amyloid plaques and neurofibrillary tangles
Enlargement of ventricles due to atrophy of basal ganglia volume of the brain decreases by 20%
Decreased GABA and ACTH, Increased dopamine and norepinephrine
What is the etiology and pathogenesis of Multiple Sclerosis?
Multiple sclerotic plaques throughout the brain and spinal cord that slow or block neural transmission
Etiology: Coexisting autoimmune disease, genetic component, viral infection can precipitate an attack
Pathogenesis: relapsing remitting- exacerbations followed by remissions free of disease progression- most common
What is the pathogenesis and etiology of Parkinson's Disease?
Pathogenesis: disorder of grey matter in basal ganglia, DECREASED dopamine
Etiology: Idiopathic, greatly increased with age
What is the clinical presentation of someone with UMN involvement with ALS?
Lack of dexterity, spasticity, abnormal UE extensor and LE flexor movement, spastic pseudobulbar palsy, hyperactive tendon/muscle stretch reflexes
What are the clinical presentations of a patient with early stages of AD?
persistent mild memory loss, difficulty navigating the environment, impaired judgement
What is the etiology of Huntington's disease?
Progressively hereditary disorder that causes abnormalities or movement, personality disturbances, dementia
All who inherit the gene will develop symptoms- Autosomal dominant disorder
What are the general signs and symptoms of someone with MS?
Progressive disability over time, 20% have a ebnign course with little to no disability
Early signs: vision loss, sensory changes, weakness
Spasticity in 90% of cases, fatigue in 50%, cognitive decline in 50%, ataxia, bowel and bladder problems
Describe the 4 common clinical characteristics of patient with PD?
Resting tremor:"pill rolling", goes away in sleep
Rigidity: cog-wheel, stooped shuffling gait, decreased arm swing, limits ROM for ADLs
Bradykinesia: loss of rapid, routine movement (dysarthria, micrographia, akinesia- masking, freezing- sudden stop when walking)
Postural impairments: flexed neck, trunk, hips and knees, kyphosis
What are the clinical manifestations of a patient with LMN involvement in someone with ALS?
Symmetrical distal muscle weakness (hands and feet), extensors are weaker than flexors (claw hand)
Cervical extensor weakness- causes difficulty breathing
Facial muscles affected- affects chewing, talking, swallowing
What are some major signs and symptoms of patients with AD?
Personality changes, Motor impairments, loss of memories, sleep disorders, altered sexual behavior, abstract thinking difficulties, difficulty performing familiar tasks
What are the movement disorders associated with huntington's disease?
Dysdiadokinesia (RAM), bradykinesia, gait abnormalities, dysarthria (speech), dysphagia (swallowing)
How is MS diagnosed?
Has to meet McDonald criteria!!!
- 2 seperate neurologic lesions of the CNS
- find evidence the damage occured at different points in time
- rule out all other possible diagnoses
How is PD diagnosed? What is prognosis?
Dx: presence of rigidity, tremor, bradykinesia. Good repsonse to synthentic dopamine, functional imaging
Prognosis: no known cure, increased risk of falls and osteoporosis, associated comorbidities affect outcome
How is ALS diagnosed? What is the prognosis?
EMG, muscle biopsy and muscle enzymes
Relentlessly progressive, longer course with onset <50 yrs old, average death in 2-5 years from onset, final stages are respiratory failure and eating difficulty
How is AD diagnosed? What is the prognosis?
Can't truly diagnose it until autopsy
Can do screening tests for cognitive function, Has to rule out other reversible causes of dementia
Prognosis: poor prognosis, progressive decline, 4th leading cause of death
Sleep disorders, cachexia (atrophy of muscles), urinary incontinence, depression, neuropsychological disorders
MS is rarely fatal but complications may arise from severe MS
Suicide >7x more common in this population
There is a poorer prognosis if: diagnosed > 40 yrs old, > 2 attacks in first 2 years of high frequency of relapses, sxs affect different body areas at onset
What is the role of PT with patients with PD?
Use of rhythmic auditory stimulation, train caregivers
Rock steady boxing
Exercises: improve mobility (big movements), increased flexibility, ROM, balance and postural strategies
What are the preserved areas of someone who has ALS?
Eye movement, bowel and bladder function, sensory function
Is there treatment for AD?
No cure!!
Should address nutrition, adapt environment for fall prevention and safety, train caregivers
How is Huntington's disease diagnosed? what is the prognosis?
Hx, clinical signs, genetic testing (ethical dilema)
Prognosis:
Earlier onset (15-40) years old- more severe
Slow progression of disease Survival to 80 years old is NOT uncommon
What is important for PTs to consider when treating patient with MS?
Monitor daily fatigue (can worsen sxs) and respiratory function, exercise can help with fatigue and depression, day-day variation: we have to make appropriate training program and give them a rane of activities
What is the treatment for parkinson's disease?
Synthetic dopamine: time on and off
Deep brain stimulation, treat depression, address respiratory complications, nutritional support