Progressive Neurodegenerative Conditions (PND) Flashcards
Progressive neurogenerative disorders (PND)
- progressive conditions that affect the brain and spinal cord’s nerve cells, or neurons
- characterized by the gradual loss of neurons
- leads to a decline in brain functions like memory, movement, and cognition
Common neurogenerative disorders:
- Alzheimer’s
- Multiple Sclerosis (MS)
- Parkinson’s Disease (PD)
- Amyotrophic Lateral Sclerosis (ALS)
Multiple sclerosis
- a debilitating immunological and neurodegenerative disease
- genetically susceptible person
- autoimmune disease
- causes demyelination = the immune system attacks the myelin sheath that surrounds the brain, spinal cord, and optic nerve
- chronic inflammation and diffuse demyelination in white matter and grey matter and the axons
- demyelination of the neurons in the CNS results in scar tissue formation or plaques that reduce the axons’ ability to conduct impulses
- relapsing and progressive MS
- location of demyelination varies from person to person = various symptoms
Importance of myelin (MS)
- protein and fatty substance that insulates and protects nerve cells, allowing electrical impulses to travel faster and more efficiently
- required to maintain stability, function, and normal lifespan of the neuron
- it damaged, these impulses slow down (doesn’t get to the muscles)
What occurs during MS
- disseminated patches of demyelination on nerves
- replaced by sclerotic lesions or plaques
- slowly progressive disease
- degeneration becomes irreversible and function is lost permanently
- with each reoccurrence, additional areas of the CNS are involved
Incidence and prevalence of MS
- most common non traumatic neurological disorder among adults under 40
- currently thought to affect 730,000 people in the U.S.
- unevenly distributed around the world
- increased in countries with higher latitudes, where the sunlight is limited
- differ by race and ethnicity
- African descent generally lower risk than Caucasians
Stats in MS (slide 9)
- 3 times more common in females than males
- Germany = highest prevalence
Diagnostic tests for MS
- not single test can confirm on MS diagnosis (what will be listed are a few test that can aid in diagnosing the disease)
- MRI = uses a strong magnetic field and radio waves to assess water content in tissues, which can then be used to create a detailed image
- evoked potential = used to measure the electrical activity of the brain in response to a stimulus by placing electrodes on specific parts of the body
- spinal tab = a procedure in which a small sample of the cerebrospinal fluid is collected
- vision tests = can help to assess optic neuritis and other eye-related complications
- most common progressive neurodegenerative disease
- usually diagnoses between 20-40
- peak age of onset = 30
- rarely seen in children or diagnosed over 60
Diagram of symptoms of MS (slide 11)
- numbness, tingling
- vision problems
- walking difficulty
- cognitive dysfunction
- depression
- fatigue
- muscle spasms
- weakness
- dizziness
- pain
- bladder dysfunction
- bowel dysfunction
*exercise can prolong your life with MS
Signs and symptoms of MS
Muscle symptoms:
- weakness in legs
- progressive weakness and paralysis extending to the upper limbs
- spasticity
- ataxia
- facial weakness = Bell’s palsy
Visual symptoms:
- scotoma
- visual blurring
- diplopia
- unilateral optic neuritis
Sensory symptoms:
- paresthesia
- facial pain or pain from muscle spasms
Speech and swelling symptoms:
- dysarthria
- trouble chewing and swallowing
Other symptoms:
- bowel and bladder dysfunction
- sexual dysfunction
- chronic fatigue
- depression or euphoria may develop
- decreased attention span, poor judgment, and memory loss
- difficulty reasoning and solving problems
Cognition symptoms:
- short-term memory deficit
- problems with abstract conceptualization
- attention deficit
- slowed information processing
Spasticity
- spontaneous and movement induced muscle spasms
Scotoma
- spot in the visual field (usually the first symptom)
Diplopia
- double vision
Unilateral optic neuritis
- inflammation in the optic nerve on one side
- loss of color vision, pain when moving eye, loss of vision in one eye, change in pupillary reaction
Paresthesia
- areas of numbness, burning, and tingling
Dysarthria
- slurred and difficulty to understand speech
Chronic fatigue
- often worse in the afternoon (most common complaint and can be the most debilitating)
Lesion at cerebrum (MS)
Impairments:
- cognitive
- hemisensory and motor
- affective
Sign and symptoms:
- impaired attention, memory, and executive functions
- upper motor neuron signs
- depression or euphoria
Lesion on optic nerve (MS)
Impairments:
- loss of vision
Sign and symptoms:
- scotoma, reduced visual acuity, color blindness, and ocular pain
Lesion on cerebellum (MS)
Impairments:
- tremor
- dysarthria
- incoordination and poor balance
Sign and symptoms:
- postural and limb instability during movement
- poor articulation
- clumsiness, ataxic movements, and falls
Lesion on brainstem (MS)
Impairments:
- loss of vision
- vertigo
- dysarthria
- pseudobulbar palsy
Sign and symptoms:
- nystagmus, reduced oculomotor control
- decreased balance
- impaired swallowing
- impaired speech and emotional lability
Lesion on spinal cord (MS)
Impairments:
- impaired muscle tone
- bowel and bladder dysfunction
- erectile dysfunction
Sign and symptoms:
- spasticity, weakness, stiffness, and painful spasms
- incontinence and constipation
- impotence
Lesion on other site (MS)
Impairments:
- fatigue
- pain
- desregulation and temperature
Sign and symptoms:
- unexplained lethargy, exercise intolerance
- complains of pain in various body regions
- hypersensitivity to heat
Types of multiple sclerosis
- benign (clinically isolated)
- relapsing-remitting MS (RRMS)
- secondary progressive MS (SPMS)
- primary-progressive MS (PPMS)
Benign (clinically isolated syndrome - MS)
- one or two more episodes of neurological deficits
- no residual impairments
- the person’s chance of remaining symptoms free increases with each asymptomatic year
- 5-10%
Key characteristics:
- minimal disability = patients with benign MS maintain a high level of function and experience few, if any, significant physical or cognitive impairments
- long period of stability = the disease shows little to no progression in terms of disability over a long period, often with infrequent relapses
- retrospective diagnosis = the label “benign MS” can only be applied after years of disease stability, typically around 10-15 years, making early prediction challenging
Relapsing-remitting MS (RRMS)
- most common form of MS
- 80-85%
- periods of new or worsening symptoms (relapses) followed by periods of partial or complete recovery (remissions)
- during remissions, symptoms may disappear entirely or improve significantly, but the disease does not progress between relapses
- relapses = sudden flare-ups of symptoms that can last for days, weeks, or months (can include fatigue, numbness, vision problems, muscle weakness, difficulty walking, and cognitive changes)
- remissions = periods of recovery where symptoms may subside or improve (no apparent disease progression during these times)
- disease course = RRMS can transition into secondary MS (SPMS) over time, where the disease progresses more steadily with fewer or no remissions
*when the person gets more and more attacks, they don’t always recover to the baseline
Secondary progressive MS (SPMS)
- typically follows the relapsing-remitting form (RRMS)
- disease progresses more steadily, with or without relapses, and the recovery during remission periods is less complete
- symptoms gradually worsen and disability increases
Key features of SPMS:
- transition from RRMS = many people with RRMS eventually transition to SPMS (the exact time varies, but usually occurs 10-20 years after the initial RRMS diagnosis)
- progression = unlike RRMS, SPMS is characterized by a continuous progression of symptoms, with or without relapses (remissions become less common and when they do occur, recover is typically incomplete)
- symptoms = increased mobility issues, spasticity, worsening cognitive function, fatigue, and bladder or bowel problems
- disability = over time, individuals with SPMS often experience increasing disability, which can significantly impact their daily life and independence
Primary-progressive MS (PPMS)
- less common forms of MS
- 10-15% of all MS cases
- characterized by a gradual and continuous worsening of symptoms from the onset
- no distinct relapses and remissions seen in other forms of MS
Key features of PPMS:
- progressive course = from the very beginning, PPMS involves a steady progression of symptoms (there may be occasional plateaus or minor improvements, but overall, the disease consistently advances)
- no relapses = unlike RRMS or SPMS, PPMS typically does not involve relapses or significant periods of remission (symptoms worsen gradually over time)
- symptoms = common symptoms include progressive muscle weakness, particularly in the legs, difficulty walking, spasticity, balance problems, fatigue, and sometimes cognitive changes
- onset age = PPMS usually has a later onset compared to RRMS, often being diagnosed in people in their 40s or 50s
- gender = unlike RRMS (which is more common in women, PPMS affects men and women almost equally
Medication management of MS
Medications designed to reduce the frequency of relapses, delay the progression of disability, and decrease the number of new lesions seen on MRI:
- injections
- oral medications
- infusions
Oral medication for symptomatic treatments:
- spasticity
- pain
- fatigue
- bladder dysfunction
- cognitive dysfunction
- mobility
- steroids are used to reduce severity and duration of relapses
- deep brain stimulator = electrodes implanted in the brain to modulate abnormal neural activity
Deep brain stimulation (MS)
1.) DBS leads = thin insulated wires are inserted into the brain through small holes in the skull
2.) extension wires = the wires are threaded under the skin and down the side of the head and neck, then connected to the battery pack
3.) implantable pulse generator (IPG) = this pacemaker-like device is implanted near the collar bone and sends pulses to targeted structures within the brain
Occupational implications of MS
- fatigue
- mobility and balance issues
- spasticity and muscle weakness
- cognitive impairments
- bladder and bowel dysfunction
- speech and swallowing difficulties
- emotional and psychological challenges
- social participation
- work and vocational challenges
Parkinson’s Disease (PD)
- a progressive neurological disorder that primarily affects movement (when you don’t have enough dopamine)
- degeneration of dopamine-producing neurons in a part of the brain called substantia nigra
- dopamine is a neurotransmitter crucial for coordinating smooth and balanced muscle movements
- as the disease progresses, it leads to a variety of motor and non-motor symptoms that can significantly impact daily life and occupational performance
Etiology of PD
- unclear cause
- potentially an interaction of genetic and environmental factors
- familial PD (10% of the cases, genetic association)
- sporadic PD
Environmental factors that are associated may be:
- dietary intake
- exposure to environmental elements
- history of head trauma
- Type II diabetes
Incidence and prevalence of PD
- 2nd most common neurodegenerative disorder in older adults (Alzeihmer’s = 1st)
- worldwide = 1% of population over age 65
- PD affects males slightly more than females (3-2 ratio)
- primary risk factor = age
- 1,000,000 people in the U.S. lives with PD
- 90,000 people in the U.S. are diagnosed with PD every year
Early warning signs of PD
- tremor = slight shaking in hand, finger, or chin while at rest (pill tremor)
- small handwriting = may include smaller letters and/or words crowded together
- trouble moving = stiffness in limbs, body, or shoulders; feet feeling “stuck to the floor”
- voice changes = voice may sound soft or hoarse
- dizziness = feel dizzy or faint upon standing
- loss of smell = inability to smell certain foods, such as bananas, pickles, and licorice
- sleep problems = sudden movements during sleep, acting out dreams
- constipation = difficulty moving bowels without straining
- masked face = face looks angry, serious, or depressed even when happy (their skin is really tight that they cannot do a full smile anymore to raise their eyebrows)
- stooping = change in posture when you stand, such as stooping or slouching
Signs and symptoms of PD
Motor:
- bradykinesia
- tremors
- rigidity
- postural instability
- gait difficulties
- vocal
- pill rolling
- general symptoms
- lead pip rigidity
- cogswell rigidity
Nonmotor:
- fatigue
- muscle weakness/aching
- decreased spontaneous change in facial expression/masking
- cognitive impairments
Bradykinesia
- slow, rhythmic movements
- difficulty initiating movement
Tremors
- usually occurs when at rest
- fingers, hands, forearms, foot, mouth, chin
- pill rolling tremors
- tremors cease with voluntary movements and during sleep
Rigidity
- joint stiffness
- can cause joint and muscle pain
- lead pipe and cogwheel
Postural instability
- partially due to loss of reflexes
- often leads to falls
Gait difficulties
- festination of gait = short shuffling steps with increased acceleration, lack of arm swing
- freezing
Vocal
- considered to be partly due to bradykinesia
- loss of variation and emotion or more rapid or stuttering
Lead pipe rigidity
- rigidity is all throughout (tight all throughout the range of motion)
Cogswell rigidity
- you get little bit tight, then pause
Cognitive impairments of PD
- functional cognition/executive function
- memory problems
- word finding
- maybe due to certain type of PD = Lewy bodies dementia
Secondary symptoms of PD
- dysarthria (can’t make facial muscles)
- dysphasia and difficulty swallowing (can’t make facial muscles)
- flexed forward position (leaning forward with head and neck flexed)
- slowed responsiveness
- anxiety
- depression
- sexual function changes
Later stage changes:
- autonomic dysfunction
- urinary retention
- constipation
- orthostatic hypotension
- dementia
Medical interventions for PD
Dopamine replacement medication:
- on/off times
- Levodopa/Sinemet (medication)
- causes dyskinesia = excessive movements
- when you are on the meds, you have to increase dosage each time to make it work
- surgery = deep brain stimulation
- medication for secondary conditions
Stages of PD (modified Hohn and Yahr scale)
Stage 1:
- unilateral involvement with minimal functional impairment
- resting tremors
Stage 1.5:
- unilateral and axial involvement
Stage 2:
- bilateral involvement without impairment of balance
Stage 2.5:
- mild bilateral disease with recovery on pull test
Stage 3:
- mild to moderate functional impairments; bilateral disease
- postural instability
- physically independent
Stage 4:
- severe disability
- can walk or stand independently
Stage 5:
- the person requires use of wheelchair
*the key is to mange the symptoms and to manage it medically, to keep them strong, and to maybe slow down the progression
Stages diagram (slide 39)
- stage 1 = develop mild symptoms but able to hold about day-to-day life
- stage 2 = symptoms such as tremors and stiffness begin to worsen, may develop poor posture or have trouble walking
- stage 3 = movement begins to slow down, loss of balance
- stage 4 = symptoms are severe and cause significant issues with day-to-day living, unable to live alone and will need care
- stage 5 = walking or standing may be impossible at this point, people at this stage are often confined to a wheelchair or bed
PD’s dementia
- up to 80% of people with PD eventually develop dementia
- the average time from onset of movement problems to the development of dementia is about 10 years
- trouble focusing
- trouble remembering things or making sound judgments
- may develop depression, anxiety, or irritability
- they may also hallucinate and see people,objects, or animals that are not there
- sleep disturbances or “REM behavior disorder”, which involves acting out dreams
- research suggests that a person with PDD may live an average of 5-7 years with the disease, although this can very from person to person
Occupational implications of PD
ADLs:
- mobility challenges
- fine motor skills
- balance and coordination
IADLs:
- cooking and meal preparation
- household management
- driving
Work and Productivity:
- job performance employment status
- workplace accomodations
Leisure and Social Participation:
- social isolation
- engagement in hobbies
- physical activity
Mental Health:
- cognitive impairments
- depression and anxiety
Sleep and Rest:
- sleep disturbances
Communication:
- speech difficulties
Amyotrophic lateral sclerosis (ALS)
- also known as Lieu Gehrig’s disease
- amyotrophic = derived from the Greek works “a” (no), “myo” (muscle), and “trophic” (nourishment), meaning “no muscle nourishment”
- literally means muscle wasting and weakness seen in the disease
- the nerves that feed the muscles die off
- lateral = refers to the lateral columns of the spinal cord where the motor neurons are located
- sclerosis = refers to the hardening or scarring of the tissue due to loss of neurons
*the brain and its cognition is still fully functioning
- a motor neuron disease that attacked the motor neurons located in the brain, brainstem, and spinal cord
- causes death to nerve cells controlling voluntary muscles of the body, resulting in paralysis and is ultimately fatal
- loses the ability to walk, talk, eat, and then breathe
- a rapidly progressive with no cure
- the lived experience includes dealing with emotional, physical, caregiving, technology, and end of life issues
Incidence and prevalence of ALS
- average life expectancy = 2-5 years
- every 90 minutes, someone is diagnosed with ALS and someone passes away from it
- most people who develop ALS are between the ages of 40 to 70
- average age at the time of diagnosis = 55 years old
- cases of ALS do not occur in people in their 20s or 30s
- ALS is 20% more common in men than woman (with increasing age, the incidence of ALS is more equal between men and women
- about 90% of ALS cases occur without any known family history or genetic cause
- the remaining 10% of ALS cases are inherited through a mutated gene with a known connection to the disease
- for unknown reasons, military veterans are more than likely to be diagnosed with the disease than the general public
Types of ALS
- familial ALS = genetic mutation (10%)
- sporadic ALS = no known cause (90%)
Various characteristics of ALS depends on initial effects:
- bulbar onset = initially affects the muscles controlling speech and swallowing
- spinal onset = initially affects muscles controlling the arms and legs
*eventually ALS affects all muscles in the body
Signs and symptoms of ALS
- no clear onset = the disease affects people at different rates and can have a subtle beginning
- muscle weakness and atrophy are common first signs, often progressing in a symmetrical fashion DISTAL to PROXIMAL
- usually noted first in the hands during fine motor tasks but sometimes noted in the feet when walking
- damage to lower motor neurons = flaccid paralysis with decreased muscle tone and reflexes
- loss of balance and falls
- sensory systems, cognition, and urinary sphincters are usually spared
- depression
Lower motor neuron: - focal and multifocal weakness
- atrophy (progressive; distal to proximal)
- muscle cramping
- fasciculation (muscle twitching)
Corticospinal tract: - spasticity
- hyperreactive reflexes
- dysphasia (impaired quality of speech production)
Corticobulbar tract: - dysphagia (difficulty swallowing)
- dysarthria (impaired quality of speech production)
How early stage ALS affects the body
- poor posture
- slurred speech
- trouble breathing
- twitching
- lower limb weakness
- tripping
- muscle cramps
- clumsy hands and fingers
- trouble swallowing
How is ALS diagnosed?
- by ruling things out
- nerve conduction study = measured the speed at which nerve cells transmit electrical impulses
- electromyography = records the electrical activity of the muscle at rest and during muscle contractions
- MRI = produces detailed images of structures inside the body
- muscle biopsy = detects abnormalities in muscle tissue
- spinal tab = provides information about inflammation and damage in the brain and spinal cord
Cognitive and behavioral deficits of ALS
- overlooked for years, now being researched
- 35-50% have cognitive deficits
- risk factors = older age, bulbar disease, family history dementia, presence of one abnormal gene repeat
- described as frontal/executive dysfunction in nature, some develop fronto-temporal dementia
Frontal/executive dysfunction and front-temporal dementia of ALS
- functional cognition
- decreased language fluency
- memory deficits
- verbal memory
- social cognition
Medical intervention of ALS
- respiratory support (C paps)
- gastrostomy tube (surgical opening into the stomach)
- medication to manage symptoms
3 FDA approved drugs: - Riluzole = helps people stay in older stage for longer and increases survival for 3-6 months
- Radicava = does slow functional decline but has side effects
Occupational implications of ALS
Early-stage ALS:
- trouble buttoning clothes or gripping objects
- balance problems and frequent tripping
- difficulty swallowing or speech problems
-muscle twitching and cramping
Middle-stage ALS:
- some muscles become paralyzed
- walkers and wheelchairs may be needed
- inability to drive
- breathing problems
Late-stage ALS (end of life planning):
- mobility is extremely limited
- most people require a feeding tube
- inability to communicate without assistance
- breathing function becomes severely impaired
End-stage ALS (end of life planning):
- paralysis of voluntary muscles
- respiratory complications are the most common cause of death
- hospice care may be necessary
- medications can be given to was pain and anxiety
