Week 6- Amyotrophic Lateral Sclerosis (ALS) Flashcards
PART 1: INTRODUCTION
PART 1: INTRODUCTION
- Amyotrophic = _______
- Lateral = ________
- Sclerosis = _________
- Amyotrophic = A-without, Myo-muscle, trophic-nourishment
- Lateral = defines area in spinal cord where portions of nerve cells that signal and control muscles are located
- Sclerosis = scarring/hardening in region
- ALS is the most common and devastatingly fatal of all _____ _______ diseases.
- Mortality typically occurs in __-__ years with highly variable symptoms.
- motor neuron diseases
- 2-5 years
- ALS is characterized by progressive degeneration and loss of motor neurons in _________, __________, and ____________
- Does it involve the destruction of UMN or LMN?
- Degeneration of anterior horn cells and descending _________ and ________ tracts.
- spinal cord, brain stem, and motor cortex
- Both UMN and LMN
- corticobulbar and corticospinal tracts
- Onset of ALS is often >___ years but can affect younger people.
- Does it occur in men or women more often?
- > 50 years
- Men > Women (1.5:1)
Describe the pathophysiology of ALS.
- Demyelination and gliosis of the motor cortex, corticospinal and corticobulbar tracts resulting from degeneration of UMN cell bodies in the motor cortex.
- As disease continues the degeneration continues in areas adjacent to original site of onset adjacent to contralateral sites of onset.
ALS only targets ______ neurons.
-motor neurons
What is the cause of ALS?
-Ultimately unknown
What is the biggest pathophy etiology related to ALS?
-Glutamate excitotoxicity resulting in increased levels in CSF, plasma, post-mortum tissue.
_______ ALS makes up about 90% of cases, however, 5-10% are genetic.
-Sporatic ALS
ALS Risk Factors:
- ______ > ______
- Caucasian, non-Hispanic minorities
- Geographical clusters
- Family Hx
- Age (__-__)
- Prior trauma or TBI
- Males > Females
- Age (55-75)
Diagnosis of ALS is very difficult and is largely diagnosed by _________ due to lack of biomarkers.
-exclusion
Clinical diagnosis of ALS requires a pattern of observed and reported symptoms of both _____ and _____ as well as a _________ ________ in physical function that cannot be attributed to other disorders.
- UMN and LMN
- persistent decline in physical function
Diagnostic Criteria (El Escorial criteria):
Exclusion of all other Dx + Progressive Functional Decline +
-Progressive UMN and LMN deficits in at least one limb or region of the human body
OR
-LMN deficits in at least one region as defined by clinical examination and/or by EMG in two body regions
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PART 2: ALS CLINICAL PRESENTATION AND SUBTYPES
PART 2: ALS CLINICAL PRESENTATION AND SUBTYPES
What is the cardinal sign of ALS?
Muscle weakness
Muscle Weakness:
- Most common impairment: focal, __________ muscle weakness beginning in LE or UE or bulbar weakness.
- ____ weakness»_space; ____ weakness
- ____ and __&__ muscles normally sparred until terminal stages.
- asymmetrical
- LMN weakness»_space; UMN weakness
- Eye and B&B muscles spared
What are some other impairments that may be seen following a diagnosis of ALS? (6)
-UMN Impairments (Spasticity, hyperreflexia, clonus, pathological reflexes, weakness)
-LMN Impairments (Hyporeflexia, hypotonicity, atrophy, fasciculations, weakness)
-Bulbar impairments (Spastic bulbar palsy or flaccid bulbar palsy; dysarthria, dysphagia, sialorrhea)
-Respiratory Impairments (Decreased respiratory muscle strength, reduction of VC up to 50% typically when symptoms arise)
-Cognitive Impairments (VARIABLE EVIDENCE ON PREVALENCE. Verbal fluency, language comprehension, memory, abstract reasoning)
-Additional Impairments
(Pain, fatigue; ANS symptoms (1/3 of cases))
_______ pathways, _______ motor function, and ______________ control are spared for majority of disease course
-Sensory pathways, ocular motor function, and sphincter (bowel/bladder) control spared until late stages.
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What are the (3) clinical subtypes of ALS?
- Classical ALS (limb-onset vs bulbar-onset)
- Primary Lateral Sclerosis (PLS)
- Progressive Spinal Muscular Atrophy (SMA)
What are 2 other lesser types of ALS?
- ALS with Frontotemporal Dementia (FTD)
- Familial ALS
Classic ALS:
- __/__ of ALS population, more common in men.
- Involvement of UMN or LMN?
- Either _____-onset or ______-onset.
- What are the early signs of Classic ALS?
- With additional bulbar involvement, there is wasting of the _________ and muscles for speech and swallowing.
- 2/3rds
- UMN and LMN
- limb-onset or bulbar-onset
- progressive limb weakness, reduced dexterity, wasting of hands, fasciculations
- tongue
Is limb-onset or bulbar-onset Classic ALS more common?
-Limb-Onset
Limb-Onset Classic ALS:
- __-__% of cases (most common presentation of ALS)
- First symptoms are a result from damage to motor neurons in _________ specifically ________ tracts.
- Are distal or proximal muscles affected first?
- 70-80%
- damage to motor neurons in motor cortex, specifically corticospinal tracts
- Distal (fasciculations, atrophy, weakness, spasticity)
Bulbar Onset Classic ALS:
-__-__% of cases.
-Does it progress faster or slower than limb-onset ALS?
First symptoms are a result of damage to motor neurons in _________, specifically __________ tracts (face, head, neck muscles).
-Affects CN ___-___ causing dysarthria and dysphagia.
-More common in older _______.
- 20-30%
- progresses faster than limb-onset
- damage to motor neurons in brainstem, specifically corticobulbar tracts
- CN IX-XII
- older females (2:3)
Primary Lateral Sclerosis (PLS):
- Rare condition affecting __% of those with ALS.
- ____ S/Sx only.
- If the LMNs are not affected within __ years, the disease usually remains a pure upper motor neuron disease.
- Key examination findings can include spasticity, UMN pattern weakness, and pseudobulbar findings.
- What does the prognosis of these patients look like?
- 5%
- UMN
- 2 years
- Relatively good with life expectancy comparable to normal!!
Progressive Spinal Muscular Atrophy (SMA IV):
- __-__% of cases
- ___ S/Sx only.
- Mainly ____ involvement.
- Does it affect men or women greater?
- May be limited to one region, examples include ___________ syndrome and _________ syndrome.
- Progression is highly variable (slow or rapid) and the median survival duration after onset is ___ months longer that patients with ALS.
- 5-10%
- LMN
- limb
- Men > women (2:1)
- flail arm syndrome (cervical), flail leg syndrome (lumbosacral)
- 12 months
- Flail Arm Syndrome = _______
- Flail Leg Syndrome = _______
- Flail Arm Syndrome = bilateral symmetrical
- Flail Leg Syndrome = bilateral asymmetrical
ALS with Frontotemporal Dementia (ALS-FTD):
- Cognitive symptoms and dementia once thought to be uncommon ALS symptom. Recent studies suggest that roughly ___% of patients with ALS demonstrate mild-mod cognitive and/or behavioral impairments without dementia and ___% of individuals with ALS will develop FTD.
- What are some common deficits with these patients?
- This can adversely affect compliance. Clinical course is usually more rapid in patients with ALS-FTD.
- 30% cog/behavioral impairments, 20% develop FTD
- Common deficits involve executive dysfunction (language or personality) and can cause problems with judgement, impulsivity, decreased ability to handle routine tasks.
Familial ALS:
- __-__% of cases
- Most cases are inherited in an autosomal _______ pattern.
- What is the common onset?
- No difference between Familial ALS and _______ ALS on neurological examination.
- 5-10%
- autosomal dominant pattern
- 40s-50s
- Sporadic ALS
PART 3: STAGING, MEDICAL MANAGEMENT, PROGNOSIS
PART 3: STAGING, MEDICAL MANAGEMENT, PROGNOSIS
How many stages of ALS are there?
-6 Stages
Describe the progression of ALS from stage I-III.
Stage I: early disease, mild focal weakness, asymmetrical distribution, symptoms of hand cramping and fasciculations
Stage II: moderate weakness in groups of muscles, some wasting (atrophy) of muscles; modified independence with assistive devices
Stage III: severe weakness of specific muscles, increasing fatigue, mild to moderate functional limitations, ambulatory
Describe the progression of ALS from stage IV-VI.
Stage IV: severe weakness and wasting of LEs, mild weakness of UEs; moderate assistive and assistive devices, wheelchair user
Stage V: progressive weakness with deterioration of mobility and endurance, increased fatigue, moderate to severe weakness of whole limbs and trunk, spasticity, hyperreflexia, moss of head control, maximal assist
Stage VI: bedridden, dependent ADLs, FMS; progressive respiratory distress
Is there an effective treatment for ALS?
-NO
Where does most of treatment go if there is no effective treatment/cure?
-Symptomatic treatment
- What is the #1 disease modifying drug used to prolong survival by at least a few months and slows progression of ALS?
- This drug is specifically thought to help slow _______-onset ALS.
- Riluzole
- bulbar-onset
What is the main outcome measure used for ALS?
-ALS Functional Rating Scale (ALSFRS-R)
ALSFRS-R:
- Measures _____ and ______ function across 12 functional categories.
- Used to assess what 2 things?
- Total possible score 48 with higher scores reflecting _______ performance.
- ADL and global function
- Used to assess response to treatment or disease progression
- higher scores = worse performance
Prognosis:
- Average mortality rate __-__ years with ultimately respiratory failure.
- What are some negative prognostic indicators?
- What are positive prognostic indicators?
- 2-5 years
- bulbar-onset, early respiratory signs
- patients who participate in multidisciplinary clinics
