Amyotrophic Lateral Sclerosis- ALS
Frontotemporal Dementia
-degeneration of the frontal and anterior temporal lobes -personality changes -language difficulty -behavioral disturbances- irritability, obsessions, poor insight, executive deficits
some behavioral or cognitive symptoms
>50% of ppl with ALS exhibit some _________________________ NOT MEMORY ISSUES
Fibrillations/Fasciculations
ALS presentation of muscle twitches due to denervation (usually first area of onset is in the tongue)
Riluzole (Rilutek)
Slows progression of ALS -antiglutamate -delays disease development by 3-6 months -extends time to death/invasive respiratory assist side effects: dizziness, upset stomach, diarrhea, loss of appetite, headache
familial ALS
_________________ represents 10% of ALS cases
normal; less impaired low score=poor prognosis/more severe
a high score on ALDFRS-R (ALS functional rating scale-revised) means? out of 48 pts
reverse rehabilitation
adapting to declining function rather than improving function
baclofen and/or diazepam (valium)
affects spacticity side effects: drowsiness, dizziness, weakness, tired feeling, headache, insomnia
progressive bulbar palsy
affects speech, chewing, swallowing, and respiratory muscles with minor weakness in limbs; death usually occurs from pneumonia within 1-3 years after diagnosis
overuse fatigue theory
attempt to increase force production in a muscle->repeatedly using same motor units->innervated muscle fibers are recruited excessively leads to motor neuron axon sprouting- sprouts gro from intact axons to replace what has been damaged sprouted motor units are larger and more susceptible to damage
ALS (Lou Gehrig's Disease)
characterized as degeneration of upper and lower motor neurons, leading to progressive muscular paralysis and death
asymmetrical muscle weakness in the hands, arms, legs, or the bulbar muscles (those for speech and swallowing) or muscles of respiration-leading to muscle atrophy -fasciculation (twitching) and cramping of muscles, especially in the hands and feet -"thick speech" and difficulty in projecting the voice -sensation is not affected
describe classic signs and symptoms of ALS
LMN
does amyotrophic refer to UMN or LMN?
focal weakness beginning in leg, arm, or bulbar muscles
for ALS, where are the most frequent initial symptoms?
UMN
is lateral sclerosis referring to UMN or LMN?
autsosomal dominant
mutation on chromosome 21 is ___________; 15-20% of familial ALS
endurance- 6 min walk test pulmonary function- PFT, incentive spirometer tone-modified ashworth balance- berg coordination- toe taps, heel to shin cognition- MOCA
outcome measures to use with ALS
-Family member diagnosed with familialALS -Smoking -Dietary factors -Several occupations: -Veterinarians/ health workers -Athletes -Hairdressers -Power-production plant -Military*** Vietnam (chemical exposure) Environmental risk factors: -History of trauma to the brain and spinalcord -A history of participation in varsity athletics -A slim physique -Strenuous physical activity -Radiation, electrical shocks -Heavy metal poisoning, and/or -Pesticide exposure
risk factors for ALS
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50%
what % present with hand or leg weakness or incoordination and dysarthria?
Riluzole (rilutek) and baclofen and or diazepam (valium)
what are meds fro ALS?
1. chemical imbalance 2. auto-immune response 3. protein mishandling 4. gene mutation
what are possible causes of ALS?
ventilatory issues: -diaphragmatic and intercostal weakness -non-invasive positive pressure ventilation (NIPPV) dysphagia (difficulty swallowing) -increased risk for aspiration and pneumonia -PED tube =percutaneous endoscopic gastrostomy pressure ulcers pneumonia weight loss- oral feeding not enough -dysphagia, depression, and fatigue
what are some medical complications associated with ALS?
1. progressive muscular atrophy (sporadic ALS) (Lou Gehrig's) 2. progressive bulbar atrophy 3. primary lateral sclerosis
what are the 3 types of ALS?
CN 9, CN 10, CN 12 (glossopharyngeal, vagus, hypoglossal)
what cranial nerves are affected by progressive bulbar palsy?
people with ALS generally have a higher than normal level of GLUTAMATE, around the nerve cells in the spinal fluid. Too much glutamate is known to be toxic to some nerve cells.
what do people with ALS tend to have higher levels of?
"no muscle nourishment"
what does amyotrophic mean?
progressive muscle wasting, death of motor neuron, axonal degeneration and demyelination, LMN component of ALS
what does amyotrophic refer to?
scarring of the corticospinal tract in the lateral column of the spinal cord; UMN component
what does lateral sclerosis refer to?
UMNs
what does primary lateral sclerosis mainly affect?
LMNs only, affects limb/trunk musculature, and RARELY affects muscles innervated by cranial nerves
what does progressive muscular atrophy ALS affect?
ALDFRS-R (ALS functional rating scale-revised)
what functional scale could you use for ALS?
ALS4 gene
what gene is autosomal dominant? (rare, juvenile ALS)
ALS2 gene
what gene is autosomal recessive? (rare, juvenile ALS)
an absence of sensory symptoms
what is ALS characterized by?
Frontotemporal Dementia (FTD)
what is a cognitive deficit associated with ALS?
MOCA (Montreal Cognitive Assessment)
what is a cognitive screen for ALS?
sensation IS NOT affected
what is one KEY characteristic to differentiate ALS?
classic Sporadic ALS (Lou Gehrig's disease) (AKA progressive muscular atrophy) (90%) diagnosed after age 30, peak occurrence in 50s
what is the most common type of ALS?
3-5 years with death generally due to respiratory muscle involvement
what is the survival rate for ALS?
auto-immune response
what is this possible cause of ALS? Immune system begins attacking normal cells, which may leas to the death of nerve cells
protein mishandling
what is this possible cause of ALS? gradual accumulation of abnormal forms of proteins in the cells, eventually causing the nerve cells to die
chemical imbalance
what is this possible cause of ALS? people with ALS generally have a higher than normal level of GLUTAMATE, around the nerve cells in the spinal fluid. Too much glutamate is known to be toxic to some nerve cells.
gene mutation
what is this possible cause of ALS? various ___________________ can lead to inherited ALS, which appears nearly identical to the non-inherited form
extraoccular and cardiac muscle spared
what muscles are usually spared with ALS
-simplify education/cues -train caregiver -written instructions/pictures -use repetition
what should you do when treating a pt with cognitive deficits?
Stage I of ALS
what stage of ALS is this? Independent mobility and ADLs; specific distal muscles mildly weak; may be limitations in function and or endurance
Stage III of ALS
what stage of ALS is this? ambulatory; severe weakness; mild/moderate functional limitation; may be difficult to hold head erect
Stage VI of ALS
what stage of ALS is this? bedridden ; MAX A w/ ADL; progressive respiratory distress
Stage II of ALS
what stage of ALS is this? moderate weakness
Stage V of ALS
what stage of ALS is this? progressive weakness; decreased function/endurance (progressing to dependency); uses WC may exhibit mod/severe UE weakness; may exhibit pain
Stage IV of ALS
what stage of ALS is this? severe LE weakness, mild UE weakness; may use WC; may need assist for ADLs
stage 1: specific group of muscles are mildly weak, decreased endurance
what stage of ALS would these interventions be for? -energy conservation training, modifications at work and home, and psychological support -AROM, stretching, resistive strengthening, aerobic activities -pt and caregiver education -strengthening of unaffected uscles at sub max level -****aerobic training
•Stage 2: Moderate weakness in groups of muscles, intrinsic muscle weakness (fine motor-hard)
what stage of ALS would these interventions be for? Assessing need for equipment/AD to support weak muscles •Continue AROM, stretching, strength, aerobic, PROM and AAROM to affected joints to prevent contractures, Patient and caregiver education •Aerobic training •Encourage multiple short bouts of exercise throughout the day totaling 30-45 minutes.
•Stage 6: Pt must remain in bed and require max assist for all ADLs
what stage of ALS would these interventions be for? •Repositioning, padding, and prevention of venous stasis in the legs in crucial. Cardiopulmonary therapy may be required, such as positioning to optimize ventilation-perfusion, postural drainage, coughing techniques, and airway clearance •Similar to hospice care, address the pt and caregiver's needs and maximize quality of life each day •Postural drainage, deep breathing and assistedcoughing
•Stage 5: Progressive weakness and deterioration of mobility and endurance, uses wheelchair when out of bed, arm weakness is now moderate to severe
what stage of ALS would these interventions be for? •Transferring is a major effort, so a lift may be needed. Pt unable to move themselves in bed, thus frequent repositioning is necessary for skin care •Pain may become an issue due to contractures, so soft tissue mobilization and stretching can help •Wheelchair will likely be necessary when out of bed •Increase time in upright positions to decrease risk ofpneumonia •Postural drainage, assisted cough techniques
stage 3: pt remains ambulatory but has severe weakness in certain muscle groups, unable to stand from a chair independently (mild-mod limit in fun)
what stage of ALS would these interventions be for? •Goal is to keep the pt independent, adaptive equipment to support weak muscles, decrease energy expenditure and improve safety and mobility (Wheelchair for long distances to avoid exhaustion), Wheelchair positioning •Pt may report increased heaviness and fatigue holding head up, benefit from soft collar •Energy conservation •Incorporate breathing strategies with movement patterns and exercises
•Stage 4: Severe weakness of the legs and mild involvement in the arms, thus pt requires wheelchair
what stage of ALS would these interventions be for? •PROM and AAROM to prevent contractures, continue AROM and strengthening of all uninvolved muscles •Regular inspection of skin and pressure relief techniques to prevent breakdown (egg-crate bed cushion, alternating bed pad may be recommended) •Use wheelchair to perform ADLs •Caregiver training to inspect skin for pressureulcers and positioning changes in sitting andsupine for pressure relief.
cognition, extra ocular eye mvts, autonomic, bowel and bladder and sexual functions usually remain intact
what usually remains intact with ALS?
UMN and LMN degeneration; largest and most heavily myelinated neurons most severely affected
which neurons are affected in ALS?
UMN and/or LMN signs and symptoms
which neurons are affected in progressive bulbar palsy?
ALS -classical (progressive muscular atrophy
•A disease of the body's motor neurons which are the nerve cells in the central nervous system that control muscle movement. It is a fatal disease that progresses rapidly, caused by the loss or death of neurons in the body.
Primary Lateral Sclerosis (PLS)
•Referred to as a milder case of ALS. It is also a degenerative neurological disorder but unlike ALS, the lower motor neurons are unaffected (UMN symptoms only).
PLS (Primary Lateral Sclerosis)
•The body parts that are initially affected are the leg muscles but it can also start in the bulbar muscles which control speech and swallowing. •Longer duration, unlike ALS •Patients with _________________ may have classical ALS, but have not displayed the LMN signs/symptoms
progressive bulbar palsy (PBP)
•a disease that attacks the nerves supplying the bulbar muscles. These disorders are characterized by the degeneration of motor neurons in the cerebral cortex, spinal cord, brain stem, and pyramidal tracts. This specifically involves the glossopharyngeal nerve (IX), vagus nerve (X), and hypoglossal nerve (XII).
