Amyotrophic Lateral Sclerosis

true

TRUE OR FALSE: A hallmark sign of ALS is a mixed UMN and LMN presentation.

true

TRUE OR FALSE: Sensation is usually not impaired in individuals with ALS.

amyotrophic lateral sclerosis (ALS)

progressive neurodegenerative disease - results in motor neuron death

LMN--> anterior horn cells, brainstem nuclei of CN V, VII, IX, X, XII (oculomotor nuclei spared)

UMN--> cerebral cortex, brainstem, spinal cord

false (5-10%)

TRUE OR FALSE: Most cases of ALS are inherited.

sporadic (idiopathic), familial (5-10%)

What are the two types of ALS?

ALS epidemiology

- most common motor neuron disorder

- average age of diagnosis: 55-65 y/o

- males > females

- military veterans (Gulf War) 2x as likely to develop ALS compared to non-military age matched norms

ALS pathophysiology

varies based on type

(FALS vs sporadic)

- aggregate build up of protein inclusion bodies--> toxicity and motor neuron cell death

- increased extracellular glutamate

- oxidative stress

false (unilaterally)

TRUE OR FALSE: ALS usually presents with symptoms presenting bilaterally and distally.

ALS clinical manifestations

combo of UMN/LMN signs and symptoms

limb onset (most common)--> weakness begins distally and unilaterally, UE extensors, LE flexors

bulbar onset--> weakness of mms involved with speech, swallow, facial expression

progressive--> cervical extensors, respiratory

*cognitive dysfunction (50%): more common with bulbar onset

SPARED--> sensory, eye muscles, sexual function, bowel and bladder

pseudobulbar palsy/affect

emotional lability, emotional outburst, pathologic laughing/crying, dysarthria, dysphagia, facial & tongue weakness

*results from spastic bulbar palsy (corticobulbar fibers from speech, mastication, swallowing centers affected)

respiratory failure

What is the most common cause of death in individuals with ALS?

ALS diagnosis

CLINICAL DIAGNOSIS = signs and symptoms of UMN and LMN loss

- steady progression of symptoms in one body region spreading to other body regions

*El Escorial Criteria

DIAGNOSTIC TESTS:

(support diagnosis and exclude other diseases)

- imaging (MRI)

- lab studies

- EMG

- myelogram

- muscle/nerve biopsy

- biomarkers

El Escorial Criteria

used for ALS diagnosis

ALS prognosis

mean survival: 2-5 years

BETTER:

1) younger age of onset

2) limb onset

3) psychological wellbeing

WORSE:

1) bulbar muscle weakness onset

*life sustaining measures (respirator, feeding tube) to prolong life is a patient/family decision

ALS practice parameters

multidisciplinary centers are BEST

LEVEL A:

- Riluzole should be offered to slow disease progression

LEVEL B:

- PEG should be considered to stabilize weight & prolong survival in patients with ALS

- non-invasive ventilation (NIV) should be considered to treat respiratory insufficiency in order to lengthen survival

LEVEL C:

- NIV to slow decline of forced vital capacity and improve QOL

- early NIV may increase compliance

- insufflation/exsufflation to help clear secretions

disease modifying agents

ALS PHARMACOLOGY

aim to change the natural progression of the disease

1) Rilozule

(discontinue treatment if fatigue occurs)

2) Radicava

3) Relyvrio

4) Qalsody

symptomatic treatment

ALS PHARMACOLOGY

"palliative" - aimed at improving QOL through prevention and relief of suffering

- fatigue

- pain

- pseudobulbar palsy/affect

- depression

- constipation

- sailorrhea (drooling)

ALS PT exam

ACTIVITY:

ALS functional rating scale--> monitors functional change in a patient over time

- measures speech, salivation, swallowing, handwriting, cutting food and handling utensils, dressing & hygiene, turning in bed and adjusting bed clothes, walking, climbing stairs, breathing

PARTICIPATION:

ALS Assessment Questionnaire--> health related QOL

- measures physical mobility, ADLs, eating and drinking, communication, emotional functioning

ALS PT intervention

STAGE SPECIFIC

1) EARLY - minimal disruption of ADLs function

preventative/restorative--> strengthening (must have at least 3/5 MMT score), stretching, A/AAROM, endurance (60-85% HR max 10 min bouts or continuous for 30)

AVOID-FATIGUE/OVERUSE

compensatory--> energy conservation, support group, adaptive equipment, ADs, environmental modifications

2) MIDDLE - W/C needed for long distances

preventative--> anti-pressure devices

restorative--> strengthening, stretching, endurance, A/AROM

compensatory--> adaptation of environment, support weak muscles (sling, braces, orthoses), ADs (w/c), caregiver training

3) LATE - W/C dependent or bed bound

compensatory--> caregiver training, mechanical lift

preventative--> pressure relieving devices (mattress for hospital bed, w/c), pulmonary/skin hygiene, PROM

affected muscle group must have at least 3/5 MMT

What is the most important consideration for strengthening a patient with ALS?

rehab framework for progressive diseases

REFER TO IMAGE