DRG Category: 57
Mean LOS: 5.6 days
Description: Medical: Degenerative Nervous System Disorders Without Major Complication or Comorbidity
Amyotrophic lateral sclerosis (ALS) is a degenerative, progressive disease that causes atrophy (wasting) of muscle fibers that control voluntary muscle movement. ALS is a fatal disease with an average life expectancy after diagnosis of approximately 3 years, although some persons live as long as 10 or 15 years with a benign form of the disease. There are approximately 18,000 Americans living with the disease at any one time, and each year in the United States, there are 5,600 new cases. ALS is often referred to as Lou Gehrig disease after the baseball player who died from it. ALS is characterized by a progressive loss of motor neurons (in both the cerebral cortex and the spinal cord). The muscular atrophy is called amyotrophy. As motor neurons are destroyed in the cerebral cortex, the long axons and the myelin sheaths that make up the corticospinal nerve tracts disappear. The loss of fibers in the nerve tracts and development of a firmness in the tissues lead to the designation lateral sclerosis. One important feature of the disease is the selective nature of neuronal cell death. The sensory networks and the portions of the brain needed for control and regulation of movement, intellect, and thinking are not affected, while motor function deteriorates. The most common complications of ALS are respiratory dysfunction, and death may occur because of pneumonia or respiratory failure.
The precise cause of ALS is unknown. Only 5% to 10% of patients have the inherited form. These people have a closely related family member with ALS, and the disease is referred to as familial ALS (FALS). Most people with adult-onset ALS have no family history of ALS. This isolated situation is referred to as sporadic ALS (SALS), and although there is likely a genetic predisposition involved, it is not inherited.
Theories of disease development center on an interaction between genetics, environment, and age-related risk factors; experts suggest that a biochemical transformation occurs (such as a viral infection), which creates a metabolic disturbance in motor neurons or an autoimmune response directed against motor neurons. Most scientists agree that smoking is an environmental risk factor. Other possible risk factors are serving in the military, head trauma, and living in the Western Pacific islands (most commonly Guam), as well as physical exhaustion, severe stress, viral infections, and conditions such as myocardial infarction and malnutrition. Data from recent studies raise concerns that athletes in the sports of American football, European football, soccer, and boxing may be at risk.
Like Alzheimer disease, ALS has both familial and sporadic forms. Approximately 10% of ALS is familial and follows an autosomal dominant pattern of inheritance. A recently identified mutation in the gene C9orf72 is responsible for approximately 50% of FALS and for 5% to 10% of SALS. Another 15% to 20% of FALS cases have been linked with mutations in the superoxide dismutase-1 gene (SOD1). Juvenile-onset forms of ALS are more likely to be familial and have been associated with mutations in the alsin (ALS2), senataxin (SETX), and Spatacsin (SPG11) genes, among others. Other rarer mutations in FUS, VAPB, ANG, TARDBP, and FIG4 cause adult-onset ALS, whereas modifying mutations in NEFH, PRPH, ATXN2, and DCTN1 appear to affect susceptibility to SALS.
There is a higher incidence of ALS in men than in women, although after menopause, the male-to-female ratio equalizes. Women have more problems with speech dysfunction than men. The onset of the disease usually occurs in middle age, predominantly in the fifth or sixth decade. Mean age of onset is 65 years. If the symptoms develop during the teenage years, the patient probably has FALS.
In the United States, ALS affects White persons more than other racial/ethnic groups or persons with mixed races/ethnicities. In contrast, Black persons live longer with ALS than White persons. Recent work suggests that this may occur because Black persons opt for tracheostomy and invasive ventilation use more than other groups. Data suggest that persons with Pacific Islander ancestry may have a higher prevalence of the disease than other populations. Sexual and gender minority status has no known effect on the risk for ALS.
ALS occurs in people around the world. The frequency of ALS in European countries is similar to that among the U.S. population: 2 per 100,000 persons per year. Finland and Japan have a higher incidence than most other populations, as do Guam, New Guinea, and the Marianas Island. There are no data available for the disease in developing countries.
PLANNING AND IMPLEMENTATION
Collaborative
Management of ALS is focused on the treatment of symptoms, maintaining quality of life, and rehabilitation measures. No specific treatment for the disease exists that will influence the underlying pathophysiology.
Rehabilitation
Rehabilitation aids are available to overcome the effects of muscular disability and to support weakened muscles. A planned program of exercise helps patients function for a longer period of time.
Airway Management
Supporting the patient's airway and breathing becomes essential as the disease progresses. Noninvasive ventilation (NIV) is the use of breathing support under positive pressure using a face mask, nasal mask, or helmet. Oxygen can be added to the air, and generally the amount of pressure is alternated depending on the phase of breathing (inspiration or expiration). Experts suggest that NIV is the most effective treatment for prolonging life in people with ALS. The patient's deteriorating respiratory status may eventually require mechanical ventilation in certain situations. If a ventilator is being used at home, the patient and significant others will need instructions on ventilatory management.
Nutrition
When the patient can no longer maintain nutrition, enteral or parenteral feedings may be initiated. Experts suggest percutaneous endoscopic gastrostomy for long-term nutritional management as the patient's appetite declines and as swallowing becomes impaired.
| Medication or Drug Class | Dosage | Description | Rationale |
|---|
| Riluzole | 50 mg PO q 12 hr | Central nervous system agent | Inhibits presynaptic release of glutamic acid in the central nervous system; prolongs tracheostomy-free survival by decreasing injury of neurons by glutamic acid |
| Baclofen | 5–10 mg PO tid | Skeletal muscle relaxant | Manages muscle spasticity |
| Tizanidine | 4–8 mg PO qid | Skeletal muscle relaxant | Manages muscle spasticity |
Other Therapy: NSAIDs, tramadol, detorolac for pain; benzodiazepines or anticonvulsants for cramps.
Independent
Managing the Disease
A variety of mobile chairs are available to help maintain the patient's quality of life and independence. Teach the patient breathing exercises, methods to change positions, chest physical therapy techniques, and incentive spirometry. Explore measures to reduce the risk of aspiration. Encourage rest periods prior to meals to decrease muscle fatigue. Have the patient sit in an upright position with the neck slightly flexed during meals, use a neck support such as a cervical collar, and serve foods with a soft consistency. Encourage the patient to remain in an upright position for at least 30 minutes after a meal. If the patient is having problems handling oral secretions, teach them how to use oral suction.
As the disease worsens, the patient may lose the ability to speak. Work with the patient and family to develop alternate methods of communication, such as tablet computers, picture or word charts, or computers with artificial speech or synthesizers. When the patient's immobility increases, teach the family to provide skin care to all pressure points. The patient needs to be turned and positioned frequently. The use of a pressure-reducing mattress will also help maintain skin integrity.
Activities of Daily Living
To achieve maximum mobility and independence, institute an exercise regimen with active or passive range-of-motion (ROM) exercises. Use supportive devices for mobility and transfer, and instruct the patient on the use of splints. Establish regular bowel and bladder routines. Work with the patient and significant others to develop a pattern for activities of daily living that allows the patient to participate but not to become overly fatigued. As mobility decreases, help the patient obtain equipment such as a walker, a wheelchair, or a lift. Ask the patient or family to describe the living environment (or perform a home assessment) to identify areas that may cause potential injury or to recommend modifications to the environment.
Emotional Support
Early in the disease process, expect the patient and family to be angry, deny the probable disease outcome (death), or show extreme anxiety. The patient and family will most likely experience periods of depression and may need a referral to a counselor or support group. Recognize that the disease is a catastrophic event in the family's life and will change the family forever. Most communities have local chapters of the Amyotrophic Lateral Sclerosis Association, and its Web site is very helpful for patients and families: https://www.alsa.org.
End-of-Life Planning
Planning with a palliative care specialist is critical to ensure that wishes of the patient and family are incorporated into a palliative plan of care. In addition to supporting the patient as symptoms worsen, disabilities increase, and death approaches, end-of-life care will support the patient's and caregivers' quality of life, spiritual needs, and mental health needs.
Evidence-Based Practice and Health Policy
Kim, G., Gautier, O., Tassoni-Tsuchida, E., Ma, X., & Gitler, A. (2020). ALS genetics: Gains, losses, and implications for future therapies. Neuron, 108, 822–842.
- The authors reviewed background information about ALS, a fatal neurodegenerative disorder caused by the loss of motor neurons from the brain and spinal cord. The patient experiences progressive loss of motor function and ultimately the loss of respiratory function that leads to death. The authors note that the genetic changes that occur with ALS are similar to those that occur with some types of dementia, which is helpful as the focus on both conditions is to find therapies related to genetic function.
- Loss of function mutations of genes may modify the severity of or susceptibility to ALS and are targets for therapeutic strategies. Current efforts focus on personalized therapies for individual patients with specific targets for medications.