Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s Disease named after the famous Yankee baseball player, is a progressive and fatal neuromuscular disease that causes degeneration of motor neurons. The cause of ALS is not yet fully understood, although there is plenty of speculation in the research world currently focusing on glutamate, a neurotransmitter that has a role in motor neuron degeneration.¹

Scientists found that ALS patients have higher levels of glutamate in the serum and spinal fluid when compared to healthy people. Studies show that neurons begin to die off when exposed over long periods to excessive amount of glutamate.²

An important step towards understanding ALS came in 1993 when scientists found that a mutation in the gene that produces the enzyme superoxide dismutase 1 (SOD1), a powerful antioxidant, was associated with some cases of familial ALS.² Selective vulnerability of motor neurons likely arises from a combination of mechanisms, including protein misfolding, mitochondria dysfunction, oxidative damage, defective axonal transport, excitoxicity, insufficient growth factor signaling and inflammation. Strenuous physical activity in the form of heavy labor or competitive athletics has been reported to increase the risk of ALS, but it is still highly controversial.³

Unfortunately, there is no known cure for ALS. The prognosis is death within three to five years of the initial diagnosis although there are some cases of patients living more than 10 years after onset.² The most common cause of death is respiratory failure due to weakness and paralysis of the respiratory muscles.

According to the National Institute of Neurological Disorders and Stroke, an estimated 5,000 people are diagnosed with ALS each year.² It affects more than 20,000 Americans — men twice as often as women. It is slightly more common in individuals between 40 and 60 years of age, but older and younger people can also be affected.

The word “amyotrophic” is derived from Greek language: “a” means no or negative; “myo” refers to muscle; and “trophic” means nourishment. Therefore, amyotrophic means no muscle nourishment. “Lateral sclerosis” identifies the hardening of the lateral area of the spinal cord where portions of the nerve cells that activate motor neurons and stimulate muscles are located.¹

Upper motor neurons arise in the brain and spinal cord, extending to the muscles throughout the body (lower motor neurons). With ALS both upper and lower motor neurons may be affected. As the motor neurons degenerate or die, they stop sending messages to the corresponding muscles. Eventually, the muscles gradually weaken and atrophy until voluntary movement is lost.²

ALS does not affect mental capability. However, as the disease advances, oxygen deprivation could cause memory loss, uncoordination or even personality changes.^1,2 ALS does not affect a person’s ability to smell, taste, hear or touch. Patients usually maintain control of eye muscles and bladder and bowel functions. Since cognition and intellect are not affected, patients are usually fully aware of the disease progression and often become anxious or fall into depression.

There are three main types of ALS. The most common type is classic sporadic and accounts for 90% to 95% of ALS patients. There is no known family history of the disease with this type of ALS. The infrequent type ALS, also known as familial ALS, accounts for 5% to 10% of all cases. It is genetic or inherited and tends to manifest in individuals around 50 years old. There is a rare type of ALS called Mariana Island, which occurs in Chamorro Indian patients in Guam.¹

Diagnosis of ALS is made by a neurologist after completing a physical examination, medical history and neurologic testing. No specific test can identify ALS, but tests commonly used to assist on the diagnosis process include CT Scan, MRI, blood work, electromyogram (EMG), nerve conduction velocity and, occasionally, muscle biopsy.

Infectious diseases such as human immunodeficiency virus (HIV), human T-cell leukemia virus and Lyme disease can also cause symptoms that mimic ALS. Multiple sclerosis, post-polio syndrome, multifocal motor neuropathy and spinal muscular atrophy should be considered and ruled out before a diagnosis of ALS is made.²

ALS is unique when compared to other neurodegenerative conditions, because both lower and upper motor neurons are affected. Therefore, patients may present with lower motor neuron signs as well as upper motor neuron signs without involvement of other parts of the nervous system.^1,2 Difficulty performing fine motor skills caused by a clumsy hand is the initial symptom, or the symptom that makes patients aware that something may be wrong. It occurs in approximately one third of patients. Another common first symptom is weakness in the legs, especially the foot causing the patient to trip or stumble. Muscle cramping, generalized fatigue and fasciculation are also common early symptoms. Patients reporting speech or swallowing problems first with or without an affected extremity are less common. When muscles of speech and swallowing are the most affected, ALS is referred to as Bulbar type. The presentation of Bulbar type ALS is slightly different than when limbs are affected first.

Clinical Signs and Symptoms of ALS4
Upper Motorneuron Signs	Lower Motorneuron Signs	Bulbar Signs	Respiratory Signs and Symptoms	Other Signs and Symptoms
Spasticity	Muscle weakness	Dysarthria	Nocturnal respiratory difficulty	Fatigue
Hyperflexia	Muscle atrophy	Dysphagia	Exertional dyspnea	Weight loss
Pathological reflexes	Fasciculations	Sialorrhea	Accessory muscle overuse	Cachexia
	Hypoflexia	Pseudobulbar palsy	Paradoxical breathing	Tendon shortening
	hypotonicity			Joint contractures
	Muscle cramps

Unfortunately, some patients are misdiagnosed at early stages of the disease when those subtle and insidious weaknesses appear. They may be diagnosed with carpal tunnel syndrome, or nerve compression at the spinal level affecting the muscle involved, and those patients may be referred to physical therapy. Therefore, it is imperative that physical therapists recognize the signs and symptoms of ALS. Different from carpal tunnel and spinal stenosis, patients with ALS have intact sensation, except for some rare cases, and ALS normally does not cause pain. Muscles affected by ALS may quickly start showing signs of wasting and atrophy and do not respond to strength training as normal muscles would. The lack of pain, intact sensation, muscle weakness that does not respond as expected to exercise, and possible signs of problems with both upper and lower motor neurons should be a red flag for the treating therapist and a differential diagnosis from conditions other than ALS.

When patients start noticing that something is not right, ALS may have been present for some time. Lost or damaged nerve cells are compensated by nerve cells that remain functioning. Therefore, symptoms may remain unnoticeable until there is significant weakness in a body part that is affecting function (e.g., grasping or walking). Another distinctive sign of ALS is one side of the body is usually more affected than the other in the early stages of the disease. Symptoms begin in one area and then spread to adjacent body parts without following a particular order or pattern. For example, a patient who has weakness in the right hand as an initial symptom will not necessarily have the muscles of the right elbow or right foot affected next; weakness may strike the left side. By the same token, a patient with initial bulbar symptoms may progress into the disease with only bulbar symptoms (dysarthria, difficulty swallowing) then present with diaphragm weakness without having weakness in the extremities. If you interview 20 patients with ALS, each one is likely to have a different story about their first signs and symptoms and the disease progression.

Stages

Each patient has his or her individual onset, presentation and progression of symptoms, making it difficult to categorize patients, so PTs normally don’t classify patients with ALS into stages. However, during the late 1970s and early 1980s, authors Sinaki and Mulder described the most common course of ALS in six stages which are still well known today:^5,6

• Stage I — Mild weakness, fatigue
• Stage II — Moderate weakness, requires assistive devices and adaptive equipment
• Stage III — Severe weakness, mild to moderate functional limitations, but remains ambulatory
• Stage IV — Severe weakness uses wheelchair
• Stage V — Progressive weakness, impaired bed mobility and transfers
• Stage VI — Bedbound, performs ADLs with maximal assistance

The stages should be used as a guide or as a quick way to document patient’s status and to improve communication among healthcare professionals. It should not be used to predict the pathway of the disease. Some patients may closely follow the stages progression as listed but it illustrates only one pattern of presentation. Some patients may have severe weakness in the upper extremities not showing any lower extremity weakness far into the disease, if at all. Also, it is important to note that patients with Bulbar onset are the most unlikely to follow the disease progression according to the stages. Those patients could be terminal, having the diaphragm and muscles of respiration heavily impacted but still have muscle strength on the lower extremities to stand up if needed. Their main limitations are those caused by the severe compromise of the respiratory muscles, so even though the motor neurons related to the lower extremities may have being intact preserving muscles strength in the area, those patients may not have the respiratory capacity to tolerate walking or standing for long — not because of actual lack of strength on lower extremity muscles but because of respiratory insufficiency and heavy fatigue.

It is important to acknowledge the existence of staging for ALS, and the physical therapist who treats this patient population should be familiar with it, but by no means use it exclusively. The physical therapist should keep in mind the highly variable presentation of ALS.

Rating Scale

The Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) is an instrument for evaluating the functional status of patients with amyotrophic lateral sclerosis. It can be used to monitor functional change in a patient over time. It shows close agreement with objective measures of muscle strength and pulmonary function, good construct validity, is sensitive to change in the patient's condition, and it shows test-retest reliability and is consistent.^7,8

Amyotrophic Lateral Sclerosis Functional Rating Scale
Domain	Level of Functional Impairment	Score
Speech	4 - Normal speech processes 3 - Detectable speech disturbance 2 - Intelligible with repeating 1 - Speech combined with non-vocal communication 0 - Loss of useful speech
Salivation	4 - Normal 3 - Slight but definite excess of saliva in mouth; may have nighttime drooling 2 - Moderately excessive saliva; may have minimal drooling 1 - Marked excess of saliva with some drooling 0 - Marked drooling; requires constant tissue or handkerchief
Swallowing	4 - Normal eating habits 3 - Early eating problems; occasional choking 2 - Dietary consistency changes 1 - Needs supplemental tube feeding 0 - NPO (exclusively parenteral or enteral feeding)
Handwriting	4 - Normal 3 - Slow or sloppy; all words are legible 2 - Not all words are legible 1 - Able to grip pen but unable to write 0 - Unable to grip pen
Cutting Food	4 - Normal 3 - Somewhat slow and clumsy, but no help needed 2 - Can cut most foods, although clumsy and slow; some help needed 1 - Food must be cut by someone, but can still feed slowly 0 - Needs to be fed
Dressing and Hygiene	4 - Normal function 3 - Independent and complete self-care with effort or decreased efficiency 2 - Intermittent assistance or substitute methods 1 - Needs attendant for self-care 0 - Total dependence
Turning in Bed	4 - Normal 3 - Somewhat slow and clumsy, but no help needed 2 - Can turn alone or adjust sheets, but with great difficulty 1 - Can initiate, but not turn or adjust sheets alone 0 - Helpless
Walking	4 - Normal 3 - Early ambulation difficulties 2 - Walks with assistance 1 - Non-ambulatory functional movement only 0 - No purposeful leg movement
Climbing Stairs	4 - Normal 3 - Slow 2 - Mild unsteadiness or fatigue 1 - Needs assistance 0 - Cannot do
Dyspnea (Shortness of Breath)	4 - None 3 - Occurs when walking 2 - Occurs with one or more of the following:  eating, bathing, dressing (ADL) 1 - Occurs at rest, difficulty breathing when either sitting or lying 0 - Significant difficulty, considering using mechanical respiratory support
Orthopnea (Difficulty Sleeping)	4 - None 3 - Some difficulty sleeping at night due to shortness of breath; does not routinely use more than two pillows 2 - Needs extra pillow in order to sleep (more than two) 1 - Can only sleep sitting up 0 - Unable to sleep
Respiratory Insufficiency	4 - None 3 - Intermittent use of BiPAP 2 - Continuous use of BiPAP 1 - Continuous sue of BiPAP during night and day 0 - Invasive mechanical ventilation by intubation or tracheostomy
Total Score
ALSFRS = SUM (points for all 10 measures) Interpretation: • Minimum score: 0 • Maximum score: 40 • The higher the score the more function is retained.

ALS Management — A Multidisciplinary Approach

ALS is a fast, progressive disease that affects many systems, so changes and decline in function can happen quickly. These rapid changes can overwhelm patients and their family members who often have many questions, daily struggles and need support and guidance.

It is believed that this supportive care is best provided by multidisciplinary team of trained healthcare professionals, such as physicians, nurses, social workers, psychologists, physical, occupational and speech therapists, and nutritionists. These specialized teams can work together with patients and caregivers to design an individualized plan of care, make recommendations and answer questions accordingly.^1,2

As the disease progresses, mobility becomes harder, so it is convenient to go to a multidisciplinary clinic appointment and be seen by different specialists — all in one location. Most ALS clinics see patients every six months, and specialists make themselves available via phone and e-mail in between visits. Specialists from a multidisciplinary clinic usually follow patients through the disease progression — from diagnosis to the end, creating an important sense of security to the patient.

Studies have found that patients who received care at a multidisciplinary clinic have improved survival rate than those attending a regular neurology appointment.^9,10

Each specialist is integral in the care of the ALS patient and family members, has specific functions within the team, and will weigh in on different aspects of the patient’s care. Physicians manage the overall case and can prescribe medications to help reduce fatigue, ease muscle cramp, control spasticity, and reduce excess saliva and phlegm. Drugs can also assist patients with pain, depression, sleep disturbances and constipation. Riluzol (Rilutek) is a medication that inhibits glutamate release and antagonizes glutamate receptor. Clinical trials have shown that rilutek prolongs survival by about three months.^11,12 Physicians who are involved in research can also screen patients for clinical trials and educate patients on the newest discoveries and findings, which promotes hope.

Nurses working with physicians oversee medications  and assess respiratory status, skin integrity, and bowel and bladder function. Nurses and physicians can answer questions about feeding tubes and ventilators when patients are candidates for them.

Psychologists can screen for depression in patients and family members, offer counseling, and provide patients with relaxation and coping techniques. Social workers can guide patients to available resources in the community, such as support groups and together with the physician, recommend hospice care when the time arrives. Social workers can also help patients understand their insurance benefits for medical equipment that they may need, such as a hospital bed and supplemental oxygen. Nutritionists work closely with speech therapists to make sure patients who are having difficulty swallowing are eating the appropriate food to maintain good body weight.

Speech therapists have their hands full especially with patients who present with bulbar symptoms. As patients begin to deteriorate, STs need to assess swallowing ability and make recommendations for the correct food consistency. They also can recommend a modified barium test and make recommendations for a feeding tube when swallowing is severely compromised. When patients become dysarthric, STs recommend alternative communication devices — from pen and paper, to communication boards to fancy computer technology that works with just eye gaze.

Occupational therapists are fundamental in the treatment of ALS. OTs often have their creativity challenged and must be extremely knowledgeable of adaptive equipment available to accommodate for patients quick loss of function. Some of the adaptive equipment recommended are key holders, utensils with an easier grip, jar openers, electric tooth brush, dressing devices, among others. OTs give tips on energy conservation techniques and also make recommendations for adaptations at home and work such as ramps and grab bars. The more the disease progresses, the more PTs and OTs work hand by hand in an effort to maintain patient’s independence. Both disciplines can make recommendations for transfers techniques (patients often use a lift at later stages), recommendations to ease bed mobility — rails, trapeze, and both must perform care giver training. Both OTs and PTs can assess for the need and evaluate patients for a power wheelchair.¹

A power wheelchair is an important aspect of ALS care and should be recommended by a skilled and experienced PT or OT. Some patients may resist the idea of having a power wheelchair because they feel that they are succumbing to the disease. Therapists should respect patient’s decisions, but also emphasize that a power wheelchair would highly improve their independence and comfort. Therapists may want to recommend and start the process of getting a power wheelchair early because of the rapid progression of ALS, even when the patient is still ambulatory.

To get a power wheelchair, a physician must do a “face-to-face” exam stating that the patient is safe to operate a the wheelchair, has difficulty moving around the house and performing activities of daily living. Then, trained OTs or PTs perform a power mobility evaluation and choose the best option for the patient.¹

Medicare will cover 80% for “mobility assistive equipment,” or a manual wheelchair, scooter or power wheelchair once every five years.¹ Therefore, it is recommended that patients who have ALS and are under Medicare use this benefit to get a power wheelchair that is fully equipped — tilt and space, recliner, capability to change the joystick to head array or sip and puff control, ventilator support, for their needs anticipating the progression of the disease. A scooter or manual wheelchair may assist the patient early into the disease when the patient has good trunk control, good use of hands and can transfer fairly easily. However, they may not serve the patient in the later stages of the disease. So the patient who used Medicare benefits to get a manual wheelchair or scooter and does not have the financial means to afford a power wheelchair may get stuck with a mobility device that they cannot use anymore.

The Role of the Physical Therapist

There are probably no other conditions or diseases where there has been so much controversy and debate surrounding the issue of strength training. Sinaki did not advocate any vigorous exercise for individuals with ALS, stating that, “in most patients, no exercise other than that inherent in everyday ambulation activities is indicated.”^5,6 His rational was to avoid what is called “over use fatigue,” based from the evidence of patients with other neuromuscular diseases having permanent loss of force in weakened, denervated muscles when put under highly repetitive resistance exercises. A marked reduction in activity level secondary to ALS, however, can lead to cardiovascular deconditioning and disuse weakness beyond the amount caused by the disease.

The risks of overuse vs. the complications of underuse and at what intensity should exercise be performed, if at all, have been the topic of many studies. A growing number of studies demonstrate that moderate exercise is beneficial in ameliorating disease symptoms and improving functionality.^11,13 Some of those studies were performed on mice models.

Carreras studied the effect of high and moderate exercise levels on body weight, motor performance and motor neuron counts in the ventral horns of mice with a familial type of ALS.³ They found that moderate exercise delayed the onset of motor deficit by more than a week. High-intensity exercises hastened the onset of motor performance deficits. A deleterious effect of high-intensity exercise was also reported by Mahoney on mice with ALS running on a treadmill.

Deforges compared the efficiency of a swimming-based training, a high-frequency and amplitude that recruited fast motor units, and of a moderate running-based training that preferentially triggers the slow motor units in an ALS mouse model.¹² They found that swimming induced benefits sustained the motor function and increased the ALS mouse life span. The extent of this positive effect is one of the highest among those induced by any therapeutic strategy in ALS. Based on the evidence, there is some consensus that moderate exercise for patients who are on the initial stages of the disease and have the breathing capacity to tolerate it is better than high-intensity exercises, which should be avoided. Swimming is beneficial, so aquatic physical therapy should be incorporated into treatment whenever possible.

Despite the positive results found in the latest studies, it is still unknown whether exercises will increase muscle strength in patients with ALS. Actually, many experts doubt that it is possible.² Therefore, it is recommended that PTs should refrain from making goals to improve muscle strength in this patient population.

Moderate-intensity exercise described by the literature should be performed with extreme caution, and it seems that not every patient will tolerate it. If the patient experiences cramps, reports fatigue or feels weaker after exercising, exercise should be stopped and the intensity readjusted. Extreme prudence should be used when using dumbbells. Light weights are preferred and only muscles with more than normal strength (able to move without effort against gravity) should be worked on with a dumbbell. Therapists should discontinue the use of dumbbells or decrease the weight if fasciculations are observed. As mentioned above, it has not been shown that there will be muscle strength improvements, so weights should be used as an attempt to maintain strength.

Cardiovascular exercising such as walking or cycling should also be performed with caution and not to the point of fatigue. Patients should be educated that they should avoid fatigue and stop exercising before they reach that point. Intervals such as two to five minutes exercising and five minutes rest seem to be indicated. Both cardiovascular and strength training should be only performed by patients who have normal strength in most muscle groups and, most important, have diaphragm and respiratory capacity to tolerate it. Excessive use of accessory muscles or heavy breathing should be avoided. Therapists could monitor breathing status with a pulse oximeter or have patients rate their fatigue level using the modified Borg Scale.

PTs should be creative and make recommendations for exercising according to the patient’s likes. A brief walk with a loved one, playing with the dog, gardening, or just walking up a flight of stairs can be considered as exercise. If the patient is in later stages of the disease or cannot tolerate active range of motion (AROM), or cardiovascular exercise, focus should be on passive range of motion (PROM) and stretching. As muscles lose strength there is potentially a loss of ROM at joints, especially the shoulders. Improving ability to transfer with modifications, such as using a sliding board is an appropriate goal. Because of the rapid progression of the disease, caregiver involvement and training should be started as soon as possible. Physical therapists can make goals for the caregiver to become independent and safe with transfers and assist or perform in a home exercise program (i.e. stretching). 

Patients may arrive for PT services already aware of the diagnosis and the prognosis of the disease because it was either discussed with the physician or they informed themselves through literature or the Internet. Others may have chosen to not know much and have taken a “little by little” approach. Being diagnosed with ALS is extremely difficult to accept and to cope with for both the patient and family members. Physical therapists dealing with this patient population must understand that patients and family members may go through denial, anger and depression. A tactful therapist will realize if a patient wants to know as much as possible about the disease and talk openly about it, and provide the needed information. If the patient is not ready or prefers not to discuss it, the therapist should make him or herself available, and attempt to build trust and make the patient feel comfortable.

The perfect treatment strategy for patients with ALS has yet to be found, but the consensus is that the most important aspect of treating patients with ALS is to improve quality of life and to maintain independence for as long as possible. When patient’s independence is compromised despite the use of adaptive equipment and innovative recommendations from OTs, focus should be placed on the caregiver.

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