Impaired mobility and activities of daily living

A properly fitted wheelchair not only improves a patient’s mobility but also prevents complications. Wheelchairs should have adequate lumbar support and appropriate cushioning to prevent pressure ulcers. A survey given to 42 patients who had ALS who used wheelchairs found that the most desirable wheelchair features provide extra comfort (supports for the head, neck, trunk, extremities) and improved maneuverability (lightweight frame, smaller wheelbase) . A power wheelchair, although expensive, can be justified because it helps prolong independent mobility for the patient and thus markedly improves quality of life . Pressure relief and proper positioning in bed are also important. An air or dense foam mattress is often necessary to provide good pressure relief. Foam wedges for proper positioning in bed can help to prevent pressure ulcers and contractures. Regular passive and active-assisted range of motion is critical in maintaining mobility and patient functional independence as long as possible. Ankle-foot orthoses with the ankle at neutral position may prolong ambulation and help avoid injury if there is unilateral or bilateral foot drop. Wheeled walkers or quad canes may also help, depending on the pattern of weakness.

Useful equipment to improve a patient’s functional independence includes hand-held showers, bathtub benches, grab bars, raised toilet seats, a hospital bed, commode chairs, activities of daily living aids, such as sock aid and grabbers, and wheelchair ramps. An occupational therapist can help define which, if any, of these devices will be useful to the patient. During an in-home evaluation, the occupational therapist can also help with coordinating architectural and in-home modifications to maximize a patient’s mobility and improve safety. Modifications may involve moving the patient’s bedroom to the ground floor, removing any rugs or floor coverings, relocating furniture, installing grab bars, or covering slippery floors.

Bowel and bladder management

Sphincter function is generally spared in ALS, thus incontinence is usually not a significant problem . When incontinence is an issue, it is most commonly because of immobility rather than lack of sphincter control. Urinary urgency may also be the result of the lack of frontal inhibition over micturition centers . Drinking large amounts of fluids after dinner or before bed should be avoided. If the problem persists, condom catheters (for men) and absorbent undergarments are other options that may be used. Pseudoephedrine, a sympathomimetic agent, may help increase urinary outlet sphincter tone. Increased blood pressure and urinary retention can result, however, and should be monitored when using this medication, especially in men who have prostate enlargement or use anticholinergic agents. For patients who have urgency, oxybutynin may be of value to help patients regain continence. Indwelling urinary catheters should be avoided because of risk for urinary tract infection but may be necessary later in the course of the disease when mobility becomes a significant problem. In a recent study, 9 of 14 patients who had ALS showed markedly delayed colonic transit times compared with healthy controls.

The colonic transit in ALS patients was significantly delayed, which could be a result of inadequate fluid intake or denervation of the colonic nervous system . Patients should maintain a regular bowel program with intake of fiber/bulking agents and adequate fluids. Suppositories, stool softeners, and mini-enemas may be used as needed.

Strengthening

Skeletal muscle weakness is the most prominent clinical feature of adult motor neuron disease, including ALS. It is also the ultimate cause of most clinical problems associated with these diseases. Patients who have ALS present with weakness in the following distribution: legs (41%), arms (34%), bulbar muscles (24%), generalized weakness (1%), respiratory muscles: 1 of 613 patients . The most common presenting complaint of patients is focal weakness (60%). Rarely, patients present with generalized weakness or cramps, and rarely generalized fasciculations or respiratory failure . Head drop is a manifestation of muscle weakness commonly seen in ALS, although not usually at presentation. Although it can be seen in other neuromuscular disorders, ALS and myasthenia gravis are the two most common causes of head drop, as a result of cervical paraspinal extensor muscular weakness. A hard Philadelphia or Headmaster-type cervical collar may be helpful to maintain posture and control pain.

There are no well-controlled studies examining the efficacy of exercise in this population. Aitkens and colleagues showed that in slowly progressive neuromuscular diseases, a 12-week moderate-resistance (30% of maximum isometric force) exercise program resulted in strength gains ranging from 4% to 20% without any notable deleterious effects. In the same population, however, a 12-week high-resistance (training at the maximum weight a subject could lift 12 times) exercise program did not show any additional benefit compared with the moderate-resistance program and there was evidence of overwork weakness in some of the subjects . A recent study by Dal Bello-Haas and colleagues randomized 27 patients who had ALS into a resistance exercise group verses a usual care group who completed a daily stretching routine. After 6 months, the resistance exercise group performed better on the ALS Functional Rating Scale and physical function subscale of the SF-36. Although there are no conclusive data to support it, ALS patients are advised to refrain from exercising too vigorously or to the point of exhaustion, for fear of overwork weakness and further muscle damage and dysfunction . Patients participating in an exercise program should be cautioned of the warning signs of overwork weakness, which include feeling weaker rather than stronger within 30 minutes postexercise or excessive muscle soreness 24 to 48 hours following exercise. Other warning signs include severe muscle cramping, heaviness in the extremities, and prolonged shortness of breath .

Early intervention with gentle, low-impact aerobic exercise, such as walking, swimming/pool exercise, and stationary bicycling, not only improves cardiovascular performance but also increases muscle efficiency to help fight fatigue . Fatigue in ALS is multifactorial and is believed to be due in part to impaired muscular activation . Other contributing factors include generalized deconditioning resulting from immobility and depression . Benefits of aerobic exercise include not only improved physical function but also an improved sense of well-being and pain tolerance.

Spasticity

Neurologic examination in patients suspected of having ALS is focused on searching for evidence of upper motor neuron (UMN) and lower motor neuron (LMN) abnormalities. UMN examination findings include spasticity and hyperreflexia, indicated by abnormal spread of reflexes and clonus. Brisk reflexes despite muscle atrophy can be present and may serve as a clue to LMN loss. UMN pathology can be confirmed by the presence of pathologic reflexes, such as the Babinski sign, Hoffman sign, and brisk jaw jerk. In the case of toe extensor paralysis, visualization of the tensor fascia lata contracting in attempts to elicit a Babinski response is equivalent to great toe extension. Additionally, it has been suggested that the corneomandibular reflex may be a more sensitive and specific indicator of UMN pathology in the bulbar region than the jaw jerk . Gag reflex and jaw jerk should also be assessed to look for UMN dysfunction. Typically, UMN pathology results in spasticity, which produces a loss of dexterity or a feeling of stiffness in the limbs. Patients may also complain of weakness caused by spasticity resulting from disinhibition of brainstem control of the vestibulospinal and reticulospinal tracts, which originate in the motor cortex.

Spasticity is a common feature encountered in ALS and likely results from dysfunction of the motor cortex and the spinal cord. It can significantly complicate the problems created by weakness. Baclofen, a γ-aminobutyric acid (GABA) analog, facilitates motor neuron inhibition at the spinal cord and is the medication of choice. Initial dose is 5 to 10 mg two to three times a day and can be titrated up to 20 mg four times a day. Higher doses, up to 160 mg per day, are necessary at times but side effects of weakness, fatigue, and sedation can be problematic. Tizanidine, a relatively new agent with α2-agonist properties, has also been effective in spasticity management. Its mechanism of action is believed to be through the inhibition of excitatory interneurons. The dosing regimen ranges from 4 to 8 mg three to four times a day, with a similar side effect profile as baclofen. Benzodiazepines can be used but can cause respiratory depression and somnolence. Dantrolene, another drug used in the management of spasticity, acts by blocking Ca++ release in the sarcoplasmic reticulum. It is an effective medication to reduce muscle tone but its side effect of generalized weakness makes it a less desirable option in ALS. If patients continue to have a significant amount of spasticity, especially of the lower extremities, an intrathecal baclofen pump is useful in reducing spasticity and pain . A combination of positional splinting and slow, frequent, sustained stretching of particularly symptomatic muscle groups, such as the gastrocnemius, can be effective in helping to reduce spasticity.

Muscle cramps

Muscle cramps may occur anywhere in the body, including the thighs, arms, and abdomen. Cramping of abdominal or other trunk muscles is unusual in other conditions and a diagnosis of ALS must be considered in these cases. Quinine sulfate taken orally can be helpful for symptomatic relief in addition to a daily stretching program that would lengthen the shortened, cramping muscle.

Dysphagia and dysarthria

Signs and symptoms suggesting bulbar muscle weakness include dysarthria, dysphagia, drooling, and aspiration. The drooling represents inability to manage secretions secondary to dysphagia. These signs and symptoms may be caused by UMN or LMN dysfunction involving the bulbar muscles. Patients who have ALS may have a mixed spastic-flaccid form of dysarthria. Signs of spastic dysarthria, indicating UMN pathology, include a strained and strangled quality of speech, with reduced rate, low pitch, imprecise consonant pronunciation, vowel distortion, and breaks in pitch. LMN dysfunction creates a flaccid dysarthria in which speech has a nasal or wet quality; pitch and intensity are monotone, phrases are abnormally short, and inspiration is audible. Complaints of difficulty chewing and swallowing and nasal regurgitation or coughing when drinking liquids indicate dysphagia.

Clinical signs and symptoms of dysarthria and dysphagia in a patient who has motor neuron disease may closely parallel one another . Dysarthria in ALS is difficult to treat. Conventional articulation training is ineffective; however, some adaptive strategies taught by a speech-language therapist may be useful . These include slowing the speech rate, increasing the precision of speech production, and decreasing background noise.

As the disease progresses, various communicative aids may play an ever-increasing role. Communication through an alphabet or word board works well early on when patients still have reasonable arm function. Binary command and yes/no systems using eye gaze can be particularly useful for a patient using mechanical ventilation. With advances in microprocessor technologies and computer programming, much improvement has been gained in speech synthesizers or multipurpose, multiaccess, computer-based augmentative communication systems. Caregivers of patients report that augmentative and alternative communication devices are helpful to stay connected, respond to patients’ needs, and discuss complex important issues, including medical information . Although expensive, these devices can greatly enhance the patient’s ability to communicate when they can no longer phonate or write. These types of devices may often be either borrowed or rented from Assistive Technology Centers. For those patients who have no voluntary motor control for communication, brain–computer interfaces are being researched. These interfaces use EEG signals in which patients produce positive or negative shifts in cortical potentials that are sent to a communication device .

In addition, patients who have ALS and bulbar symptoms often have difficulty managing their oral secretions. Medications with strong anticholinergic effects, including some of the tricyclic antidepressants and glycopyrrolate, can be effective at drying up secretions. Transdermal scopolamine patches may also be effective in this setting. In severe cases, a transtympanic neurectomy (blocking the parasympathetic innervation of the salivary glands) or Stensen duct ligation may be tried but these procedures have had limited success. Radiation or botulinum toxins delivered to the salivary glands are other options that may be helpful, but are hampered by complications .

Changes in voice patterns and persistent coughing after swallowing liquids are two early signs of dysphagia in ALS. A speech-language pathologist should be consulted early for clinical swallowing evaluations and recommendations on dietary modifications. These modifications include thickening liquids and preparing food that forms easily into a bolus. A modified barium swallow or fiberoptic endoscopic examination of swallowing safety is needed when a patient has a history of having more difficulty with solids as opposed to liquids. These examinations are useful not only for accurately determining the presence of aspiration but also for providing a guide as to which food texture is safe for the patient. A thorough history and physical examination can give the clinician enough information to assess risk for aspiration and determine the type of study needed . Cricopharyngeal myotomy may be helpful in a select group of patients who have dysfunction of this particular muscle, but most are unlikely to benefit .

Mood symptoms

End-of-life decision making and palliative care

Although ALS is a fatal condition, it may take many years before a patient who has ALS succumbs to its effects. Poor prognostic factors include older age at onset of symptoms, earlier bulbar or pulmonary dysfunction, short time lag from symptom onset to diagnosis, and predominance of LMN findings at the time of diagnosis . More women present with bulbar symptoms and they also seem to have a more rapid progression . Although young men who have ALS may have a longer life expectancy, the overall life expectancy following diagnosis remains poor. Median 50% survival is 2.5 years for limb-onset and 1 year for bulbar-onset ALS. The expected survival rates may vary depending on the patient’s decision regarding the use of mechanical ventilation and feeding tubes. The overall survival rate remains low, however, and is only 28% by 5 years postdiagnosis . In the process, ALS contributes to more and more debility for the patient and leads to important ethical and humanitarian issues. Patients who have ALS may have a great deal of time to think of their impending death and also the various decisions they need to make at different stages of their disease.

It is imperative that a social worker is involved early following the diagnosis to aid in the various decisions facing the patient. One such important choice is the decision regarding durable power of attorney. A living will may also be drafted in regard to the patient’s wishes for the extent of medical intervention . As a patient enters hospice-level care these issues take on a greater importance. Even though a patient may have accepted the eventual death resulting from ALS, it is often difficult for a patient to accept hospice care, because this implies that the disease has entered its terminal stage . Medicare guidelines for entry into hospice include rapid progression of ALS and one of the following: critically impaired breathing capacity, critical nutritional impairment, or at least one life-threatening complication. These include recurrent aspiration pneumonia, decubitus ulcers, or recurrent fever after antibiotics . It is therefore especially important at these times to not only be sensitive to a patient’s needs but also assist the patient in making practical decisions. It is also important for patients to be referred to a support group early through the MDA and the ALS associations. The importance of support groups should not be underestimated because they can provide not only psychologic support but also further education and serve as a resource for problem solving and recycling of equipment, such as modified beds, lift devices, and communication equipment, among other things.

Modern medicine is continually advancing and has numerous interventions that can prolong life by artificial means. Although there are many medical interventions that can be provided, the physician should be sensitive to the possibility that a patient who has advanced ALS may reject such interventions. It is the patient, and not the physician, who determines whether to initiate life-sustaining therapy, artificial devices, or interventions that compensate for the failing organ or system to prevent death . Mechanical ventilation, artificial hydration, and nutritional supports are probably the most obvious examples. Both legally and ethically, a competent patient has the right to refuse any prescribed intervention or treatment.

The physician and nurse’s role is to thoroughly explain the consequences of the patient’s decision and to foster and respect the patient’s autonomy. This does not extend to the practice of physician-assisted suicide, however. It is an illegal act raising severe ethical concerns, which in itself deserves volumes, and cannot be adequately discussed in this article. According to a recent study, approximately 56% of patients who had ALS surveyed in Washington and Oregon would consider this alternative . In the Netherlands, 20% of patients who had ALS chose to end their lives through euthanasia or physician-assisted suicide . The stunning number of patients who would consider physician-assisted suicide is perhaps an indication that the quality of care in the final stages of ALS may be inadequate.

Studies indicate that a lack of effective communication between a physician and a patient, and poor quality of life for the patient as perceived by the physician, may have a negative impact on the patient’s quality of life . It takes a great deal of time to explain end-of-life issues, including available treatment options and choices. Without this investment of time by the physician, a patient may be unaware of the available services and choices. An appropriate level of care for ALS patients may change frequently and thus necessitates a close follow-up.

Even in the advanced stages of ALS, optimizing in-home care with hospice can maximize the quality of life for the remaining time in these patients. In general, however, in-home care is either underutilized or initiated too late . An effective hospice care plan provides an interdisciplinary team of professionals whose goal is to support the patient and the family through their remaining days together. It can provide invaluable psychologic, emotional, and spiritual support for the patient and the family in a familiar and comforting setting. The National Hospice Organization has provided guidelines for early entry into hospice for patients who have ALS . These guidelines require physicians to make an estimate of life expectancy for the patient, which is often difficult for patients who have ALS who may progress relatively slowly in the dying process. Despite the advantages that hospice care offers, many physicians are not fully aware of the different services it provides . Specific hospice care includes regular home visits by hospice nurses for medication management and delivery, assessment of pain control, skin and bowel care, and providing a progress report to physicians.