Amyotrophic Lateral Sclerosis: A Spinal-Onset Case Study

Original Editor -Hannah Perreault

Top Contributors - Jessie Fleming

Abstract[edit | edit source]

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive neurological disorder that affects voluntary muscle movement[1]. Specifically, upper and lower motor neurons are destroyed which results in various devastating symptoms such as muscle weakness, speech impairments, and swallowing difficulties[1]. Patients die on average 3-5 years after symptoms onset due to respiratory failure[1]. The current cause and cure remain unknown. In this fictional case study, a 70-year-old male has been diagnosed with the spinal-onset subtype of ALS six months prior. Client characteristics, subjective and objective examination findings, and a clinical hypothesis are documented throughout the case study. Additionally, a potential physiotherapy intervention is outlined in detail using the latest evidence based research, including verified outcome measures for this population. Primary patient-centred goals include the maintenance of mobility, strength, and participation in meaningful activities despite living with a progressive disease. Throughout this case study, the role of physiotherapist's and the importance of a strong inter-disciplinary team is highlighted in the management of ALS.

Introduction[edit | edit source]

Diagnosis

ALS is not easily diagnosed as there is not a single test or biologic marker for ALS that can be used. ALS is often a diagnosis of exclusion, meaning that individuals with its clinical presentation undergo a series of diagnostic tests, with the aim of gathering information to support the ALS diagnosis and ruling out other conditions[2]. This process obtaining a diagnosis confirmation often takes 8-15 months[2].

The diagnostic tests that are included are various muscle and imaging tests such as electromyography (detects electrical activity of muscle fibres), nerve conduction velocity studies (assesses nerves ability to send a signal), muscle and nerve biopsies, and neuroimaging studies[3]. Clinics depend on the Airlie House criteria (El Escorial revised criteria) using Awaji-shima criteria to confirm an ALS diagnosis. From the criteria, an ALS diagnosis requires[4]:

  1. the presence of evidence of LMN degeneration by clinical, electrophysiological or neuropathological examination
  2. the presence of UMN degeneration by clinical examination
  3. the presence of progressive spread of symptoms or signs within a region or other regions, as determined by history, clinical examination or electrophysiological tests, and
  4. an absence of electrophysiological or pathological evidence of other disease processes that might explain the observed clinical and electrophysiological signs.

There are 3 diagnostic categories: definite ALS, probable ALS, and possible ALS. The following criterion to be placed in each of the categories are as follows[4]:

  • Definite ALS: clinical or electrophysiological evidence by the presence of LMN as well as UMN signs in the bulbar region and at least two spinal regions or the presence of LMN and UMN signs in three spinal regions
  • Probable ALS: clinical or electrophysiological evidence by LMN and UMN signs in at least two regions with some UMN signs necessarily rostral to the LMN signs
  • Possible ALS: clinical or electrophysiological signs of UMN or LMN dysfunction in only one region or UMN signs alone in two or more regions or LMN rostral to UMN signs

Client Characterstics[edit | edit source]

Figure 1

70 year old, right hand dominant, caucasian male named Lou Gherig. Lives with his wife and adult children in a two storey home on the west side of Kingston. Retired twenty years ago after a successful career in professional baseball. Patient was diagnosed six months ago with amyotrophic lateral sclerosis by a neurologist at KGH. Lou presented with both upper and lower motor neuron deficits. Specifically, Lou suffers from the limb / spinal onset phenotype of ALS. He was prescribed Riluzole medication which has the potential to increase lifespan by several months[5]. He does not present with any comorbidities other than hypertension. During the initial physiotherapy assessment, it was noted that Lou has progressively worsening weakness in his upper and lower extremities. Six main problems that have been identified include; muscle cramping, mild spasticity in the upper extremities, decreased balance, inability to manage stairs independently, struggling to walk his large dog and not being able to partake in painting like he used to, due to fatigue and dyspnea when engaging in activity. The physiotherapy diagnosis indicates decreased overall function due to generalized muscle weakness in the distal extremities. Body structure, activities, and participation have all been impaired. Given that Lou was previously active, has a supportive family at home, and is financially stable, it is expected that physiotherapy will be able to minimize the impairment from ALS and maintain as much function as possible. However, Lou has been experiencing some depressive feelings after his diagnosis, is not motivated to complete rehabilitation, and has a fear of falling. These factors will be barriers in terms of prognosis.

Examination Findings[edit | edit source]

Clinical Hypothesis[edit | edit source]

Intervention[edit | edit source]

Outcome Measures[edit | edit source]

Body Structure and Function:[edit | edit source]

Modified Ashworth Scale (MAS)[edit | edit source]

The MAS is an assessment tool used to measure increases in muscle tone or spasticity, where the examiner applies a high velocity stretch to a joint or muscle and then grades the spasticity on an ordinal scale of 0-4[6].

Overall, measurements obtained with the Modified Ashworth Scale (MAS) have varying inter- and intra-rater reliability depending upon which limbs is being tested[7]. As a result of this varying reliability, the validity of the MAS must be questioned[7][8]. There is also a lack of research surrounding the validity and reliability of the MAS in the ALS population specifically[9]. Nonetheless, it is still the standard for clinical assessment of extreme spasticity[8], and can be considered a supplemental outcome measure for ALS[6].  

Muscle Strength Testing (MMT and MVIC)[edit | edit source]

Manual muscle testing (MMT) is a technique used to assess the strength of a given muscle that is being testing, where the assessor manually resists the action of that muscle and then scores the strength on a scale ranging from 0-5 (no strength being 0/5 and normal strength being 5/5). Maximal voluntary isometric contraction (MVIC) is another method to assess strength, however it requires specialized equipment and training[2]. In neuromuscular diseases, it is considered a standardized method to assess muscle strength and has been used extensively in individuals with ALS[10].

Compared to MMT, MVIC eliminates muscle length and velocity as factors in testing, allowing for the production of more reliable and valid data[2]. Much of the research surrounding MMT is varied, with reliability and validity dependent on which muscle is being tested[11]. MMT is also said to lack sensitivity[12]. However, a study examining MMT in comparison to MVIC stated that MMT was better able to detect progressive weakness in ALS, making it the favoured technique for this population[11]. It is important to note however, that in this study there were significantly more muscles tested using MMT, and therefore difference in detecting change was likely accounted for by the number of muscles sampled[11]. Nonetheless, MMT is still considered a core assessment tool[13]. Either technique can be used for strength testing, however MVIC requires specialized equipment that not all physiotherapists have access to.

Activity:[edit | edit source]

Berg Balance Scale (BBS)    [edit | edit source]

The BBS is used to assess balance and falls risk in older adults through a series of 14 items that include varying static and dynamic balance activities[14]. Each item is scored on a scale of 0-4, determined by the ability to perform a given activity[14].

The use of the BBS in the ALS population is not well cited in the literature, however its use in other neurological populations is better documented[15]. One study shares that the BBS demonstrates excellent internal consistency and reliability when used with individuals with chronic progressive neurological conditions, and is strongly recommended for that general group[16]. Its use in many older adult populations also demonstrate excellent inter and intra-rater reliability, and high specificity[14].  

6 Minute Walk Test (6MWT)[edit | edit source]

The 6MWT evaluates sub-maximal aerobic capacity or endurance by assessing the distance walked over the course of 6 minutes[17]. One study determined that the 6MWT is a valid measure of aerobic capacity in ambulatory patients with ALS, while another shares that the test demonstrates good responsiveness and reliability in a longitudinal setting with ALS[18][19]. Its use in chronic progressive neurological conditions as a whole is also strongly recommended, with evidence of excellent reliability[16].  

Nine Hole Peg Test (NHPT)[edit | edit source]

The NHPT is scored based on the time it takes to remove the nine pegs, one by one, from the holes on the board, place them into a container, and then one by one replace them into the holes on the board[20]. This test is used to examine hand dexterity and can be a good tool to follow dexterity progression in ALS[20].

While research is limited, this test has demonstrated high inter-rater reliability and is sensitive to patients with neuromuscular or musculoskeletal conditions[21]. In other populations such as multiple sclerosis, stroke and Parkinson's disease, this test has demonstrated excellent test-retest reliability, excellent inter-rater reliability, and validity varying between the different neurological conditions[22].

Participation:[edit | edit source]

Amyotrophic Lateral Sclerosis Functional Rating Scale revised (ALSFRS-R)[edit | edit source]

The ALSFRS-R is a 12-item scale addressing activities of daily living and global function in patients with ALS[23]. There are four specific domains that it addresses, including fine motor, gross motor, bulbar, and respiratory function[24]. For each item on the scale, patients can rate their abilities from 0 = unable to perform the task, to 4 = normal functioning[24]. This scale helps estimate a patient’s degree of functional impairment[23].

This test has excellent test-retest reliability, excellent inter and intra-rater reliability, excellent internal consistency, good construct validity, and is sensitive to change[24][23]. However, use of a total score from the scale (sum of each domain) shows weak factorial validity and poor unidimensionality, meaning the focus should be on reporting subscores from each domain instead[24]. Overall, the ALSFRS-R has also been shown to be an independent predictor of survival and a sensitive prognostic biomarker (specifically when examining the rate of change in the ALSFRS-R score over time)[24].

Referrals[edit | edit source]

Multidisciplinary teams are vital in the management of ALS, due to the progressive and widespread effect of the disorder on multiple body systems[25]. Thus, it is important to view patients with a holistic lens, taking into consideration how aspects aside from physical body systems (ie. Musculoskeletal, respiratory, etc.) can be greatly impacted, especially in conditions such as ALS. Likewise, as physiotherapists who strive to deliver client-centred care, the International Classification of Functioning, Disability, and Health (ICF) model forms the basis of assessment, treatment, and management methods[25]. Accordingly, in addition to seeing a physical therapist, Lou would benefit from being referred to other health care professionals including a respiratory therapist (RT), occupational therapist (OT), and dietitian, among others, to address both physical and cognitive complications associated with the condition[25].  

One of the major complications of ALS is respiratory insufficiency, including respiratory muscle weakness, ventilatory failure, and a decline in vital capacity [25]. This decline in respiratory functioning can progress to complications including truncated speech, dyspnea, fatigue, orthopnea, and inefficient breathing mechanics, and is the most frequent cause of death in ALS [25] [26]. Moreover, respiratory insufficiency is a strong predictor of quality of life due to its interference with routine and leisure daily activities. Thus, an important referral for Lou is to an RT. The importance of RTs in the management of ALS has been highlighted in various studies. For example, non-invasive ventilation (NIV), now considered the standard of care for respiratory-related complications in ALS, is a highly effective but under-utilized management strategy[26][27]. Its use has been associated with significant improvements in quality of life and survival rates and has added benefits when implemented early on, reinforcing the importance of Lou having an RT as part of his care team [28]. Even if Lou has yet to develop severe respiratory complications, it is never too early to adopt a proactive approach. Studies have found patients to be more compliant with NIV when an RT is part of the multidisciplinary clinic they attend, due to enhanced patient and caregiver education on its use and importance and the ability of the therapist to make individualized machine setting adjustments for patients, illustrating just one benefit of Lou seeing an RT[29]. In addition to implementing interventions such as NIV, RTs are important in the continual monitoring of respiratory function, such as evaluating forced vital capacity and vital capacity, to assess objective changes in status as well as patient-reported subjective symptoms, and treating them accordingly [30]. Thus, it seems reasonable to suggest that an important referral for Lou is to an RT, to minimize the lethal effects of respiratory dysfunction that are seen in ALS and maximize his quality of life for as long as possible.

Since there is currently no cure for ALS and it has a progressive course, OTs can serve as another key addition to the team involved in the care of individuals living with ALS [25]. An OT can help Lou maintain as much independence as possible for as long as possible by helping him find compensatory strategies for completing ADLs and leisure activities, modifying his home and work environments, and optimizing his use of and access to assistive devices. For example, an OT can help fit and educate Lou on using a robotic-assisted glove (RAG) device to help moderate the weakness he experiences, which is especially prevalent in his distal extremities[31]. Such a device will allow Lou to continue to use his hands in a natural manner, helping him retain functional independence and the ability to participate in hobbies such as painting[31]. Finding ways for Lou to continue to participate in activities he enjoys is highly beneficial for many reasons, one of which includes enhanced quality of life. Qualitative studies have highlighted that the struggle with integrating new and multiple assistive devices into everyday life hinders quality of life in individuals with ALS, because of issues such as accessibility and the fact that devices can change frequently and quickly as the disease progresses[32]. OTs can help patients navigate issues encountered with their new devices and help them adapt to the novel changes both physically and mentally. Having an OT within the multidisciplinary care team can also aid in setting practical and client-centered goals, which may enhance Lou's sense of autonomy and feelings of self-control, with the hopes of mitigating his feelings of depression[33]. Interestingly, RAG has also been found to induce neuroplastic changes in sensorimotor pathways and enhance subjective perceptions of performance in daily tasks in patients with ALS, lending further support for the beneficial effects of Lou seeing a professional who can manage assistive devices, such as an OT [31].

Because nutritional concerns, such as malnutrition and weight loss, are also common among those with ALS, another beneficial referral for Lou is to a dietitian[34]. In the management of ALS, dietitian's can improve the nutritional status of patients by providing accurate information and education on calorically sufficient diets, valuable supplements, food modifications to address chewing/swallowing difficulties, possible tube feeding methods, and overall safety of consuming and handling food[34]. Having Lou see a dietitian will help mitigate the progressively worsening factors that contribute to poor nutrition in individuals with ALS, and prevent complications such as excessive weight loss, muscle mass and strength loss, malnutrition, dehydration, choking, and aspiration[34][26]. Likewise, due to Lou’s hypertension, having a dietitian on his care team can help him make optimal decisions about the foods he consumes to ensure he feels as healthy as possible for as long as possible, while still enjoying what he likes. It is important to note that nutrition plays a large role in many other aspects of an individual's life, such as on their mood and cognition, in addition to physical body systems such as muscle mass. While it is true that weight loss in ALS is associated with a decreased survival rate, it is also associated with a reduction in quality of life, as malnutrition often leads to outcomes such as excessive fatigue, apathy, and depression, which hinders an individual's ability to engage in an enjoyable life[35]. Moreover, it has been noted that the problem of malnutrition is often overlooked in clinical practice, highlighting the importance of addressing this issue promptly in the case of Lou even if he has yet to show any observable impact of insufficient dietary intake [35]. Considering this and keeping the ICF model in mind, having Lou see a dietitian will not only help prevent the negative impact of nutritional problems on his physical bodily functioning, but can also help address the psychological and psychosocial problems that are often associated.

Referral Letter:

*Please note: this sample referral letter is directed toward Mr. Gherig's GP, for a formal referral to a respiratory therapist (RT).

To Dr. QueensU,

After a comprehensive physiotherapy assessment of Mr. Lou Gherig, whom you diagnosed with ALS, it is highly advised that he receive a referral to a respiratory therapist as well. Mr. Gherig would greatly benefit from seeing a respiratory therapist to assess, monitor, and mitigate the adverse effects of respiratory insufficiency that are starting to appear and will continue to worsen rapidly. Having Mr. Gherig see a respiratory therapist will allow me (lead physiotherapist) and the rest of the multidisciplinary care team to focus on our specialities to ensure he receives the best possible care for every aspect of his condition.

Thank you for your time and consideration.

Sincerely,

PT858

https://www.youtube.com/watch?v=qNFk9cJqcF8

Discussion[edit | edit source]

Outcome Measures:

Each of the standardized outcome measures were chosen based on the patient’s identified problems. The MAS was selected to assess the patient’s spasticity as it is a well-known and widely used test, even though its use in ALS lacks research[9]. When examining the patient’s loss in muscle strength, two options were outlined. Both MMT and MVIC have their pros and cons, which is why we decided to include both of them and allow readers to make decisions based on this. In terms of our patients reported decline in balance, there are a number of tests options apart from the BBS, such as the Tinetti Performance Oriented Mobility Assessment (POMA) or the Functional Reach Test (FRT)[2]. The POMA could still be a great test to examine balance in a patient with ALS, however it is known to be more reliable in the early or mid-stages of ALS[36]. The FRT was not used because it only assesses one simple task (standing and reaching), while the BBS allows us to see balance in a variety of tasks which can be important when considering that ALS affects different parts of the body to different degrees and at different times. Our patient had also identified that he struggled to walk with his dog, so we decided to use the 6MWT as an objective, simple, and inexpensive measure of walking capacity for our patient[19]. To examine hand dexterity in relation to the patient’s difficulty with painting recently, we decided to use the NHPT as a quick, easy to administer test[21]. There are many other many other tests to examine hand dexterity or function, however, most also lack evidence surrounding their specific use with ALS[21]. Finally, we used the ALSFRS to gain a more global understanding of our patient and his impairments. This test is quick, requires no training, and is a great way to assess progression of disease or response to treatment over a period of time[24][23].

Self-study questions[edit | edit source]

References[edit | edit source]

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