Amyotrophic Lateral Sclerosis (ALS): A Case Study

Original Editor - Kara Blair, Katie Milliere, Halle Pawson, Darcy Chassé, Nicholas Mutton, and Daniel Habashi as part of the Queen's University Neuromotor Function Project
Top Contributors - Darcy Chassé, Daniel Habashi, Kara Blair, Halle Pawson, Nicholas Mutton, Katie Milliere and Kim Jackson

Abstract

This fictional case study involves a 24-year-old male diagnosed with early-stage juvenile Amyotrophic Lateral Sclerosis (ALS) 6 months prior. This case study documents the subjective and objective findings from the patient’s initial physiotherapy assessment until 6 weeks post physiotherapy interventions. The case highlights many aspects that a physiotherapist (PT) may have to deal with when interacting with a juvenile ALS patient. For example, the wide range of possible signs and symptoms seen in the early stages, the various biopsychosocial aspects affected by ALS, and finally, the patient’s specific goals and the different intervention plans used to achieve those goals.

Introduction

Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease that involves the neurons responsible for controlling voluntary muscle movement. ALS most commonly appears between the ages of 55 to 75, but has the potential to impact individuals within any age group. In ALS, both the upper motor neurons and lower motor neurons degenerate, and therefore, stop sending signals to the muscles. This results in weakening of the muscles, twitching—known as fasciculations—and muscle wasting. The early symptoms usually involve muscle weakness, and eventually progresses to the inability to speak, eat, move, or breathe. Respiratory failure is the major cause of death in individuals with ALS, and usually occurs within 3 to 5 years from the onset of symptoms. (11). Approximately 70% of patients with ALS present with limb-onset ALS—weakness in the arms and legs—and the remaining patients present with bulbar-onset ALS, which manifests with dysarthria—motor speech disorder—and dysphagia—difficulty swallowing (12).  

The clinical presentation of ALS is not homogenous. There is considerable variability in the phenotypical expression of ALS, which is demonstrated throughout the literature. Jamorzik et. Al (2015) discusses a 68-year-old man who first presented with dysarthria in July 2012, and several months later began experiencing generalized fasciculations. A year later, the patient’s speech became more slurred, but he did not present with muscular atrophy or weakness. Clinical evaluations supported by electrophysiological and biochemical testing led to the diagnosis of bulbar-onset ALS (12). Conversely, Venizelos, Park & Fisher (2011) presented a case of a 57-year-old Caucasian male who began experiencing unexplained bilateral lower extremity weakness and fasciculations. Within five months, his lower extremity weakness progressed until he was unable to stand independently, and he also presented with muscular atrophy in the upper extremities, specifically in the intrinsic hand muscles. Despite being diagnosed with multiple other diseases, including chronic acquired demyelinated polyneuropathy (CIPD), the patient was later diagnosed with ALS and died one year after symptom onset (17). In addition, Majmudar, Wu, and Paganoni (2014) discussed a case involving a 45-year-old female patient who presented with an early-stage of ALS. The patient first began experiencing right leg and arm weakness, fatigue, and suffered from several falls while playing with her kids. The patient expressed having difficulty with activities involving fine motor control, such as cutting food and doing up buttons on clothing (22).  

Although there is no cure for ALS, riluzole is a medication that has been shown to be moderately effective at prolonging life by two to three months (15). Moreover, physiotherapy in conjunction with other forms of healthcare have been shown to be beneficial for symptom management, optimizing functional independence, and increasing quality of life in those with ALS; management for ALS should be tailored to the individual to meet their individual needs and goals (21). Majmudar et al. (2014) suggested that exercise, energy conservation techniques, stretching, and range of motion (ROM), as well as assistive devices for gait, may be appropriate for early-stage ALS. However, the individual should be monitored for signs of overexertion, excessive fatigue, and any increase in pain (22). Tsitkanou et al. (2019) demonstrated that both endurance and resistance training have an advantageous impact on quality of life, however, do not extend life expectancy (28).  

The purpose of this report is to create a realistic picture of a young individual diagnosed with early-stage ALS. A fictional case study will be used to illustrate the progressive nature of the disease, as well as outline the process of a physiotherapy assessment and likely findings for patients with ALS. Physiotherapy interventions for ALS, supported by the work of other healthcare professionals, focuses on maximizing patients’ mobility, respiratory function, independence, and quality of life. (9). Therefore, this report will also outline various physiotherapy interventions that have been successful for improving quality of life in patients with ALS. This case study was developed by integrating evidence-based research and clinical findings, for the purpose of educating other healthcare professionals on ALS and informing clinical decision making.

When taking on this project, we were aware that ALS is a very challenging condition, and much research is needed in order to fully understand the cause of the disease and develop a cure. However, an additional challenge we faced was developing a physiotherapy treatment plan that targeted the multitude of impairments experienced by those with ALS. This progressive disease can lead to impairments in balance, gait, dexterity, strength, and so on. Therefore, the requirement for a treatment plan to tackle the immense number of symptoms, as well as work to achieve patient specific goals, adds to the complexity of the disorder.  

Client Characteristics

Figure 1

A 24-year-old, R-hand dominant, Caucasian male named Jared Miller. Jared lives with his parents—Jane and James Miller—and his sister Jaya in Perth, Ontario. Jared was previously an athlete on his high school soccer team. After completing his undergraduate degree in Kinesiology at Queen's University, Jared hoped to obtain a doctorate degree in Dentistry. However, Jared unable able to pursue this career aspiration after being diagnosed with ALS 6-months ago. He first noticed changes in muscle strength, after falling several times on the soccer field, and expressing a general feeling of weakness. Since the onset of these initial symptoms, Jared has been experiencing ongoing muscle weakness, cramping and associated pain, and thus was referred to physiotherapy by a neurologist. Despite having been diagnosed with ALS, Jared has no comorbid conditions. (4)

Examination Findings

Subjective

Chief Concern

Feeling of general weakness, muscle cramping, and 4/10 pain in arms and legs. Additionally, Jared is concerned with his recent falls as it is limiting participation in work, hiking and navigating his environment.  

Patient Profile

24-year-old male with ALS. DOB: 1996/02/06

During the initial assessment the patient was friendly yet appeared to be saddened and of low spirit. Jared has done an abundance of research on ALS and was very focused on the poor prognosis associated with the disease. The patient reports feeling defeated due to a lack of available treatments for ALS and feeling as if he was a burden to his mother. Additionally, the patient communicated feelings as if his dreams were taken away from him. He explained that he stopped playing soccer as a result of increased cramping and weakness in his legs, as well as having difficulty breathing while running on the field. Jared stated that he misses both the physical and social aspect of playing soccer. His parents have noticed changes in Jared’s voice, but reported that Jared’s friends and other family members haven’t noticed much change. Jared explained that his body image has been impacted since his diagnosis, as he has seen noticeable changes in his muscle mass. With that said, Jared expressed being motivated to start physiotherapy. Jared hopes to improve his lower extremity strength and balance, in order to go on leisurely hikes with his parents.

History of Present Illness

One year ago, the patient noticed general weakness and cramping in his legs while playing soccer, which led to numerous falls on the field over several games. He spoke with his family doctor after 2 weeks of frequent falling and cramping. His family doctor referred him to a neurologist in Ottawa. Jared was diagnosed with ALS 6 months ago by his neurologist, on November 10, 2021. Treatment to date has been Riluzole medication prescribed by his doctor.

Figure 2

Pain: Site: calves, quads   Radiation: not radiating   Nature: deep cramping Periodicity: intermittent   Duration:  noticed it last 30 days   Intensity: 4/10 Quality: sharp , cramping   Aggravating factors: walking upstairs, running, walking distances >100 m   Alleviating factors: massage, rest

Past medical history

No significant past medical history. Patient had tonsillectomy at age 10.  

Medications

Riluzole, 100mg orally/day (8), Acetaminophen as needed.

Health Habits

Patient does not smoke cigarettes, drink alcohol, or do recreational drugs.

Family history

No known family history of ALS. Patient’s father has asthma. Mother has Type II diabetes.

Social history

Lives in a 3-storey home, with mom, dad, and younger sister. Enjoys playing and watching sports, and hiking with family. Patient meets up with friends every weekend to watch the soccer game. The patient used to work at Independent Grocer in the grocery department, which included tasks of stocking shelves and unloading skids. He left this job 3 months ago on medical leave, as it was challenging to lift heavy objects and have the control to place small objects onto the shelves.

Current functional status

The patient reports difficulty performing common activities of daily living (ADLs), including washing dishes, cutting food, shaving, and brushing his teeth. Jared explains that he has challenges with walking long distances and running, due to muscle cramping and difficulty with balance. However, he does not use any mobility aids to assist him. Additionally, he describes that his handwriting is impaired. Jared explains that he experienced shortness of breath during exercise, however, since his diagnosis, he has not recognized any additional breathing challenges at rest. The patient reports experiencing no changes in bowel or bladder functioning, difficulty with swallowing, and changes in cognitive function.  

Subjective outcome measures administered

• ALS-specific Quality of Life-Revised (ALSSQOL-R): a measure of QOL of individuals with ALS including aspects such as religiosity and intimacy. Jared’s ALSSQOL-R score= 7.2/10 (5)

• Numeric Pain Rating Scale (NPRS): a self-report measure regarding the patient’s pain experience, where the patient selects a whole number between 0-10 that best reflects their intensity of his/her pain over the last 24 hours. Jared indicates a pain score of 4 (10).  

Objective

General Observations

• Jared has slightly stooped posture including a forward head posture while sitting and standing.
• There is mild muscle atrophy in Jared’s hands and lower extremities including the quadriceps and calf muscles.
• There is mild bruising on Jared’s elbows and hips secondary to falls.
• There is visible fasciculations of Jared’s quadriceps bilaterally.

Speech and Language

Jared’s parents and family physician indicated a slightly slower and hyper-nasal voice.  

Tone and Sensation

• Sensation tested using a dermatomal pattern for the hot/cold and sharp/dull testing. No significant findings were found.  
• To rule out combined cortical sensation impairments, testing including graphesthesia and stereognosis was completed. No significant findings were found.
• Tone was assessed using the Modified Ashworth Spasticity Scale (7). Findings include:
  • Increased tone in global muscles.
  • UE = 1+; LE = 1

Motor Control

• Global strength was measured using manual muscle testing (MMT). Findings include: (14)
  • Bilateral ankle dorsiflexion = 3-/5
  • Wrist extension = 3+/5
  • Hip flexors = 3+/5
  • Hip extensors = 3+/5
  • Knee extension = 3+/5

• Grip Strength was measured using held dynamometer (HHD). Findings include:
  • Lower than average grip strength (4)
  • L = 30kg; R =35kg  

• Active Range of Motion (AROM) was measured using goniometry
  • All AROM are WNL except:
    • Bilateral wrist extension = 50°
    • Bilateral finger extension (DIP, PIP, MCP) = MCP 30-45°; PIP, 0°; DIP, 20° (those are normal values from PT 852)
    • Bilateral elbow extension = 10°
    • Bilateral dorsiflexion = 0°

• Passive Range of Motion (PROM)
  • Able to straighten out trunk/posture when asked and held it for 30 seconds then went back to stoop posture
  • PROM all WNL

• Manual dexterity was assessed using the Purdue Pegboard Test (PPBT). (16, 17)
  • Jared’s overall dexterity was slowed bilaterally with his non-dominant (L) hand scoring slightly slower than his R hand.
    • Right hand: 9
    • Left hand: 8
    • Both hands: 10
    • Right + Left + Both hands: 27
    • Assembly: 32

Neurological Testing

• Upper Motor Neurons (UMN)
  • Positive Babinski's sign bilaterally
  • Positive Clonus Test bilaterally  

• Lower Motor Neurons (LMN)
  • Increased Achilles reflex - Grade 4+
  • Increased patellar reflex - Grade 3+
  • Increased biceps reflex - Grade 3+
  • Increased triceps reflex - Grade 3+

Balance

Balance was measured using the miniBESTest for a baseline (19)

• Jared got a total score of 17/28.
• Subscores
  • Anticipatory: 3/6
  • Reactive Postural Control: 4/6
  • Sensory Orientation: 4/6
  • Dynamic Gait: 6/10

• Minimal Detectable Change: 5.5

Gait

Gait was assessed using the Ranchos Los Amigos Stages of Gait.

• Overall impression, Jared ambulates safely with some minimal balance deficits and decreased dorsiflexion in both feet. His step length was decreased bilaterally, which resulted in an increased double stance time. He also walked with a forward stooped posture.
  • Initial contact - decreased heel strike bilaterally
  • 

    Figure 3
    Loading response - normal  
  • Mid stance - normal  
  • Terminal stance - normal
  • Pre-Swing - decreased hip extension bilaterally
  • Initial Swing - Increased knee flexion bilaterally
  • Mid-Swing - decreased dorsiflexion bilaterally
  • Terminal Swing - no foot clearance bilaterally  

ALS Functional rating scale - Revised (ALSFRS-R)

ALSFRS-R is a test used to measure the functional status of individuals with ALS. The ALSFRS-R is scored using 12 activities of daily living measured using a 5-point scale. The highest score for each item is 4 which represents normal function. The lowest score for each item is 0 which represents loss of the function being assessed. The total score for the scale is 48, with a higher score indicating a higher functioning individual. (13) (20)

Figure 4. Jared's ALSFRS-R score during his first physiotherapy appointment (01/04/2021). The left column depicts Jared's score in each category. The right graph depicts the data compared to Jared (seen as the X).

Ventilatory Muscle Strength  

• Maximal Inspiratory Pressure (MIP) = -102 cmH20 and Maximal Expiratory Pressure (MEP) = 143 cmH2O

BMI  

• 6 foot 1 in, 158 pounds:BMI of 21 (healthy/normal weight)

Clinical Impression

Physiotherapy Diagnosis

Jared is a 24-year-old male who presents to physiotherapy following a neurologist diagnosis of early-stage Amyotrophic Lateral Sclerosis (ALS) 6 months ago (1998) (2). Jared and his parents indicated that he is currently independent in all his ADLs; however, he is having difficulties with certain ADLs requiring greater hand and finger dexterity, such as brushing his teeth. Jared has recently stopped playing recreational soccer as he was experiencing an increase in falls, difficulties with his balance, increased cramping, and weakness in his legs. Jared’s decreased grip strength and impaired hand and finger dexterity led him to take a leave from work and are currently preventing him from applying to dentistry school. Jared has a good social support system at home as he is living with his sister and parents. He expressed being motivated to start physiotherapy to continue leisurely hiking with his family and returning to work at the grocery store. Therefore, Jared would benefit from physiotherapy treatment focusing on maintaining functional independence and muscle strength, as well as education on lifestyle modification and energy conservation strategies related to ALS.

Problem List (According to the ICF Framework)

Body Structure and Function

• Decreased grip strength in kg bilaterally.  
• Decreased active wrist extension which influences dexterity and decreased dorsiflexion which influences ambulation.
• Mild muscle weakness globally, with upper and lower limb atrophy most notably in: Bilateral ankle dorsiflexion = 3-/5, Wrist extension = 3+/5, Hip flexion = 3+/5, Hip extension 3+/5, Knee extension = 3+/5.  
• Potentially experiencing body dysmorphia since his diagnosis, as he has seen noticeable changes in his muscle mass.  
• Demonstrated LMN hyperreflexia for upper and lower limb (Achilles 4+, patellar, triceps, biceps 3+)
• Demonstrated UMN hyperreflexia (Babinski and clonus)  
• At risk of respiratory compromise with further neurodegeneration

Activity

• Decreased speed while climbing stairs due to potential pain, cramping, and fatigue.
• Decreased dynamic and anticipatory balance and increased risk of falls according to miniBEST balance testing.
• ALSFRS-R score = 43/48.  
• Decreased manual dexterity as shown in Purdue pegboard test
• Drop foot gait patterning.  

Participation

• Unable to work due to frequent moderate muscle cramping, 4/10 pain and general upper and lower extremity weakness.  

• Unable to hike with family on the weekends due to weakness and pain.  

• Unable to study to become a dentist due to decreased upper limb strength and hand and finger dexterity which hinders practical ability to study dentistry.

Intervention

Type	Intensity	Frequency	Time
Strength Exercises Dorsiflexion against gravity Quads over roll Wrist flexion and extension using Theraband flexbar resistance bar Finger Flexors and Extensors using Thera web Glut bridges Wall squats Wall push-ups Banded marching	8-12 reps making sure to reach muscle fatigue (70-80% 1RM) 2-3 sets	3x per week, with at least 48hrs rest between same muscle groups	2-3 mins rest between sets
Endurance Exercises Eliptical Arm Bike Ambulation on treadmill	Moderate intensity (able to have a conversation while working)	3x per week (every other day)	30 minutes
Inspiratory Muscle Training Yellow Thera-band around diaphragm	8-12 reps making sure to reach muscle fatigue (70-80% 1RM) 2-3 sets	3x per week	2-3 mins rest between sets
Dexterity Training Grasping marbles and placing them in a jar, from multiple distances and heights Using clothes pins and placing them on a line	To mental / physical fatigue 2-3 sets	Recommended daily, but 3x a week minimum	30 minutes recommended, or as tolerated
Stretching Static stretching of: Finger Flexors/Extensors Wrist Flexors/Extensors Triceps surae Tibialis Anterior Hamstrings Glutes Quadriceps Shoulders	Stretching sensation to the point of mild discomfort	Recommended daily, but 3x a week minimum	30 second hold 3x a day
Ischemic Compression/Trigger point release Apply pressure slowly and progressively over the trigger point as the tension in the trigger point and the taut band subsides	Pressure into discomfort/pain (5/10 max pain)	Recommended daily, but 3x a week minimum	30-60 second hold at each point
Blance Single Leg Stance Tandem Stance Foam mat/ BOSU ball 2-legged stance External Perturbations (leaning on therapist, anterior, posterior, lateral) Internal perturbations (reaching, eyes closed)	As tolerated	Recommended daily, but 3x a week minimum	30 seconds hold x3 sets
Thermotherapy Heat pack	Mild warm sensation	As needed	15 minutes on, 45 minutes off (or until skin is back to normal temp)
Education Provide additional information about juvenile ALS, focusing on the importance of mobility and strengthening the available motor units as the disease progresses Provide education on overuse fatigue and what to expect as the disease progresses Provide pain education Provide education on how to use a peak flow meter for self-monitoring and management Provide gait aid education as needed	N/A	N/A	N/A

Outcome

Jared was very motivated to follow the intervention and plans set out from his physiotherapy sessions. He understood the importance of physical activity and strengthening in order to maintain/delay the progression of ALS. After the 1st week, Jared mentioned he enjoyed the strength training, and found the stretches, massages and ischemic compressions to complement well his cramps and fatigue. He especially liked the hand specific exercises, as he found himself being more confident with his fine motor control skills (eg. using his phone and laptop).  He mentioned that his pain has become more tolerable and has only reached a maximum of 3/10 when using the NPRS compared to his previous score of 4/10 before physiotherapy sessions (in both calves and quads). Although Jared was doing fine with all his exercises, we did not believe that increasing the resistance/intensity of exercises would benefit him. Increasing the intensity of exercises might negatively affect his prognosis and therefore we were cautious with progressing Jared’s interventions (29).  

After 3 weeks of therapy, Jared’s global strength was re-assessed through MMT and grip strength, while also looking at his gait and balance. Overall, his strength was very similar to his initial assessment except for increase in dorsiflexion strength to 3/5 bilaterally, wrist extensors and knee extension strength to 4-/5 bilaterally. His grip strength slightly improved to 33kg on his L and 37kg on his R hand, but it is not clinically significant (4). His gait slightly improved, as Jared displayed better foot clearance and increased dorsiflexion during the swing phase, bilaterally. Finally, Jared’s balance was re-assessed by using the miniBESTest, which he scored a 18/28 (Anticipatory: 4/6, Reactive Postural Control: 4/6, Sensory Orientation: 4/6, Dynamic Gait: 6/10). Again, although it was not a clinically significant difference, there wasn’t any decrease in his balance skills. At this point of time, Jared felt slightly discouraged as there were no major overall improvements. However, we had to re-emphasize the importance of maintaining his current physical performance, and educating Jared on ALS and its prognosis, and the value of preventing the effects of ALS.  

Finally, Jared was re-assessed after 6 weeks of therapy. From the general observation, we did not find any major differences or change. As well, there were no major changes in Jared's overall AROM and PROM. We then measured various outcome measures and their results were as follows: ALSSQOL-R: 36/48 (do we have different scoring system from the subjective?), NPRS: 4/10 most notably in his calves, ALSFRS-R: 44/48, MiniBESTest: 17/28 (Anticipatory: 4/6, Reactive Postural Control: 4/6, Sensory Orientation: 3/6, Dynamic Gait: 6/10), Purdue Pegboard Test: overall = 31, assembly = 36 (right hand :11, left hand: 9, both hands: 11). In terms of gait, Jared displayed similar gait pattern with better overall posture (less forward stooped posture) compared to three weeks ago. However, he mentioned that the pain in his calves had forced him to take more breaks during walks. He mentioned that the pain comes on after 10 minutes of constant walking, but a 5-minute break is enough for him to continue walking before the cycle continues again. Because of this, we decided to slightly alter his endurance interventions. Since Jared was doing both the endurance exercises and participating in frequent walks with his family, we had proposed to Jared to continue his frequent walks with his family and eliminate extra endurance activities (ellipticals and walking on treadmill) on those days. That way, we hoped to reduce his general pain and control his lower extremity muscle fatigue. In terms of overall strength, there were little deviations compared to his previously assessed strength three weeks ago. His R grip strength was 37kg and L grip strength was 34kg. His MMT scores were similar, however there was an increase in strength bilaterally in his dorsiflexion (3+/5) and an increase in strength bilaterally in his hip flexors and extensors (4-/5).

Although there were no significant changes in most of the results/measures compared to 6 weeks ago, having stable/consistent scores in a variety of outcome measures was seen as a positive. In other words, the interventions that were set out by PT along with the other interventions implemented by the rest of the healthcare team (neurologist, family doctor, OT, dietician, etc.), may have been effective in preventing the acute progressive nature of Jared’s ALS.

Discussion

ALS is a progressive neurodegenerative disease associated with the degeneration of upper and lower motor neurons, and results in a vast presentation of symptoms relating to motor control. (11) In addition to the impact on the motor neurons, ALS has devastating implications for one’s overall wellbeing, often leading to depression and feelings of hopelessness. Although there is no cure for ALS, multidisciplinary management is important for optimizing functional independence and QOL. This can be done through maintaining strength, mobility, lifestyle modifications, energy preservation strategies, and preparation for end of life (30).  

This fictional case study was developed to illustrate the progressive nature of ALS through a physiotherapy subjective and objective assessment and to demonstrate a potential physiotherapy management plan. Jared is a 24-year-old soccer player who presents with juvenile ALS. After completing a physiotherapy assessment, it was found that Jared has mild muscular atrophy in his hands, quadriceps, and calves, increased muscle tone in both the upper and lower extremities, a moderate overall decrease in strength, decreased ROM in his distal extremities, and modest changes in gait. As a young athlete and aspiring dentist, Jared expresses feeling discouraged regarding the progressive nature of this condition. However, with encouragement from his support system, Jared feels motivated to attend physiotherapy to improve his overall strength and balance, and hopes return to work and leisurely hiking with his family.

The discussion of whether individuals with progressive degenerative diseases—such as ALS—should exercise has been a controversial topic. Previous literature has been inconclusive regarding the benefits of exercise in ALS; it was traditionally thought that exercise may enhance deterioration (33). However, recent literature has demonstrated the potential of exercise to delay the progression of the condition, and thus, improve functional ability (33). Meng et al. (2020) found that the benefits of exercise were better demonstrated in the long-term, which is likely observed in patients who have a slower disease course. Majmudar et al. (2014) suggest that moderate exercise is safe for those with ALS, however, the delivery of these guidelines requires specific attention to the status of the patient.

Jared’s management plan focuses on strengthening and endurance exercises for the upper and lower extremities, as well balance training, with the goal being to maintain or recover strength and balance required for functional independence. Endurance exercises include ambulation on a treadmill, and balance exercises include exercises such as single leg stance. In addition, the multidisciplinary team provided Jared with the necessary education and tools for optimizing his function and QOL. This education included information on juvenile ALS, pain science, energy conservation, gait aids, and lifestyle modifications. Jared was referred to an OT for assistance with performing ADLs, and a RD for guidance on obtaining optimal nutrition throughout his degenerative condition. Various outcome measures were used to assess his strength and balance; after 6 weeks of physiotherapy, Jared’s strength and balance were both maintained. Due to the rapid and unpredictable nature of ALS, the maintenance of his current status is a positive finding and has optimistic implications on his functioning and QOL.

Jared’s case provides a framework for management of patients with ALS who are diagnosed at a young age. The onset of ALS most commonly occurs between the ages of 50 and 75, and therefore, research has focused on ALS as a disease that impacts those later in life. However, it is important for members of the interdisciplinary team to not only be aware of juvenile ALS, but also be able to alter their treatment to target the goals of this younger population. Age is a strong predictor for prognosis, indicating that the older the age of diagnosis, the worse the outcome (34). In this fictional case study, Jared was diagnosed with ALS at the age of 24, which is much younger than the typical age of onset. For this reason, it is predicted that Jared will have a slower advancement of symptoms; this was demonstrated throughout the case study. Furthermore, this case study was used to illustrate the variability of ALS symptoms and progression of disease. Despite having the same diagnosis, each patient will have a unique experience of symptoms, needs, and goals. Thus, it is imperative that health care professionals incorporate the patient into their management plan, and tailor their treatment specifically to each patient.

Interdisciplinary Management of ALS

Figure 5 All members involved in management of

Patient-centred, multidisciplinary, comprehensive rehabilitation care is vital for individuals with amyotrophic lateral sclerosis (ALS) and has been shown to significantly improve their care and improve quality of life (Paganoni et al., 2015). Health care professionals who may be involved in the care of individuals with ALS include the patient’s family and friends, family physician, neurologist, physiotherapists, occupational therapists (OTs), registered dietitians, speech language therapists, social workers and palliative care.

Occupational Therapist

OTs play an integral role in the interdisciplinary care of individuals with ALS. There are many tasks that an OT can perform to help ALS patients maintain their maximum functional and independence level. They can also assist in influencing the patient’s attitude and assist in changing their perspective to more of what they can do instead of what they can’t do. Although Jared is currently independent in his ADLs, he is having some difficulties with ADLs requiring hand motor dexterity. Moreover, an OT may need to fit and prescribe upper extremity bracing or adaptive devices. For example, adaptive large grip utensils may be recommended to allow individuals with ALS to maintain independence while eating or a resting hand splint may be recommended to prevent wrist and finger flexion contractures (Majmudar et al., 2014). Jared is currently able to ambulate independently; however, as his disease progresses, he will likely require the use of an Ankle-Foot Orthosis (AFO) or a gait aid which the OT can help fit and prescribe to him. As ALS progresses, Jared may need a cane, walker and eventually a wheelchair (Majmudar et al., 2014).

Additionally, an OT should educate individuals with ALS and their families on energy conservation and fatigue management. For example, OTs can provide education on the benefits of breaking up high-energy tasks by incorporating rest breaks into their daily activities and planning their day to prioritize the tasks that are most important to them. This type of education has shown to be effective in reducing fatigue, managing fatigue symptoms and improving different aspects such as health-related quality of life (De-Bernardi-Ojuel et al., 2021).

Finally, as ALS progresses, the OT may conduct a home assessment and provide recommendations to the family on certain modifications that they may want to make to enhance the individual’s mobility and safety. For example, a ramp may be recommended to enter the home or a stair lift if the individual with ALS lives in a multi-story home like Jared. In addition, the OT will likely give instructions to the family members and caregivers on how they can assist and support their family member with ALS with their exercises, proper positioning, how to lift and transfer the individual and how to use the assistive devices (MDA-ALS Center). Therefore, OTs play an essential role on the interdisciplinary care team of a patient with ALS, assisting in a multitude of ways as the disease progresses.

Registered Dietician  

A second key member of the interdisciplinary care team of a patient with ALS is a registered dietician (RD). RDs can provide a variety of different treatment options for ALS depending on the physical, and nutritional status of the individual.  As previously indicated, muscle weakness is a common symptom with ALS. This weakness can affect eating and swallowing, thus RDs can help individuals with ALS to optimize their diet, maintain or improve their nutritional status, minimize weight loss and maintain fluid intake.

In our case study, Jared is recently diagnosed with juvenile ALS and still has a high level of function. He is experiencing some muscle weakness; however, he does not currently have any difficulties in swallowing. Therefore, the role of the RD may be centred around assisting Jared to optimize his diet and maintain or improve his nutritional status. This may be through evidence-based nutritional guidance in the form of nutritional monitoring, meal planning, and an individualized diet targeted for optimal nutrition. Throughout this process, the RD would ensure to address areas such as caloric and hydration requirements, macronutrient and micronutrient requirements, and supplementation to optimize Jared’s quality of life. This is important for Jared as his score on the ALSSQOL-R of 7.2/10 indicates that his quality of life is not as high as it could be.

Additionally, as Jared is still walking and wants to get back to hiking with his family, a RD could help him to monitor or improve his nutritional status to maintain his energy levels for these activities. By monitoring his nutritional status, Jared and the RD will be able to identify and address any potential risks for malnutrition (Rio & Cawadias, 2007). In addition to the risk of malnutrition, difficulties swallowing, potential increased caloric expenditure from muscular fasciculations and decreased caloric intake in the presence of mental illness all increase the risk of weight loss in individuals with ALS (Korner et al., 2013).  Jared currently has a healthy BMI of 21, however, has noticed a decrease in muscle mass. An increased BMI is associated with more favourable outcomes in individuals with ALS. Therefore, the role of a RD with Jared may be to assist him in minimizing weight loss and maintaining his BMI (Ning P, Yang B, Li S, Mu X, Shen Q, Hu F, Tang Y, Yang X, Xu Y).

Finally, as the disease progresses, 85% of individuals with ALS will experience difficulties swallowing, also known as dysphagia (Onesti et al). Moreover, the role of the RD will transition to having a large focus on assessing the severity of dysphagia and providing nutritional management (CDO REF). The purpose of the assessment of dysphagia is to identify the risk of aspiration, developing pneumonia, and choking, and whether oral or non-oral routes of hydration and nutrition are indicated (CDO REF). In these cases, RDs assess the individual’s need for alternative methods to oral feeding such as a percutaneous endoscopic gastrostomy in which a feeding tube bypasses the esophagus and is inserted through the abdominal wall into the stomach for enteral nutrition (Rio & Cawadias, 2007). This alternative to oral feeding helps to improve or maintain nutritional status when more severe dysphagia is present in advanced ALS. Maintaining nutritional status is critical to prevent weight loss and fatigue associated with ALS. Jared is still currently in the early stages of the condition; however, these are treatment interventions that him, his RD and his family may need to consider in the future. Therefore, through the variety of different treatments that a RD can provide, they are an essential member of the interdisciplinary healthcare team for individuals living with ALS in both the novel and more advanced stages.

Self-study questions

Why would a PT utilize a peak flow meter in the management of a neurological condition such as ALS?

A) To self-manage and identify respiratory status, and be able to implement an emergency action plan when peak flow rates decline

B) For expiratory muscle training associated with decreased strength in progressive ALS

C) To determine the strength of a cough to clear secretions that accumulate in the airways with immobility  

D) A+C

E) All of the above

What is the pathophysiology of ALS?

A) Degeneration of upper and lower motor nerves

B) Degeneration of peripheral sensory nerves

C) Demyelination of the myelin sheath of peripheral sensory nerves

D) All of the above  

E) None of the above

When recently diagnosed with limb-onset ALS, what are typical initial symptoms?

A) Impaired sensation in the distal upper and lower limb

B) Respiratory compromise  

C) Muscle weakness and atrophy in distal limbs

D) Presence of cognitive deficits

E) None of the above