Amyotrophic Lateral Sclerosis - A Marathon Runner
Abstract[edit | edit source]
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting both the upper and lower motor neurons. It is characterized by a myriad of signs and symptoms, including global muscle weakness and wasting, reduced balance, dysarthria, dysphagia and many others; this condition is invariably fatal approximately 2-5 years after onset. The purpose of this case study is to describe a possible patient experience living with a recent diagnosis of ALS. Additionally, the aim is to explore how physical therapy can be implemented to reduce the rate of regression, using the International Classification of Functioning, Disability and Health (ICF) model as an intervention strategy, for educational purposes. This fictional case involves a 30-year-old female diagnosed with early-stage ALS, approximately six months prior to this physical therapy interaction. In addition to clinical examination findings, this case study outlines potential physical therapy interventions, with the goal of maintaining the patient’s strength, range of motion, balance, endurance, cardiorespiratory function, self-efficacy, and functional independence, with each being objectively measured using appropriate outcome measures.
Introduction[edit | edit source]
Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease, is part of a group called motor neuron diseases (MND) and is a devastating condition that involves deterioration of upper motor neurons (UMN) and lower motor neurons (LMN) in the brain, brainstem, and/or spinal cord. In ALS, the destruction of these neurons can lead to a diverse clinical presentation and includes various signs and symptoms such as progressive muscle weakness, muscle wasting, difficulty walking, dysarthria, dysphagia, and cognitive and behavioural changes. In ALS, muscle weakness typically has a focal onset but spreads progressively to other territories including the extremities, trunk, and oropharyngeal areas. About 70-80% of patients develop ALS in the limbs initially, however, 25-30% of ALS cases include bulbar symptoms such as problems with mastication, swallowing, and speech, which can be commonly manifested in older women. Due to the clinical presentation of ALS, the disease can significantly impose lifestyle restrictions including limitations in activities of daily living that may require the individual to submit to increased dependence in later stages of the disease.
The etiology of ALS is not well understood, with only 5-10% of cases arising from genetic causes (Familial ALS) and the remainder from sporadic or unknown causes (Sporadic ALS). Therefore, it has been suggested that ALS may be multifactorial, suggesting that environmental, genetic, and lifestyle factors could be influential in the emergence of the disease. Although there is no definitive diagnostic test for ALS, the presence of LMN and UMN signs such as fasciculations and spasticity as well as the progression of the disease to other areas of the body can confirm the diagnosis of ALS and typically takes 8-15 months from the onset of symptoms for diagnosis. Unfortunately, an ill-fated prognosis is associated with ALS, with death occurring at an average of 3-5 years after symptoms appear, commonly from respiratory failure due to weakness and atrophy of the diaphragm.
In Canada, there are an estimated 3000 individuals over the age of 18 living with ALS, with 1,000 Canadians dying from the disease every year. Each year, the mean age of ALS at onset is mid-to-late 50s and it is more prevalent in males than females. In most cases of the disease, the patient’s diaphragm becomes weakened and atrophied, which causes respiratory failure an average of about 3-5 years after diagnosis is made. However, there have been cases of individuals who have beat the odds against the short prognosis of death, including the famous English Theoretical Physicist, Stephen Hawking, who was diagnosed with ALS back in 1963 when he was 21 and passed away in 2018 at the age of 76, living more than 50 years with his ALS diagnosis. However, it remains inconclusive as to how Stephen Hawking lived as long as he did with his diagnosis, indicating the overall heterogeneity amongst individuals with ALS.
To date, there remains no cure or efficacious treatment in the management of ALS, which can be detrimental to the patient’s overall mental and physical health. However, patients with ALS can be prescribed a medication called Riluzole, which is approved for its safety in most countries and is used to lengthen the survival rate of ALS and stall the use of tracheostomy and mechanical ventilation during the duration of their disease. Although the drug does help prolong ALS survival, the effect of this medication is discrete, with only a 9% increase in survival in the first year of taking the medication compared to those who do not take Riluzole.. Therefore, in patients with ALS, the focus is to manage progressive symptoms and maintain their overall quality of life.
For educational purposes, Physical Therapy students at Queen's University created this case study. It is fictional in its entirety and does not depict a real-life case. The purpose of this case study is to provide readers with a glimpse of how patients with ALS may present along with providing physical therapists with an idea of how to examine, monitor, and follow up with patients who have this progressive degenerative disease. The case study will provide assessment findings and an overall treatment plan that is unique to patients with ALS to guide physical therapists in their position on how to manage and provide client-centred care to these individuals to maintain function and independence through the duration of their ALS diagnosis.
A challenging aspect of this condition is that ALS is progressive, which can have implications for intervention and can be challenging for the patient's overall emotional state. Therefore, healthcare professionals should remain empathetic and become active listeners to what their patients are experiencing, along with any limitations that they experience during their sessions. Fatigue and muscle weakness are significant considerations in treating individuals with ALS, therefore it may be important for physical therapists to take these factors into account as they can limit the participation and motivation of the patient during therapy sessions. Dependable care also may be of importance on a multidisciplinary level, requiring collaboration between multiple healthcare professionals to facilitate holistic, client-centred care for those with ALS.
Client Characteristics [edit | edit source]
Hannah Erikson is a 30-year-old Caucasian female, born in Tofino, BC on July 27th, 1992, afflicted with Amyotrophic Lateral Sclerosis. The mother of two first noticed signs of the disease in the summer of 2021. She reported to her family doctor experiences of progressive fatigue, generalized weakness of the legs throughout the day and intense cramping. She described tasks such as picking up her 1-year-old while making dinner, a previously easy task with her first child, as strenuous and that she makes a conscious effort to avoid the action altogether to prevent exacerbation of her fatigue. It should also be noted that Hannah was training for her third marathon that summer but was forced to stop because of the symptoms and a noticeable increase in falls that left her more injured than usual. Referred to a neurology clinic by her primary care physician, the diagnosis of ALS was confirmed in late November 2021. She has since been recommended to try physiotherapy. Hannah has a family history of heart failure on her mother’s side and is hypertensive; otherwise Hannah is a healthy, active 30-year-old female. She is right hand dominant and is not having any breathing difficulties at rest. She denies having any difficulties with swallowing and is not experiencing any issues related to vision.
Examination Findings [edit | edit source]
Subjective Assessment[edit | edit source]
Demographics[edit | edit source]
Hannah Erikson, 30 year-old female; Primary language: English
History of Present Illness[edit | edit source]
- Diagnosis: Early stage Amyotrophic Lateral Sclerosis; referred by family physician
[edit | edit source]
- Chronic onset (symptoms began approximately 10 months ago)
- Rehabilitation History: This is Hannah's first physiotherapy session. She will be attending out-patient physiotherapy to help manage symptoms and enhance her function and independence over the course of the disease.
Current Symptoms/primary concerns[edit | edit source]
- Patient comments/self-report:
- Hannah reports general weakness that started in the lower extremities but has now spread to the upper extremities, as well as muscle cramping in the limbs, and general fatigue and discomfort. Hannah is also concerned about her increase in falls as this is preventing her from participating in her third marathon. She is also concerned about the effect of her muscle weakness on being able to take care of her 1-year old daughter (e.g. not being able to lift her up into the crib, etc.)
Past medical History[edit | edit source]
Hannah was diagnosed with hypertension approximately 2 years ago, other than that she has no major past medical history.
Medications[edit | edit source]
Health Habits[edit | edit source]
Hannah drinks one alcoholic drink per week, and does not smoke or use recreational drugs.
Social History[edit | edit source]
Hannah lives in a 3-story home with her husband and two young children. She works as an environmental lawyer that involves a lot of paperwork and requires her to sit for many hours at a time. However, Hannah enjoys being physically active whenever she is not at work and participates in activities such as running, hiking and biking. Unfortunately she had to stop these activities due to her progressive condition, however, she still goes for walks with her children around the neighbourhood and pushes her younger daughter’s stroller.
Functional Status[edit | edit source]
Hannah is independent in most ADLs, however, she struggles with activities that require more strength (e.g., lifting a heavy pot when cooking). Hannah is also independent with ambulation and does not use a mobility aid. However, she reports having difficulty with prolonged light-to-moderate physical activity (e.g., a long hike) due to muscle cramping and impaired balance, and therefore can only participate in physical activity for short periods of time. Hannah has also stopped participating in more strenuous forms of physical activity (e.g., running) mainly due to her balance difficulties and susceptibility for falling, as well as from increased shortness of breath when doing these activities. Hannah does not report any speech difficulties nor any cognitive or behavioural changes at this time.
Subjective Outcome Measures:[edit | edit source]
Neuro-QOL - Adult Short-form scale:
- This is a self-report questionnaire that measures quality of life in 17 domains for adults with neurological disorders, such as ALS. This outcome measure was used for the following domains:
- Score for fatigue domain: 25/40
- This domain measures one’s level of fatigue and its effect on quality of life in individuals with neurological disorders.
- A higher score correlates with a higher level of fatigue that decreases one’s capacity for physical, functional, social and cognitive activities.
- Score for positive affect and well-being domain: 30/45
- This domain measures one’s sense of well-being, life satisfaction, and sense of purpose in life.
- A higher score indicates better self-reported health.
Objective Assessment[edit | edit source]
General Observations[edit | edit source]
- Hannah has a slouched posture while sitting in a chair
- She appears to be alert and oriented but is visibly fatigued
- There is mild atrophy and visible fasciculations of the lower extremity muscles bilaterally
- There is bruising of the knees and hips as a result of recurrent falls
Factors that may affect overall response[edit | edit source]
Hannah seems to have normal cognitive functioning, normal vision and perception, and does not appear to be experiencing any communication or speech deficits. Based on these factors, Hannah should be able to participate in the objective assessment without difficulty. However, Hannah has a decreased sense of overall well-being since her diagnosis which has negatively affected her mental health. This may be something to consider in terms of her response to rehabilitation.
Muscle Tone[edit | edit source]
- The Modified Ashworth Scale was used to assess spasticity
- All muscles were rated a score of 0 (indicating no increase in muscle tone upon passive joint movement), except for:
- Bilateral plantar flexors: 1
- Bilateral wrist flexors: 1+
- Bilateral quadriceps: 1
Reflexes[edit | edit source]
Upper Motor Neuron:
Lower Motor Neuron:
- Biceps tendon: Grade 3 (exaggerated)
- Brachioradialis tendon: Grade 3 (exaggerated)
- Triceps tendon: Grade 3 (exaggerated)
- Quadriceps tendon: Grade 4 (hyperreflexia)
- Achilles tendon: Grade 4 (hyperreflexia)
Somatosensation[edit | edit source]
- Dermatomes: normal
- Proprioception and kinesthesia: Normal
- Assessed using the limb matching test
- Fine touch, sharp/dull discrimination and temperature sense: normal
- Combined cortical sensations: Normal
- Includes stereognosis, graphesthesia, barognosis, double simultaneous stimulation
Aerobic capacity/endurance[edit | edit source]
The 2-minute step test was used to assess Hannah’s endurance and aerobic capacity.
- Step count: 104 steps
- This value indicates that Hannah has normal aerobic capacity/endurance as this is slightly above the average step count (approximately 103 steps) for active adults aged 25-44 years old.
Ventilatory Muscle Strength[edit | edit source]
This was measured using mouth pressures from maximal inspiratory and expiratory maneuvers.
- Maximal Inspiratory Pressure (MIP) = - 77 cm H2O
- Maximal Expiratory Pressure (MEP) = 120 cm H2O
These values are in the normal range for healthy women.
Range of Motion (ROM):[edit | edit source]
- Measured using goniometry
- Active ROM (AROM):
- All AROM movements are WNL except:
- Bilateral plantar flexion: 30°
- Bilateral dorsiflexion: 5°
- Bilateral wrist extension: 60°
- All AROM movements are WNL except:
- Passive ROM (PROM):
- All PROM movements are WNL
Muscle strength[edit | edit source]
- Measured using Manual Muscle Testing
- Hannah demonstrated 5/5 strength for all muscles tested except for:
- Ankle plantar flexors: R - 4-/5; L - 3+/5
- Wrist flexors: R - 4/5; L - 4-/5
- Knee extensors: R - 4/5; L - 4-/5
- Bilateral ankle dorsiflexors: 4-/5
- Bilateral hip abductors: 4/5
- Bilateral elbow flexors: 4/5
- Bilateral wrist extensors: 3+/5
- Measured using a handheld dynamometer
- Right hand - 25 Kg; Left - 21 Kg
- These recorded values for grip strength are below average for women aged 30-39 years old.
Dexterity/Motor Coordination[edit | edit source]
The Functional Dexterity test was used to measure manual dexterity and functional fine motor coordination of the hands.
- Time: 51 seconds
If more than 55 seconds is needed to complete the dexterity task, it is indicative of a non-functional hand. 
Balance[edit | edit source]
Hannah’s balance was assessed using the Berg Balance Scale (BBS).
- Score: 47/56
- A score below 50 indicates increased likelihood of falling and suggest the need for additional fall risk assessment
Gait[edit | edit source]
Overall impression: Hannah walks safely without a gait aid and with minimal balance deviations. However, she has a shortened stride length and increased double-stance time, decreased dorsiflexion, increased knee flexion at initial contact and decreased plantar flexion at toe-off.
The Dynamic Gait Index was used to assess the likelihood of falling when performing gait tasks. This test is scored out of 24 and each of the 8 items is scored from 0 (severe impairment) to 3 (normal). Hannah’s results are shown below:
- Gait level surface: 2 (Slower speed)
- Change in gait speed: 2 (Was not able to achieve a significant change in gait velocity)
- Gait with horizontal turns: 2
- Gait with vertical head turns: 2
- Gait and pivot turn: 2
- Step over obstacle: 2
- Step around obstacles: 2
- Steps: 2
Total score: 16/24
- A score below 19/24 indicates increased risk of falls in community dwelling older adults.
2 elements from the 5-metre Gait speed Test were also used to assess gait speed:
- Self-selected comfortable speed: 1.0 m/s
- Maximal Speed: 1.5 m/s
The mean comfortable gait speed for women aged 60-69 years old is 1.24 m/s. The average gait speed would likely be higher for Hannah’s age group.
Outcome measures[edit | edit source]
- ALS Functional Rating Scale-Revised (ALSFRS-R) :
Clinical Impression[edit | edit source]
Physiotherapy Diagnosis[edit | edit source]
Hannah presents with bilateral lower and upper extremity weakness and increased fatigue with minimal exertion, resulting in increased risk of falls and decreased ability to participate in activities of daily living.
Problem List[edit | edit source]
Body Structure and Function[edit | edit source]
- Upper and lower extremity muscle weakness
- Muscle cramping in upper and lower limbs
- Impaired balance and coordination deficits when standing and walking
- General muscle fatigue and shortness of breath on minimal exertion
- At risk of respiratory compromise as disease progresses
Activity[edit | edit source]
- Progressively increased difficulty performing activities of daily living requiring the lifting of objects heavier than 8 lbs
- Decreased speed and difficulty climbing a full flight of stairs (13 steps) without two railings due to cramping, weakness and fear of falling
- Decreased step length and cadence, and wide stance limiting efficiency when walking
- Difficulty transferring from drivers seat of car with low ground clearance to standing safely
Participation[edit | edit source]
- Fatigue and increased risk of falling preventing participation in running a marathon
- Unable to appropriately care for 1-year-old child, including lifting child from crib and climbing stairs while carrying child
- Difficulty completing paperwork for her job due to compromised fine-motor control of hands
- Anxiety regarding body image causing limited social interactions with friends and family
- Difficulty driving safely due to spontaneous onset of lower extremity muscle cramping and weakness of plantar flexors
Interventions[edit | edit source]
Goals[edit | edit source]
- Within the next 30 days, the patient will aim to increase her endurance so that she is able to cook dinner and clean dishes 5/7 days per week, ~45-60min of consecutive mild-moderate activity, without taking sit breaks to complete the task
- Within the next 30 days, the patient will focus on improved strength and muscular endurance for postural control, as well as improved upper extremity function by maintaining positions altered via internal/external perturbation training
- Over the next month the patient will walk around the block ~1km, in the morning while pushing her daughter in a stroller 5/7 days per week to maintain mobility and balance
- Educate on breathing techniques as prophylactic treatment for decreased inspiratory muscle function
|Strengthening and ROM
||Low-to-moderate intensity → this can be determined by choosing a weight you could use for 20 reps and then only do 8-12 reps
2 sets of 8-12 reps of each exercise
Start slow and progress slow
|2-3x/week||2-3 mins rest between sets|
|Stretching and ROM
||Stretch to the point of slight discomfort but not pain||Minimum 2-3x/week
Daily would provide more benefit
*whichever is preferred
|Sub-maximal level (50-60% of HRR)
-should be able to talk while performing exercise
|2-3x/week||Small bouts of 10-20 mins|
||10 full deeps breaths
|Daily||Once in morning
Once in evening
||Should feel warmth but not hot or burning on skin (put multiple layers between skin and heat source)||Every 1-2 hours or as needed||Leave on for 10-15 mins maximum|
||Will work on these at physiotherapy sessions for the time being|
||Will work on these at physiotherapy sessions as supervision is required at this time|
||Will continue to educate throughout each physiotherapy session|
Technology Used in Rehabilitation[edit | edit source]
Hannah is currently early in the stages of ALS and therefore will not require many of the typical technological devices required by ALS patients with more severe symptoms. These devices include electronic and specifically adapted wheelchairs, electric lifts used for home transfers and alternative communication devices. However, it may be beneficial for Hannah to include the use of other novel technological strategies in her treatment plan that she may require in the near future. One strategy that Hannah can use at her current condition is telehealth or telerehab. Recent studies have found that, while patients with ALS benefit from a multi-disciplinary approach, there are several issues with access to appointments that dampen the positive implications. These issues include long travel distances, long days at the clinic leading to increased fatigue and poor monitoring of the patient’s status in between in-person appointments. Largely accelerated by COVID-19, recent research is supporting the use of telehealth to address these various patient burdens.
One unique aspect of telehealth for the treatment of ALS includes nutritional counseling through an electronic application. In one study, patients who used a dietician monitored nutritional app increased their percent of recommended calories consumed and improved their general dietary intake.
Specific to Hannah’s treatment plan, she will be scheduled with available telehealth appointments for her physical therapy, occupational therapy, social worker or medical appointments to help with the worsening fatigue that she is experiencing at home. Hannah will also be educated on the use of an established app for nutritional counseling that includes a tailored dietary plan that addresses her individual needs. Preferably, the app selected for Hannah will also include features that allows her to log her weight over time and maintain a diary that will track her diet.
As Hannah’s disease progresses, she may require the use of other technological devices to assist with communication, mobility, and interaction with the environment. For instance, if Hannah’s condition results in severe communication and motor deficits, she may benefit from augmentative and/or alternative communication devices such as eye tracking (ET) and brain-computer interfaces (BCI). These technologies will allow Hannah to communicate and move/interact with her environment (e.g., operate power wheelchairs and switch on-off electrical devices) solely by tracking her eye movements and/or analyzing her brain activity. Therefore, although these advanced technologies are not applicable to Hannah’s current state, they may be useful in the future over the course of her disease.
Outcomes[edit | edit source]
Despite Hannah’s initial decline in mental health after her diagnosis, she has reacted well to the education she has received in physiotherapy and has slowly gained motivation to actively participate in her treatment as she comprehends this is required to prolong her independence. She reports that some days she feels unmotivated and defeated, however she is usually able to overcome this with support of her husband.
After 4 weeks of consistent physiotherapy treatment, Hannah was re-evaluated on several of the tests and outcome measures that were used in assessment to gauge the progress. Firstly, she repeated the subjective Neuro-QOL self-reported questionnaire. Her fatigue score increased to a 28/40 as she feels that her physiotherapy has helped her with energy conservation management. Furthermore, her positive affect and well-being score also increased to 33/45 as she feels well-supported by her health care team.
Using goniometry, Hannah has gained range of motion in her left ankle plantar flexors and dorsiflexors, which are now 40° and 10° respectively, however her right ankle plantar flexors and dorsiflexors have remained unchanged. This has helped with the toe-off phase and foot clearance in the swing phase of gait leading to slightly more stability and confidence while ambulating. In terms of strength, her left ankle plantar flexors have increased to 4/5, left knee extensors increased to 4/5, and left ankle dorsiflexors increased to 4/5. The remainder of her muscle groups have remained unchanged. Furthermore, when re-assessing tone using the Modified Ashworth Scale, Hannah’s right plantar flexors and quadriceps increased to a 1+ and her right elbow extensors increased to a 1. Her grip strength measured with a handheld dynamometer has increased to 27 kg with the right hand and 24 kg with the left hand. Despite the increase in grip strength, these values are still below average for women aged 30-39 years.
After repeating the ALSFRS-R and the BERG, she now scored 42/48 and 49/50, respectively. Despite both of these scores increasing, neither indicate a clinically significant difference.
Hannah was fitted for a quad cane which she primarily uses for larger outings to help with stability when she gets fatigued, such as when she goes for walks with her family. She reports feeling more confidence with walking due to increased strength and ROM, specifically in her left lower extremity. When re-tested using the Dynamic Gait Index, she achieved a score of 18/24 with improvements in walking on a level surface and change in gait speed. This increase in score is clinically significant, however her score still indicates that she is at increased risk of falls. It was planned to re-assess the 5-meter gait speed test, however, Hannah appeared to be rather fatigued by this point. Therefore, this test will be repeated at a later date.
Hannah has seen some minor improvements in strength, ROM and function, however most of these improvements have been minimal and are not considered clinically significant. ALS is a progressive condition, therefore we will not expect to see large or sustained improvements in the long-term. Our main goals in physiotherapy are to maintain current functional status as much as possible and slow the progression of the disease. Seeing slight improvements or even sustained levels of functioning are an indicator that the physiotherapy treatment is effective, however the treatment plan will continually adapt and change as the disease progresses.
Discharge Plan[edit | edit source]
Hannah will not be considered for discharge from physiotherapy care at this time. Due to the progressive nature of ALS, Hannah’s functional abilities will continue to decline, therefore she will benefit from consistent care that adapts to her needs as they advance. In conjunction with physiotherapy treatments, Hannah should be referred to additional allied health services. An interdisciplinary healthcare team is a crucial aspect of providing comprehensive, patient-centred care for people with ALS. There are several healthcare professionals that should be involved in the care of ALS patients including neurologists, physiatrists, nurses, physiotherapists, occupational therapists, social workers, speech language pathologists, registered dieticians, and respiratory therapists.
Occupational therapists (OT) play a key role in the care of those with ALS by assisting the individual maintain independence in their daily activities such as eating, cleaning or bathing, and assist in increasing functional mobility. Hannah is currently in the early stages of ALS, however she will likely require adaptive equipment that will help her maintain her independence as her condition progresses. Some examples of adaptive equipment in her current stage may include grab bars, dressing aids, or kitchen aids, and in the later stages may include transfer chairs, lift chairs, and mobility aids. Furthermore, an OT can help Hannah find purpose, despite her reduced ability to do the activities she enjoys such as running and caring for her family.
Hannah will also be referred to a Social Worker. A social worker will provide counselling and crisis intervention for Hannah and her husband to cope with her new diagnosis of ALS as well as connect them to community resources for support and financial assistance. Furthermore, as her disease progresses, she may desire help with declaring a substitute decision maker, aligning medical insurance and making arrangements for end-of-life care.
Finally, Hannah should be referred to a Registered Dietician to educate her on how to properly nourish her body to optimally function while coping with ALS. A dietician can create an individualized plan for Hannah regarding the proper amount of calories, macronutrients, and micronutrients to consume in order to sustain appropriate energy levels to participate in mandatory and leisure activities. Additionally, as her condition progresses her dietician can evaluate suitable food consistency and even help transition to a feeding tube.
Discussion[edit | edit source]
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that leads to the deterioration of the upper and lower motor neurons at all levels of the nervous system. There is an extensive and diffuse list of associated symptoms surrounding musculoskeletal issues, particularly with motor control, and the cognitive struggles that can occur throughout the condition’s progression. As these symptoms develop, patients with ALS also experience significant activity- and participatory-based restrictions which commonly contribute to struggles with mental health.
Although there are approved pharmacological interventions available to delay the progression of ALS, there is currently no cure, and the prognosis remains poor. It is for this reason that the prescription of interventions and management of treatment by a knowledgeable interdisciplinary health care team is essential to the overall well-being of patients with ALS. A fictional case has been written to provide a comprehensive depiction of a patient with ALS including the expected findings upon subjective and objective examinations, results of outcome measures, patient goals and interventions.
In this case, Hannah is a 30-year-old marathon runner who was diagnosed with ALS approximately six months ago. Upon assessment, Hannah is presenting with abnormal upper motor neuron reflexes, increased fatigue, a mild increase in tone as well as decreased range of motion and muscle strength, predominantly in her ankle plantar flexors, ankle dorsiflexors, wrist extensors and quadricep muscles bilaterally. Additionally, she demonstrates poor balance, early difficulties with gait, weak grip strength, but normal aerobic capacity, proprioception and basic sensation. Several outcome measures were used to complete this assessment including the Neuro-QOL questionnaire, Modified Ashworth Scale, the Functional Dexterity test, Berg Balance scale, Dynamic Gait Index and the ALS Functional Rating Scale Revised among others. On a more functional level, Hannah has expressed frustration with difficulties caring for her young children and her reduced ability to continue marathon training and hiking.
Following her assessment, Hannah was provided with an individualized treatment plan that focused on maintaining the strength and range of motion in her upper and lower extremities, aerobic exercise such as swimming or stationary biking, gait training with a mobility aid, inspiratory muscle training, balance exercises such as tandem walking or weight shifting and functional activities including transfers and stairs. An emphasis was also placed on patient education regarding pain management and the importance of exercise throughout the progression of the disease. Also included in Hannah’s treatment and discharge plan is the referral to services from other healthcare professionals. Occupational therapists will focus on maintaining and adapting activities of daily living, a social worker can provide counselling and crisis intervention for both Hannah and her family, and a dietician will educate her on how to optimally fuel her body to best cope with the challenges imposed by ALS. Neurologists, physiatrists, nurses, and speech language pathologists will also play important roles in Hannah’s care.
Due to the progressive nature of ALS, significant improvements are not expected in the post-intervention evaluation. Hannah followed this typical presentation and made some minor improvements in specific muscles for her range of motion, gait mechanics, lower extremity strength and grip strength, however she remained stagnant for all other muscles and tasks evaluated. She also continues to experience fatigue with prolonged activity.
This complete case overview for a patient with ALS provides an important reference and research-backed guide for the optimal care of patients with ALS. More specifically, this case provides a framework to the suitable assessment techniques, effective exercise and education-based interventions, appropriate use of outcome measures and referral to other health care professionals that may be utilized by other physiotherapists treating patients with ALS. Although care for these patients is highly individualized and disease-dependent, several aspects of this case can be broadly applied to the care of patients with other neurodegenerative and neurological diseases such as Parkinson’s disease, primary lateral sclerosis and multiple sclerosis. For example, Hannah’s case demonstrated the value of using outcome measures to evaluate and monitor a patient’s status. The use of outcome measures for neurological conditions has proven to be essential in quantifying observations, self-reported function and well-being, enhancing the communication throughout care and increasing the efficiency of patient care. Additionally, clinicians are advised to use the data from outcome measures as an accurate method to describe the patient’s progress to other health care professions. In Hannah’s case, the results from her Dynamic Gait index, Functional Dexterity Test or Berg Balance scale would be highly effective in the transfer of information to her referred occupational therapist. Based on this evidence, it can be seen why this strategy is, and should be, generalized to the treatment strategies of other neurological conditions.
Second, this case highlights the important role of an interdisciplinary health care team in the treatment of patients with neurodegenerative diseases. Having access to an interdisciplinary team may help reduce the burden of patients personally seeking out and scheduling care from other providers and might help to limit the number of appointments required to coordinate. These health care teams are also most effective in addressing the biological, psychological and social components of neurodegenerative and neurological diseases, providing an optimal and holistic care plan to the patient. While the above statements were originally made in the context of ALS management, extensive research has also proven the benefits of an interdisciplinary team approach for the management of Parkinson’s disease and other neurological conditions. Unique to this case is that Hannah is considered relatively young to receive a diagnosis of ALS at just 30 years old. Also related to her age, Hannah continues to deviate from a more typical patient with ALS because she has the responsibilities of caring for a young child and a baby. It was the intention of this case to call attention to the specific activity, participation and cognitive struggles that she faces due to these responsibilities. Therefore, the management strategies used to address Hannah’s uncommon social history, such as referring to a social worker for family and one-on-one counselling and individualized goal setting, can also be generalized to this specific population of patients with ALS.
In conclusion, Hannah’s case contains a comprehensive view of the management of care for a young female with ALS. Several components of her case may be used as an effective framework in the assessment and treatment of ALS and can be generalized to similar conditions, however, every patient with a neurodegenerative disease will present with unique needs and capabilities and should be treated with this understanding.
Self-Study Question[edit | edit source]
1. Why is the Neuro-QOL (adult short-form scale) an effective outcome measure used in the assessment of patients with ALS?
a) It is a self-reported questionnaire that is used to measure important issues that patients with ALS experience such as fatigue, positive affect and well-being
b) It is a self-reported questionnaire that is used to measure important issues that patients with ALS experience as muscle cramping and hand/finger dexterity
c) It is an essential tool used by physiotherapists to make the diagnosis of ALS upon first assessment
d) It is a comprehensive outcome measure that evaluates various components of ALS and therefore, is frequently used to replace a subjective assessment
2. Which of the following are NOT likely to be on a physiotherapy problem list for a patient with ALS?
a)Muscle cramping in the upper and lower limbs
b) Impaired cognition, presenting primarily as poor concentration, attention and short- term memory
c) Difficulty climbing a full flight of stairs, partly due to fear of falling
d) Increased risk of shoulder subluxation due to excessive ligament laxity
e) b and d
3. Which of the following statements is TRUE regarding the treatment of ALS?
a) The only effective treatment approaches for ALS symptom management are through physical therapy, occupational therapy and speech language pathology
b) While a multi-disciplinary team approach is helpful for some patients, physicians should assume responsibility for most of the care needs in ALS to reduce the total number of appointments scheduled for the patient
c) The focus of ALS treatment should be to manage progressive symptoms and maintain the overall quality of life
d) Education on the progressive nature of ALS should be limited as this increases the prevalence of psychological stress in patients
References[edit | edit source]
- O’Sullivan SB, Schmitz TJ, Fulk G, Amyotrophic Lateral Sclerosis In: Bello-Haas, VD. Physical Rehabilitation Seventh Edition. Philadelphia, PA, 2019. p712-747.
- Benatar, M., Wuu, J., McHutchison, C., Postuma, R.B., B`oeve, B.F., Petersen, R., . . . Ross, C.A. (2022). Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases. Brain, 145(1), 27-44. DOI: 10.1093/brain/awab404
- Brown, R.H., Phil, D. & Al-Chalabi, A. (2017). Amyotrophic Lateral Sclerosis. New England Journal of Medicine, 377, 162-172. doi:10.1056/NEJMra1603471
- Masrori P, Van Damme P. Amyotrophic lateral sclerosis: a clinical review. European journal of neurology. 2020;27(10):1918–29. doi.org/10.1111/ene.14393
- Shoesmith C, Abrahao A, Benstead T, Chum M, Dupre N, Izenberg A, et al. Canadian best practice recommendations for the management of amyotrophic lateral sclerosis. CMAJ. 2020;192:46:1453-68. doi: 10.1503/cmaj.191721
- Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2012 Mar 14;2012(3):CD001447. doi: 10.1002/14651858.CD001447.pub3. PMID: 22419278; PMCID: PMC7055506.
- ALS Association of Greater New York Chapter. What is ALS?. Available from: https://www.youtube.com/watch?v=CUsPW2sLAyo [last accessed 5/12/2022]
- The New York Bone & Joint Specialists. Injuries all women runners should know about [photograph]. 2017 Jul 21 [cited 2022 May 12]. In: nyboneandjoint.com [Internet]. New York: New York Bone & Joint Specialists; c2022. [about 2 screens]. Available from https://nyboneandjoint.com/blog/injuries-all-women-runners-should-know-about/
- Mandrioli, J., Ferri, L., Fasano, A., Zucchi, E., Fini, N., Moglia, C., . . . Calvo, A. (2018). Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis. Eur. J. Neurol. 25:6: 861-868. https://doi.org/10.1111/ene.13620
- Bello-Haas VD. Physical therapy for individuals with amyotrophic lateral sclerosis: current insights. Degener Neurol Neuromuscul Dis. 2018;8:45. doi:10.2147/DNND.S146949
- Mayo Clinic. Amyotrophic lateral sclerosis (ALS) - Symptoms and causes [Internet]. [cited 2022 May 9]. Available from: https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/symptoms-causes/syc-20354022
- Mayo Clinic. Acebutolol (Oral Route) [Internet]. [cited 2022 May 9]. Available from: https://www.mayoclinic.org/drugs-supplements/acebutolol-oral-route/proper-use/drg-20070999
- Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane database Syst Rev. 2000 Apr 22; (2):CD001447. DOI: 10.1002/14651858.CD001447
- Shirley Ryan AbilityLab. Neuro-QOL [Internet]. [cited 2022 May 9]. Available from: https://www.sralab.org/rehabilitation-measures/neuro-qol
- Wijesekera LC, Leigh PN. Amyotrophic lateral sclerosis. Orphanet J Rare Dis. 2009;4(1):3. doi: 10.1186/1750-1172-4-3
- Shirley Ryan AbilityLab. Ashworth Scale / Modified Ashworth Scale [Internet]. [cited 2022 May 9]. Available from: https://www.sralab.org/rehabilitation-measures/ashworth-scale-modified-ashworth-scale
- Bulthuis V, Vlooswijk M, Van Santbrink H, Schijns O. Case Report: Diagnostic pathway to amyotrophic lateral sclerosis (ALS): the significance of Babinski’s sign in a unique patient and the necessity for a multidisciplinary approach. BMJ Case Rep. 2013. doi: 10.1136/bcr-2012-007018.
- Walling AD. Amyotrophic Lateral Sclerosis: Lou Gehrig’s Disease. Am Fam Physician [Internet]. 1999;59(6):1489–96. Available from: https://www.aafp.org/afp/1999/0315/p1489.html#afp19990315p1489-b4
- Ramaiah Medicine. Demonstration of Ankle Clonus. Available from: https://www.youtube.com/watch?v=J--IdbR1T2w [last accessed 5/12/2022]
- Shirley Ryan AbilityLab. 2 Minute Step Test [Internet]. [cited 2022 May 9]. Available from: https://www.sralab.org/rehabilitation-measures/2-minute-step-test#healthy-adults
- Landsberg JW. Pulmonary function testing. Clin Pract Man Pulm Crit Care Med [Internet]. 2018 Jan 1; 22–35. Available from: https://linkinghub.elsevier.com/retrieve/pii/B9780323399524000032
- Cudkowicz M, Qureshi M, Shefner J. Measures and Markers in Amyotrophic Lateral Sclerosis. NeuroRx. 2004 Apr;1(2):273. doi: 10.1602/neurorx.1.2.273.
- Shirley Ryan AbilityLab. Hand-held Dynamometer / Grip Strength [Internet]. [cited 2022 May 9]. Available from: https://www.sralab.org/rehabilitation-measures/hand-held-dynamometergrip-strength#non-specific-patient-population
- Shirley Ryan AbilityLab. Functional Dexterity Test [Internet]. [cited 2022 May 9]. Available from: https://www.sralab.org/rehabilitation-measures/functional-dexterity-test
- Lusardi MM, Fritz S, Middleton A, Allison L, Wingood M, Phillips E, et al. Determining Risk of Falls in Community Dwelling Older Adults: A Systematic Review and Meta-analysis Using Posttest Probability. J Geriatr Phys Ther. 2017;40(1):1. doi: 10.1519/JPT.0000000000000099.
- Goldfarb, B. J., Simon, S. R. Gait patterns in patients with amyotrophic lateral sclerosis. Arch Phys Med Rehabil. 1984;65(2):61-5. PMID: 6696604
- Shirley Ryan AbilityLab. Dynamic Gait Index [Internet]. [cited 2022 May 9]. Available from: https://www.sralab.org/rehabilitation-measures/dynamic-gait-index
- Lusardi MM, Pellecchia GL, Schulman M. Functional Performance in Community Living Older Adults. J Geriatr Phys Ther [Internet]. 2003 Dec; 26(3):14–22. Available from: https://journals.lww.com/jgpt/abstract/2003/12000/functional_performance_in_community_living_older.3.aspx
- Shirley Ryan AbilityLab. Amyotrophic Lateral Sclerosis Functional Rating Scale [Internet]. [cited 2022 May 9]. Available from: https://www.sralab.org/rehabilitation-measures/amyotrophic-lateral-sclerosis-functional-rating-scale
- Bello-Haas VD. A Framework for Rehabilitation of Neurodegenerative Diseases: Planning Care and Maximizing Quality of Life. J Neuro Phys Ther. 2002;26(3):115–29. DOI:10.1097/01253086-200226030-00003
- Paganoni S, Karam C, Joyce N, Bedlack R, Carter GT. Comprehensive rehabilitative care across the spectrum of amyotrophic lateral sclerosis. NeuroRehabilitation (Reading, Mass). 2015;37(1):53–68. doi: 10.3233/NRE-151240.
- Riebe D, Ehrman JK, Liguori G, Magal M. ACSM’s guidelines for exercise testing and prescription (tenth edition). Philadelphia PA: Wolters Kluwer, 2018. Available from: https://www.worldcat.org/title/acsms-guidelines-for-exercise-testing-and-prescription/oclc/958942491
- Pinto S, Quintarelli S, Silani V. New technologies and Amyotrophic Lateral Sclerosis – Which step forward rushed by the COVID-19 pandemic? J Neurol Sci [Internet]. 2020 Nov 15; 418:117081. doi: 10.1016/j.jns.2020.117081
- Pugliese R, Sala R, Regondi S, Beltrami B, Lunetta C. Emerging technologies for management of patients with amyotrophic lateral sclerosis: from telehealth to assistive robotics and neural interfaces. J Neurol [Internet]. 2022 Jan 21; 1:1–12.
- Wills AM, Garry J, Hubbard J, Mezoian T, Breen CT, Ortiz-Miller C, et al. Nutritional counseling with or without mobile health technology: a randomized open-label standard-of-care-controlled trial in ALS. BMC Neurol. 2019 May 29;19(1). doi: 10.1186/s12883-019-1330-6
- Driskell LD, York MK, Heyn PC, Sanjak M, MacAdam C. A guide to understanding the benefits of a multidisciplinary team approach to amyotrophic lateral sclerosis (ALS) Treatment. Arch of phys med and rehab. 2019;100(3):583–6. doi: 10.1097/NPT.0000000000000229.
- CAIPE. Who exactly is a part of the interdisciplinary team [Image]. 2020 Feb 3 [cited 2022 May 12]. In: Caipe.org [Internet]. Fareham England: Caipe.org; c2022. [about 1 screen]. Available from: https://www.caipe.org/news/who-exactly-is-a-part-of-the-interdisciplinary-tea
- Moore JL, Potter K, Blankshain K, Kaplain K, O’Dwyer LC, Sullivan JE. A core set of outcome measures for adults with neurologic conditions undergoing rehabilitation. J Neurol Phys Ther. 2018;42(3):174-200. doi: 10.1097/NPT.0000000000000229.
- Skelly R, Lindop F, Johnson C. Multidisciplinary care of patients with Parkinson’s disease. Prog Neurol Psychiatry; 2012;16(2):10-14. https://doi.org/10.1002/pnp.230