Amyotrophic Lateral Sclerosis - A Marathon Runner

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Original Editors - Heather Smith

Emma Lindsay

Hunter Mott

Jasmine Raines

Grace Yamamoto

Emily Valko

Top Contributors - Jasmine Raines, Heather Smith, Emily Valko, Grace Yamamoto, Emma Lindsay and Hunter Mott  

Abstract

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, 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

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 (1). 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 (2). In ALS, muscle weakness typically has a focal onset but spreads progressively to other territories including the extremities, trunk, and oropharyngeal areas (3). 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 (4). 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 (1).

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) (1). 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 (5). 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 (1). 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 (1).

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 (5). Each year, The mean age of cases of ALS results in individuals aged 50 years and up and affects males more than females (1). 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 (1). 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 (3). 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 (6). 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 don’t take Riluzole (6). Therefore, in patients with ALS, the focus is to manage progressive symptoms and maintaining the overall quality of life

For educational purposes, this case study 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-centered 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 they are experiencing, along with any limitations that they experience during their sessions. Fatigue and muscle weakness is a significant consideration in treating individuals with ALS, therefore it may be important for physical therapists as these factors 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-centered care for those with ALS.

Client Characteristics 

Hannah Erikson is a 30-year-old Caucasian female, born in Tofino, BC on July 27th, 1992, afflicted with amyotrophic lateral syndrome. 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 (7); otherwise Hannah is a healthy, active 30-year-old female. She is right hand dominant and is not having any breathing difficulties. She denies having any difficulties with swallowing and is not experiencing any issues related to vision.

Examination Findings 

Subjective Assessment:

Demographics:

Hannah Erikson, 30 year-old female

Primary language: English

History of Present Illness:

• Diagnosis: Early stage Amyotrophic Lateral Sclerosis; referred by family physician

History related to Principal Diagnosis

• Chronic onset (symptoms began approximately 10 months ago)
• Rehabilitation Hx: Hannah began out-patient physiotherapy 2 months ago to help manage symptoms and enhance her function and independence over the course of the disease (8)

Current Symptoms/primary concerns

• Patient comments/self-report
  • General weakness that started in the lower extremities but has now spread to the upper extremities, general fatigue, and muscle cramping in the limbs (9). 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 them up into their crib, etc.)

Past medical History

Hannah was diagnosed with hypertension approximately 2 years ago, other than that she has no major past medical history.

Medications

Hannah takes 400 mg of acebutolol per day to manage her high blood pressure and takes 100 mg of Riluzole per day to help slow the progression of ALS (10, 11).

Health Habits

Hannah drinks one alcoholic drink per week, and does not smoke or use recreational drugs.

Social History

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 neighborhood and pushes her younger daughter’s stroller.

Functional Status:

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 to falling, as well as from increased shortness of breath when doing these activities. Hannah does not report any speech or swallowing difficulties nor any cognitive or behavioural changes at this time.

Subjective Outcome Measures:

Neuro-QOL - Adult Short-form scale (12):

• 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 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.

• Positive affect and well-being domain: 30/45
  • This 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

General Observations

• 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 (13)
• There is bruising of the knees and hips as a result of recurrent falls

Factors that may affect overall response

Hannah has normal cognitive functioning, normal vision and perception, and is not currently 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 affect her response to rehabilitation.

Muscle Tone

• The Modified Ashworth Scale was used to assess spasticity (14)
  • 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:

Upper Motor Neuron:

• Babinski’s sign: Positive (bilaterally) (15)
• Clonus: Positive (Left side) (16)

Lower Motor Neuron (16):

• 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:

• 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

The 2-minute step test was used to assess Hannah’s endurance and aerobic capacity (17).

• Step count: 104 steps
  • This value indicates that Hannah has normal aerobic capacity as this is slightly above the average step count (approximately 103 steps) for active adults aged 25-44 years old (17).

Ventilatory Muscle Strength

This was measured using mouth pressures from maximal inspiratory and expiratory maneuvers (18).

• Maximal Inspiratory Pressure (MIP) = - 77 cm H2O
• Maximal Expiratory Pressure (MEP) = 120 cm H2O

These values are in the normal range for healthy women (18).

Range of Motion (ROM):

• measured using goniometry
• Active ROM (AROM):
  • All AROM movements are WNL except:
    • Bilateral plantar flexion: 30°
    • Bilateral dorsiflexion: 5°
    • Bilateral wrist extension: 60°

• Passive ROM (PROM):

• All PROM movements are WNL

Muscle strength

Global Strength:

• Measured using Manual Muscle Testing (19)
• 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

Grip Strength:

• 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 (20)

Dexterity/Motor Coordination:

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 (21).

Balance:

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 (22)

Gait:

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 at initial contact and decreased plantar flexion at toe-off. (23).

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 (24).

2 elements from the 5-metre Gait speed Test was 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 (25). The average gait speed would likely be higher for Hannah’s age group.

Outcome measures

• ALS Functional Rating Scale-Revised (ALSFRS-R) :
  • This tool measures global function and the ability to complete ADLs in patients with ALS. It consists of 12 questions, each assessing different types of functions, that are scored from 0 (unable) to 4 (normal ability) (26).
  • Score: 30/48
  • A lower score corresponds to a lower level of function (26).

Clinical Impression

Physiotherapy Diagnosis

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

Body Structure and Function

• 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

• Progressively increased difficulty performing activities of daily living requiring the lifting of objects heavier than 8lbs
• 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

• 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 in 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

Goals

1. 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
2. Within the next 30 days, the patient will focus on improved strength and endurance for postural control, as well as improved upper extremity function by maintaining positions altered via internal/external perturbation training
3. 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/maintain balance
4. Educate on breathing techniques as prophylactic treatment of decreased inspiratory muscle function

Treatment (27),(28),(29),(30)

Type	Intensity	Frequency	Time
Strengthening and ROM Seated alternating knee extension Seated alternating hip flexion Seated bilateral toe and heel raises Standing calf raises Gentle trunk rotations Ball squeezes with hands Sit-to-stand	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 Shoulder stretches Finger and wrist extensions Seated double arm circles Calf stretch against wall	Stretch to the point of slight discomfort but not pain	Minimum 2-3x/week Daily would provide more benefit	30 seconds 2x/day
Aerobic Exercise Swimming                 OR Stationary biking   OR Walking *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
Breathing Techniques Supine deep breathing with hand on diaphragm Stacked breathing	10 full deeps breaths 2x/day	Daily	Once in morning Once in evening
Thermotherapy Heat to help with muscle cramping and soreness	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
Gait Aid Fit for quad cane to assist with stability	N/A	N/A	N/A
Functional Activities Safe transfers in and out of the car, out of bed, etc. Stairs	Will work on these at physiotherapy sessions for the time being
Balance Tandem walking and backwards walking  in parallel bars Postural control with internal/external perturbations Supervised lateral and anterior-posterior weight shifting in standing Walking at varying speeds and over/around obstacles	Will work on these at physiotherapy sessions as supervision is required at this time
Education Educate regarding overexertion and provide energy conservation techniques Educate regarding pain management, positioning, and transfers as needed Provide information regarding progressive nature of the disease and what to expect as disease progresses Promote the important of movement and exercises to slow progression	Will continue to educate throughout each physiotherapy session

Outcomes

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 progress. Firstly, she repeated the subjective Neuro-QOL self-reported questionnaire. Her fatigue score increased to a 28/40 as she feels 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 (12).

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 quads increased to a 1+ and her R elbow extensors increased to a 1 (14). 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 (20).

After repeating the ALSFRS-R and the BERG, she now scored 33/48  and 49/50 respectively. Despite both of these scores increasing, neither indicate a clinically significant difference (26).

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 L/E. 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 (24). It was planned to re-assess the 5-meter gait speed test, however Hannah appeared to be rather fatigued by this point, therefore this 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.

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