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[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, 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 (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 [edit | edit source]

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 [edit | edit source]

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).