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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.
References[edit | edit source]