Huntington's Disease: Case Study

Abstract and Purpose

This case study was developed by Physiotherapy students (PT1) at Queen's University with the intention of increasing our knowledge of Huntington's Disease and neurological conditions as part of our PT858: Neuromotor Function II.

The purpose of this case study is to demonstrate an example of physiotherapy management for an individual in the early intermediate stage of Huntington’s Disease (HD), approximately 4 years post diagnosis. This case study illustrated a patient who presented with motor, emotional and cognitive impairments as a result of HD. Patient specific problems were noted and associated short and long term goals were developed to manage current symptoms as well as mitigate disease progression. Treatment for the patient included functional strengthening, aerobic endurance, and education. Referrals for other healthcare professionals such as clinical psychologist, occupational therapist, and speech language pathologist were noted in order to help manage the multi-faceted presentation of his disease beyond the scope of physical therapy. The study will help students gain a comprehensive understanding of typical clinical presentations, physiotherapy assessments, interventions, interdisciplinary management, and other relevant factors related to the disease.

Introduction to Huntington's Disease

Pathophysiology

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Clinical Presentation

Huntington's typically presents a...

- include symptoms

Subjective Examination

Patient Profile

Barry Johnson is a 38 year old male that has been diagnosed with Huntington’s Disease (HD).

History of Present Illness (HPI)

He was initially diagnosed 2 years ago following the onset of concerning symptoms including mood swings, social withdrawal, apathy, difficulty concentrating, memory lapses, general clumsiness. After meeting with his family doctor, Barry was referred to the neurologist which confirmed the diagnosis of HD. Mr. Johnson is currently in the early-intermediate stages of his disease, demonstrating difficulty with various motor activities including walking, trouble holding onto things, and other fine motor tasks. Barry is generally a happy person, but has been dealing with depressive episodes since the onset of his disease, as well as increased irritability and agitation. He also notes feeling a little more cloudy in his mind and forgetful of certain details regarding responsibilities at work and at home, which leads to him taking more time on what used to be simple tasks.

Past Medical History (PMHx)

n/a

Medications (Rx)

Mr. Johnson was prescribed 25 mg per day of Valium (Diazepam) by his doctor following the onset and increase in depressive symptoms as well as some initiation of chorea and dystonia. However, the combination of impaired gait, increasing chorea and emotional/cognitive dysfunction may indicate his medications need to be adjusted.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677041/

Health Habits (HH)

Mr. Johnson does not smoke cigarettes, occasional scotch on the weekend, or use recreational drugs.

Family History (FHx)

No previous family history of cancer, CVD, or any genetic disease.

Social History (SHx)

Mr. Johnson has been working in his family landscaping business for the last 10 years. While his job is largely focused on the management side of the business, he did engage in active gardening somewhat often to which he has been having more difficulty with as the disease has progressed. He currently employs other colleagues to do more of the hands-on work and has transitioned towards a more passive role in the head office. At home, Barry has been experiencing trouble with doing ADLs independently which includes: self cleansing, house chores, and navigating his 2 story home. He lives at home with his wife, Candice, and daughter, Anita in their two story home. He noted that he and his wife have been arguing more than they used to in their marriage. Aside from his semi-active landscaping job, Mr. Johnson used to be an avid soccer player, and regularly joined his friends on the weekends to play in a men's recreational league. While he is no longer playing, he tries to engage in some form of activity on 2 of his evenings during the week after work, which consists usually of walks outside without a gait aid with his daughter alongside. Additionally, Barry volunteered with the local minor soccer association as a house league coach 3 nights a week, but the progression of HD and functional and restrictions, alongside his increased self-consciousness of his condition, have reduced his ability to be involved all together.

Past Functional History (FnHx)

Prior to his diagnosis and onset of symptoms, Barry was a fully independent and active person. He was extremely active and hands-on in his work, doing chores in his home, as well participating in recreational activities on a weekly basis. He was fully independent in all ADLs and aspects of mobility. Up until initial consultation, Barry has not been using a gait aid to ambulate, however has experienced a number of trips and minor falls while at home and at work.

Current Functional Status (FnSt)

Barry has experienced a number of instances of instability in recent memory, including stumbling at work and at home. His motor function has been impaired as his chorea has become more pronounced at this stage of his disease progression, which has exacerbated his depression, making him feel more self conscious at work and in his personal life. Barry is not fully independent with mobility and ADLs at this point, and can not engage in his work and recreation as he used to. Barry definitely feels more fatigued with longer periods of activity than he used to.

Current Interventions

Barry is planning on attending physical therapy to manage his symptoms and improve his quality of life. He will also be attending counseling and support groups to help him cope with the emotional and psychological effects of the disease.

Goals

Mr. Johnson would like to sustain and or improve independence in his ADLs and balance during ambulation, as well as generally more as ease and comfort with the manifestation of the disease. Barry does not feel fully comfortable emotionally in social settings, and would like to learn to control his disease and learn compensatory strategies so that he can engage in social settings as much as possible.

Objective Examination

Observation

On observation, Mr Johnson appears to be sitting with an upright posture, consciously aware of the setting he is in. He does appear to have slight fidgets as if he is uncomfortable with the static sitting on the plinth. He has no noticeable atrophy of the the U/E and L/E

Muscle Strength Testing

MMTs for the U/E and L/E were tested in order to assess possibly strength deficits that might be resulting in Mr. Johnson’s impaired gripping ability as well as trouble with ambulation.  Mr. Johnson displayed weakness/reduced grip strength bilaterally (3/5), as well as slightly decreased strength in the knee flexors and extensors (4/5). All other muscle groups were strong. These results allow for an intervention program to be designed to address specific deficits in strength as well as sustain others to prevent decline with disease progression (Quinn 2020).

Quinn, L., Kegelmeyer, D., Kloos, A., Rao, A. K., Busse, M., & Fritz, N. E. (2020). Clinical recommendations to guide physical therapy practice for Huntington disease. Neurology, 94(5), 217-228.

Balance

As addressed during intake, Barry deals with instability during ambulation. The Berg Balance Test was performed by the patient, as it has been shown to be valid and reliable in assessing this portion of deficit in people with HD (Busse 2014). Barry achieved a score of 40 on the test, indicating an increased risk for falls with HD (Busse 2009).

Busse, M., Quinn, L., Khalil, H., & McEwan, K. (2014). Optimising mobility outcome measures in Huntington's disease. Journal of Huntington's disease, 3(2), 175–188. https://doi.org/10.3233/JHD-140091

Busse, M. E., Wiles, C. M., & Rosser, A. E. (2009). Mobility and falls in people with Huntington's disease. Journal of neurology, neurosurgery, and psychiatry, 80(1), 88–90. https://doi.org/10.1136/jnnp.2008.147793

Gait

A general gait assessment was done with Mr. Johnson following his subjective examination. Gait was observed as the patient was walking into the consultation to try and see natural deficiencies, if any. Barry was most definitely unstable walking in and was not confident in walking through this new environment swiftly. As a result, the Timed Up and Go (TUG) test was performed, so that this motion again that was observed when getting up from the waiting room and coming to the plinth could be clinically documented. The TUG test has been well validated for improving physical functioning in people with manifest HD which is why it was used (Quinn 2013). The test involved standing up from the chair, walking 3 m, turning around, and then returning to the chair. The test is done two times and the score is averaged. Barry completed the test in 14 secs, which indicated his risk for increased falls with HD (Busse 2009). In addition, the 10m walk test was performed in order to test the patients speed which seemed to be limited when entering the consultation. Patient had a 0.81 m/s speed, which was indicative of lower speeds for his age group and increased falls risk (Moore 2018).

Busse, M. E., Wiles, C. M., & Rosser, A. E. (2009). Mobility and falls in people with Huntington's disease. Journal of neurology, neurosurgery, and psychiatry, 80(1), 88–90. https://doi.org/10.1136/jnnp.2008.147793

Quinn L, Khalil H, Dawes H, Fritz NE, Kegelmeyer D, Kloos AD, et al. Reliability and Minimal Detectable Change of Physical Performance Measures in Individuals With Pre-manifest and Manifest Huntington Disease. Physical Therapy. 2013 Jul 1;93(7):942–956. Doi: https://doi.org/10.2522/ptj.20130032

Moore, J. L., Potter, K., Blankshain, K., Kaplan, S. L., O'Dwyer, L. C., & Sullivan, J. E. (2018). A core set of outcome measures for adults with neurologic conditions undergoing rehabilitation: a clinical practice guideline. Journal of Neurologic Physical Therapy, 42(3), 174.

Cognition/Emotional/Mental State

Due to Mr. Johnson’s expression of some of the emotional and mental challenges that he experiences as a result of his disease, it was determined that it would be appropriate to use the SF-36 questionnaire to measure quality of life and level of participation. It was a quick form which was helpful to save time for other portions of the consultation, but had large validity and reliability for HD which is why it was used (https://pubmed.ncbi.nlm.nih.gov/15389986/). Barry scored a 47 on the test, indicating he is on the lower side of disability.  

Make sure to identify 1 comorbidity that we would screen for in our patient

Problem List and Associated Short (STG) and Long Term (LTG) Goals

AS IDENTIFIED DURING THE ASSESSMENT

1) Body Structure and Function: Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat. Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum.

• Short Term Goal
• Long Term Goal

2) Activity Limitations: Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat. Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum.

• Short Term Goal
• Long Term Goal

3) Participation Restrictions: Mr. Johnson is within the early-intermediate stage of HD, his functional deficits are not restricting him from completing his day-to-day tasks with his family’s landscaping company, and have restricted his limits to completing hands-on work. Additionally, he has begun to have issues with ADLs, resulting in anxiety/depression and overall withdrawal from ADLs in general. One of the participation restrictions that weighs on him most heavily would be his self-implicated reduction in volunteering with his local soccer association as a coach for minor soccer league teams, as he feels his physical symptoms and increased self-consciousness of presentation of HD will hinder his ability to be involved with coaching at all

STG: Within 12 weeks, improve SF-36 score by the MCID through implementation of group exercise intervention

LTG: Within 6 months, return to 50% of his volunteering/coach capacity with the soccer club (prior to onset of physical and psychosocial HD symptoms), up to 3 days/week

Clinical Impression (Diagnosis and Prognosis)

Diagnosis: Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat. Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum.

Prognosis: Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat. Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum.

Outcome Measures

1)

2)

3) tug, berg, 6min walk...

Treatment Plan for Identified Goals

Short Term Goals:

• STG #1:
• STG #2:
• STG #3:

Long Term Goals:

• LTG #1:
• LTG #2:
• LTG #3:

Assistive Technology to Treatment Plan

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Interdisciplinary Care Team: Management and Referrals

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2) Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat. Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum.

3) Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat. Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum.

Discussion

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References

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