Huntington's Disease Case Study: Difference between revisions
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<u>What is Huntington's Disease?</u> | <u>What is Huntington's Disease?</u> | ||
Huntington disease (HD) is an incurable, inherited disorder that occurs from gene mutation and results in the progressive degeneration of nerve cells in the brain< | Huntington disease (HD) is an incurable, inherited disorder that occurs from gene mutation and results in the progressive degeneration of nerve cells in the brain<ref>Folstein SE. Huntington's Disease: A Disorder of Families. The Johns Hopkins University Press. 1989</ref>.The basal ganglia is the primary location of degeneration, specifically the striatum located within it. The primary role of the basal ganglia is to coordinate movement so that it is smooth<sup>2</sup>. When the striatum degenerates, there is a decreased ability to inhibit unwanted movement3. This leads to an excessive amount of involuntary movement, known as chorea. HD affects the ability of individuals to move, think, and behave. HD typically first appears at the age of 30 to 40, however symptoms may present at any point in life1. HD occuring before the age of 20 is called juvenile Huntington’s disease. | ||
<u>Pathophysiology</u> | <u>Pathophysiology</u> |
Revision as of 20:54, 9 May 2022
Introduction
What is Huntington's Disease?
Huntington disease (HD) is an incurable, inherited disorder that occurs from gene mutation and results in the progressive degeneration of nerve cells in the brain[1].The basal ganglia is the primary location of degeneration, specifically the striatum located within it. The primary role of the basal ganglia is to coordinate movement so that it is smooth2. When the striatum degenerates, there is a decreased ability to inhibit unwanted movement3. This leads to an excessive amount of involuntary movement, known as chorea. HD affects the ability of individuals to move, think, and behave. HD typically first appears at the age of 30 to 40, however symptoms may present at any point in life1. HD occuring before the age of 20 is called juvenile Huntington’s disease.
Pathophysiology
Presentation
Signs & Symptoms
Purpose of Discussing HD in a Case Study Format
Client Characteristics
Examination Findings
Subjective
History of Present Illness (HPI)
Past Medical History (PMHx)
Family History
Medications
Social History (SHx)
Health Habits (HH)
Current Functional Status (FnSt)
Functional History (FnHx)
Objective
Observation
Vital Signs
AROM & PROM
Strength
Neurological Scan
Balance
Ambulation
Cognitive Functioning
Outcome Measures
Berg Balance Scale (BBS)
Timed Up and Go (TUG) Test
Unified Huntington's Disease Rating Scale (UHDRS)
Montreal Cognitive Assessment (MoCA)
Short Form 36 (SF-36)
Clinical Impression
Problem List
Diagnosis
Interventions
Patient Centered Goals
Intervention Approaches & Techniques
Interdisciplinary Care Team Management
Physiotherapy
Occupational Therapy
Social Worker
Psychologist
Speech Language Pathologist
Physician
Outcome Reassessment - 6 Months Post-Referral
Berg Balance Scale (BBS)
Timed Up and Go (TUG) Test
Referrals
Discharge Planning
Discussion
Case Summary
Broader Implications
Self-Study Questions
References
- ↑ Folstein SE. Huntington's Disease: A Disorder of Families. The Johns Hopkins University Press. 1989