Huntington's Disease Case Study

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.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