Huntington’s Disease: A movement disorder

1. Huntington’s Disease: A movement disorder By Alisha Johnson

2. Objectives Develop an understanding of Huntington’s Disease Describe the inheritance and mutation of a normal gene List and describe the signs and symptoms of Huntington’s Disease Understand and reflect on the effects of Huntington’s Disease Know the different kinds of treatments for Huntington’s Disease, including Physical Therapy

3. What is Huntington’s Disease (HD) HD is a hereditary, progressive and devastating CNS disorder characterized by degeneration and atrophy of the basal ganglia and cerebral cortex within the brain. HD decreases an individuals ability to walk, talk and reason. It is characterized by the develop of emotional, behavioral and psychiatric abnormalities. The prevalence is approximately 6 : 100,000 in North America with 25,000 currently diagnosed with HD in the United States The average age of development of signs & symptoms is between 35-55 years. Early onset begins before the 20’s, which is more rare & progresses faster. Life expectancy is around 15-20 years after diagnosis, ultimately dying from pneumonia or complications from falls.

4. Inheritance of HD HD is passed from parent to child through a mutation of a normal gene. A child with a parent who has HD has a 50% chance of inheriting the disease. A gene is a string of DNA in combinations of Adenine, Thymine, Cytosine & Guanine: A, T, C, G. The HD genetic defect is a sequence of Cytosine, Adenine and Guanine on chromosome 4 where the base pairs are repeated “CAGCAGCAGCAGCAG”. The more CAG repeats on chromosome 4, the more likely you are to inherit the disease…

5. Number of CAG repeats The more repeats you have, the younger you are when you start developing signs and symptoms.

6. Inheritance of HD

7. Signs and Symptoms of HD • Cognitive • Problems with short term memory, organizing, coping and concentrating Emotional Anxiety Depression Irritability Aggressive outbursts Mood swings Social withdrawal Motor Fidgety Uncoordinated Involuntary movements Difficulty with speech, swallowing, walking and balance

8. Reported prevalence of behavioral and psychiatric symptoms in HD Irritability 38–73% Apathy 34–76% Anxiety 34–61% Depressed mood 33–69% Obsessive and compulsive 10–52% Psychotic 3–11%

9. Effects of the Disease The earlier the symptoms appear, the faster the disease progresses. Early signs will vary, but most people notice behavioral problems like anger, depression and anxiety. Others experience changes in judgment or memory or physical changes like uncontrolled movements –called chorea- in the hands, fingers, face or trunk. The movements are worsened with anxiety. The disease progresses to slurred speech, dysphagia, difficulty eating, speaking, and especially walking. Some individuals cannot distinguish family members while others remain aware of their environment and are able to express emotions.

10. Treatment for HD General Treatment Huntington’s Disease Society of America-Utah Support Group Genetic Counseling Psychologist/Psychiatrist Pharmacological Support Groups 2nd Thursday of each month at 6:00 pm Imaging & Neurosciences Center at University of Utah Healthcare 729 Arapeen Dr SLC, UT in the large conference room

11. Pharmacological Treatment There is no cure for HD. There are many clinical trials currently running that show potential. Tetrabenazine is the first drug approved by the FDA to treat the choreic movements of the disease. Antipsychotic drugs may help the choreic movements, control hallucinations, delusions, and violent outbursts, but are not prescribed for dystonia, a form of muscle contraction associated with HD, which may worsen the condition, causing stiffness, rigidity & involuntary muscle contractions. In a study, a drug called cystamine alleviates tremors and increases the lifespan in mice with the mutated gene for HD. Cystamine works by increasing the protein activity that protect nerve cells from degeneration. The study suggests that a similar treatment may be useful in humans with HD and related disorders.

12. Physical Therapy for HD Physical therapy should maximize strength, endurance, balance, postural control and functional mobility. Intervention should focus on motor control and techniques that include co-activation of muscles, trunk stabilization, the use of biofeedback and relaxation techniques. Family involvement and caregiver teaching should be emphasized.

13. HD HEP Flexibility & Warm-Up Balance & Coordination Neck stretches Shoulder rolls Shoulder abduction/adduction Hand stretches Ankle circles Gastrocnemius stretch Hamstring stretch Quadriceps stretch Prone press-up Kneeling child’s pose Standing on altered surface Wide to narrow BOS Standing with eyes open Standing with eyes closed Single leg stance Tandem stance Forward lunges Side lunges

14. HD HEP Circuit Resistance Training Strengthening Sit-to-stand repetitions Shoulder press with weights Squatting and mini squats Shoulder abduction with weights Trunk rotations and reaching with weights Step-ups CKC exercises Bridging Alternate arm and leg raises in supine and prone positions Planks for core strength Instruction on getting on/off the floor PNF

15. HD HEP Cool Down and Relaxation Patient/Family Education Cat/camel stretch Gentle yoga Gentle massage Aquatic therapy Trunk rotations Breathing exercises As the patients functioning decreases, the caregiver will need to be educated on: Posture Proper body mechanics Transfers Mobility The use of adaptive and assistive devices.

16. Physical Therapy for HD, cont. PT is recommended on an intermittent basis throughout the disease course. PT will not prevent further degeneration, but it will maximize the patients functional potential and safety. The goal of PT is to attain an optimal functional outcome within the limitations of the disease process. Late stages result in full physical and mental disability. The patient usually requires an extended care facility due to physical, cognitive and emotional dysfunction.

17. Websites for additional informational about Huntington’s Disease http://healthcare.utah.edu/neurosciences/neurology/neurology_movement_disorders/huntington_disease.php http://www.hdsa.org/

18. Team Hope Walk- Utah 1st Annual Utah Team Hope Walk Date: Saturday, September 29, 2012 at 8:00 AM Location: Draper City ParkDraper, Utah This is an event for the entire family! Registration starts at 8:00am, opening ceremony is at 10:00 with the walk taking place directly after. There is no set registration fee, but donations are welcome!

19. Works Cited Karpuj MV, Becher MW, Springer JE, Chabas D, Youssef S, Pedotti R, Mitchell D, Steinman L. "Prolonged survival and decreased abnormal movements in transgenic model of Huntington's disease, with administration of the transglutaminase inhibitor cystamine." Nature Medicine, February 2002, Vol. 8, No. 2, pp. 143-149. "Huntington's Disease: Hope Through Research," NINDS. NIH Publication No. 98-49 Ho A, Hocaoglu M. Impact of Huntington's across the entire disease spectrum: the phases and stages of disease from the patient perspective. Clinical Genetics [serial online]. September 2011;80(3):235-239. Available from: Academic Search Premier, Ipswich, MA. Accessed September 19, 2012. Hanan Khalil, Lori Quinn, Robert van Deusen, Richard Martin, Anne Rosser and Monica Busse. “Adherence to Use of a Home-Based Exercise DVD in People With Huntington Disease: Participant’ Perspectives” PHYS THER. 2012; 92:69-82. September 29, 2011 Vol. 92 no. Issue 9

20. Questions or Comments?