Huntington's disease is a genetic neurodegenerative disorder that typically causes movement, cognitive, and psychiatric problems. It is caused by an expanded CAG repeat in the Huntington gene, which leads to damage and death of nerve cells in the brain over time. The signs and symptoms of Huntington's disease usually appear between ages 30 and 50 and worsen over 10 to 25 years, progressing through distinct stages of mild, moderate, and severe problems with movement, thinking, and behavior. While there is no cure for Huntington's disease currently, medications and therapies can help manage some of the symptoms.

1. By:
Sachin Kumar
M.Pharm. (Pharmacology)
Dept. of pharma. sci.
M.D.U Rohtak Haryana

2. CONTENTS
• Introduction
• Signs and symptoms
• Stages of Huntington’s disease
• Causes and risk factors
• Pathophysiology
• Diagnosis
• Treatment of Huntington’s disease
• References

3. Clinical FeaturesClinical Features
• Huntington’s disease is a rapidly progressive
neurodegenerative disease that leads to
dementia.
• Typically presents with alterations in mood as
well as a change in character, defects in
memory and attention.
• Progresses to a movement disorder consisting
of involuntary, rapid motions.
• Usually not recognized until the patient is in their
early 30’s.

4. • Huntington’s is autosomal dominant.
• This means that anyone with ONE abnormal copy
of the gene will clinically have the disease.
• There are no carriers for Huntington’s.
• A parent with Huntington’s will have a 50%
chance of passing it on to their child.

5. SIGNS and SYMPTOMS
• Depression 40-80%
Anxiety 30-40%
Compulsion 10-20%
Apathy 20%
Episodic Anger common
Psychosis 5%
Irritability common

7. STAGES of HUNTINGTON’SSTAGES of HUNTINGTON’S
DISEASEDISEASE
There are five stage of HD
1. Preclinical
HD 2. Early stage
HD 3. Middle
stage HD 4. Late stage
HD 5. End of life

8. *HD is caused by a faulty gene that runs in
family.
*Normal copy of gene produce a protein
contain 5 to 35 repeat of
trinucleotides CAG called huntingtin
protein. *Gene encoding reach
more then 35 repeat CAG cause HD.
*Faulty huntingtin protein
interfere with nerve function and damage
nerve cell.
CAUSES and RISK FACTORS

9. PATHOPHYSOLOGYPATHOPHYSOLOGY
*Striatum(located in basal ganglia) is most
affected by HD
* Motor control operates through three
pathways:
1. Direct pathway
2. Indirect pathway
3. Striatonigral pathway

11. DIRECT AND INDIRECT PATHWAY IN
CASE OF HD

12. STRATONIGRAL PATHWAY

13. DIGNOSIS of HD
- CT scan (computer tromograhy)
- MRI (magnetic resonance imaging)
1. Genetic testing
2. Genetic testing in pregnancy
3. Preimplantation genetic dignosis.

14. TREATMENT of HD
HD is incurable. There is no current
treatment that can reverse its progression
or slow it down.
MEDICATION:
1.For movement disorder
2.For psychiatric disorder
3.Psychotherapy
4.Speech therapy
5.Physical therapy

15. MEDICATIONS
• For movement disorder:-
a. Tetrabenazine
b. Antipsychotic drugs: Haloperidol,
Chlorpromazine
c. Other medication: Amantadine ,
Clonazepam

16. 2. For Psychiatric disorder:
a. Antidepressant: Citalopram, Sertaline,
Fluozentine
b. Antipsychotic drugs: Risperidone,
Olanzapine
c. Mood stabilizing agent: Valproate,
Carbamazipine

17. References
1: Goodman and Gilman, “The Pharmacological basics of
Therapeutics.” 1st
edition, page no.- 562-564
2: Huntington’s Disease Society of America centre of Excellence at UC
Davis. June 4, 2013. http://www.ucdmc.ucdavis.edu
3: National Center for Biotechnology Information – Entrez Gene
http://www.ncbi.nlm.nih.gov/ .
4: Bates, G., Harper, P., & Jones, L. Huntington’s Disease. New York:
Oxford University Press, 2002. pp. 28-37, 276-281.