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Hutington’s Disease
Mr Yogendra Mehta
Lecturer, KMTRC
Introduction
• Huntington's disease is an inherited disease that causes the progressive
breakdown (degeneration) of nerve cells in the brain.
• Huntington's disease has a broad impact on a person's functional abilities
and usually results in movement, thinking (cognitive) and psychiatric
disorders.
• Most people with Huntington's disease develop signs and symptoms in their
30s or 40s. But the disease may emerge earlier or later in life.
• When the disease develops before age 20, the condition is called
juvenile Huntington's disease.
Causes
• Inherited defect in a single gene.
Clinical Features
Movement disorders
Include both involuntary movement problems and impairments in
voluntary movements, such as:
• Involuntary jerking or writhing movements (chorea)
• Muscle problems, such as rigidity or muscle contracture (dystonia)
• Slow or abnormal eye movements
• Impaired gait, posture and balance
• Difficulty with the physical production of speech or swallowing
Contd…….
Cognitive disorders
• Difficulty organizing, prioritizing or focusing on tasks
• Lack of flexibility or the tendency to get stuck on a thought, behavior
or action (perseveration)
• Lack of impulse control that can result in outbursts, acting without thinking
and sexual promiscuity
• Lack of awareness of one's own behaviors and abilities
• Slowness in processing thoughts or ''finding'' words
• Difficulty in learning new information
Contd…….
Psychiatric disorders
• Depression
• Obsessive-compulsive disorder
• Mania
Diagnosis
Neurological examination
• Motor symptoms
• Reflexes
• Muscle strength
• Muscle tone
• Coordination
• Balance
• Sensory symptoms
• Sense of touch
• Vision and eye movement
• Hearing
Contd…….
Psychiatric symptoms
• Mental status
• Mood
Neuropsychological testing
• Memory
• Reasoning
• Language function
Genetic Testing
Treatment
No treatments can alter the course of Huntington's disease.
Medications for movement disorders
• Tetrabenazine
• Antipsychotic drugs, such as haloperidol (Haldol) and chlorpromazine
• Other drugs: amantadine, levetiracetam (Keppra, others) and
clonazepam (Klonopin) to controll chorea
• Antidepressant drugs: fluoxetine (Prozac, Sarafem) and sertraline
(Zoloft).
• Mood stabilizing drugs: valproate (Depacon), carbamazepine
(Carbatrol, Epitol, Tegretol) and lamotrigine (Lamictal).
Contd…..
Psychotherapy
Speech therapy
Physical therapy
Occupational therapy
• Handrails at home
• Assistive devices for activities such as bathing and dressing
• Eating and drinking utensils adapted for people with limited fine
motor skills
Hutington’s Disease.pptx

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  • 1. Hutington’s Disease Mr Yogendra Mehta Lecturer, KMTRC
  • 2. Introduction • Huntington's disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. • Huntington's disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders. • Most people with Huntington's disease develop signs and symptoms in their 30s or 40s. But the disease may emerge earlier or later in life. • When the disease develops before age 20, the condition is called juvenile Huntington's disease.
  • 3. Causes • Inherited defect in a single gene.
  • 4. Clinical Features Movement disorders Include both involuntary movement problems and impairments in voluntary movements, such as: • Involuntary jerking or writhing movements (chorea) • Muscle problems, such as rigidity or muscle contracture (dystonia) • Slow or abnormal eye movements • Impaired gait, posture and balance • Difficulty with the physical production of speech or swallowing
  • 5. Contd……. Cognitive disorders • Difficulty organizing, prioritizing or focusing on tasks • Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration) • Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity • Lack of awareness of one's own behaviors and abilities • Slowness in processing thoughts or ''finding'' words • Difficulty in learning new information
  • 6. Contd……. Psychiatric disorders • Depression • Obsessive-compulsive disorder • Mania
  • 7. Diagnosis Neurological examination • Motor symptoms • Reflexes • Muscle strength • Muscle tone • Coordination • Balance • Sensory symptoms • Sense of touch • Vision and eye movement • Hearing
  • 8. Contd……. Psychiatric symptoms • Mental status • Mood Neuropsychological testing • Memory • Reasoning • Language function Genetic Testing
  • 9. Treatment No treatments can alter the course of Huntington's disease. Medications for movement disorders • Tetrabenazine • Antipsychotic drugs, such as haloperidol (Haldol) and chlorpromazine • Other drugs: amantadine, levetiracetam (Keppra, others) and clonazepam (Klonopin) to controll chorea • Antidepressant drugs: fluoxetine (Prozac, Sarafem) and sertraline (Zoloft). • Mood stabilizing drugs: valproate (Depacon), carbamazepine (Carbatrol, Epitol, Tegretol) and lamotrigine (Lamictal).
  • 10. Contd….. Psychotherapy Speech therapy Physical therapy Occupational therapy • Handrails at home • Assistive devices for activities such as bathing and dressing • Eating and drinking utensils adapted for people with limited fine motor skills