Huntington Disease
Huntington Disease
Huntington disease is an infrequent type of hereditary disorder in which there is degeneration of neurons in the brain. This disorder leads to the disturbance in spectrum of abilities like movement, cognitive and psychiatric aspects.
Symptoms
Signs and symptoms include:
- Chorea which is involuntary jerking or writhing movements
- Muscle rigidity and contracture
- Abnormally slow eye movements
- Impairment in gait, posture and balance
- Problematic swallowing and speech
- Difficulty in organizing
- Difficulty in making judgements
- Sexual promiscuity and lack of control of emotional impulse
- Slow processing in thoughts
- Social withdrawal
- Insomnia
- Fatigue
- Suicidal thoughts
- Irritability
Signs and symptoms of juvenile Huntington’s disease are
- Problematic paying attention
- Problems in behavior
- Affected gait that result because of contracted and rigid muscles.
- Tremors
- Clumsiness and frequent falling
Causes
The main cause of Huntington’s disease is the genetic mutation in a single gene. It is an autosomal dominant disorder which can cause disease with only one defective gene.
Complications
Major complications of this condition are:
- Severe clinical depression
- Increase suicide risk
- Pneumonia and other related infections
- Falls can lead to injuries
- Complications because of inability to swallow
Diagnosis
Diagnosis of this condition depends upon detailed medical history and complete general physical examination of patient. Other tests and investigations include:
- Neurological examination
- Neurophysiological testing
- Psychiatric evaluation
- Brain imaging and function
- Genetic counseling and testing
- Predictive genetic tests
Treatment
Treatment options include:
- Medications for movement disorders are prescribed tetrabenazine (Xenazine) and deutetrabenazine (Austedo), antipsychotics and other medications like amantadine (Gocovri ER, Osmolex ER), levetiracetam (Keppra, Elepsia XR, Spritam).
- Medications for psychiatric disorders are prescribed like antidepressants, antipsychotics and mood stabilizers.
- Psychotherapy
- Speech therapy
- Physical therapy
- Occasional therapy