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Huntington's Disease (HD) is an autosomal dominant progressive neurodegenerative disorder. Its clinical picture is characterized by chorea, rigidity, dystonia, incoordination, cognitive decline and behavioural manifestations. HD derives from an abnormal expansion of CAG trinucleotid repeat in the 5' translated region on the huntingtin gene. This expansion results in polyglutamine tract in the huntingtin protein. Symptom manifestation is about 50 years of age. In 10 % of cases symptom onset develops before 20 years of age. 

CLINICAL FEATURES

 

  • Hopelessness

  • Apathy

  • Anxiety

  • Stress

  • Delusions  and compulsions (5-12% cases)

  • ​Hipersexuality (5% cases)

  • Restlessness

  • Tendency towards suicide 

  • Depression

  • Paranoia

TYPES OF HD

Symptomes range and timing are variable among patients.

SUMMARY

  • Lack of emotions

  • Failure to recognition of others'needs

  • Irritability

  • Moodiness

  • Euphoria and aggression

Neuropsychiatric symptoms

First to appear

  • Dementia

  • Abnormal awareness and perception

Progressive degeneration

Cognitive symptoms

  • Abnormal facial movements

  • Involuntary limbs'movements and other parts

  • Difficulties in swallowing (improper movement of mouth muscles)

  • Loss of co-ordination

  • Steady gait

Motor symptoms

Progressive degeneration

The girl in the video suffers Juvenile HD. We can appreciate HD symptoms such as ridigity and abnormal limb movements

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