Huntington's disease is a condition that damages nerve cells in the brain causing them to stop working properly. It's passed on (inherited) from a person's parents. The damage to the brain gets worse over time. It can affect movement, cognition (perception, awareness, thinking, judgement) and mental health.
Huntington disease is an autosomal dominant disorder characterized by chorea, neuropsychiatric symptoms, and progressive cognitive deterioration, usually beginning during middle age.
CAUSE : In Huntington disease, the caudate nucleus atrophies, the inhibitory medium spiny neurons in the corpus striatum degenerate, and levels of the neurotransmitters gamma-aminobutyric acid (GABA) and substance P decrease. Huntington disease results from a mutation in the huntingtin (HTT) gene (on chromosome 4), causing abnormal repetition of the DNA sequence CAG, which codes for the amino acid glutamine.
CLINICAL FEATURES - Huntington disease develop insidiously, starting at about age 35 to 40
EARLY SYMPTOMS-
o Behavioural changes are often the first symptoms of Huntington's disease. These changes often include:
o a lack of emotions and not recognising the needs of others
o periods of aggression, excitement, depression, antisocial behaviour and anger
o apathy - causing a person to appear lazy or have a lack of interest in hygiene and self care
o difficulty concentrating on more than one task and handling complex situations
o irritability and impulsiveness
LATER SYMPTOMS-
psychiatric problems - some people develop obsessive behaviors, delusional thoughts or behaviors, stubbornness, lack of self awareness, or suicidal thoughts
uncontrollable movements of the face, jerking, clicking or fidgety movements of the limbs and body.
DIAGNOSIS:
Clinical evaluation, confirmed by genetic testing.
Neuroimaging.
They'll examine you and test your thinking, eye movements, balance and walking. They'll find out if you have any involuntary movements, such as chorea (fidgety or jerky movements).
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