Huntington’s disease
Huntington’s disease is a genetic disorder affecting the central nervous system and which causes the progressive degeneration of brain cells. This leads to the degeneration of motor skills and cognitive abilities, as well as behavioral difficulties. This is a rare disease, affecting a mere 7 to 10 people in 100,000, and affecting men and women in equal measure. The therapy involves treating the symptoms of the disease.
Cause
Huntington’s disease is caused by a gene defect located in the Huntingtin gene chromosome 4. The defective gene causes the slow, progressive death of nerve cells in the brain. These changes are responsible for the various symptoms of the hereditary, autosomal dominant disease. Autosomal dominant means that only one parent needs to possess the abnormal gene in order for the child to have a 50% risk of inheriting the defective gene. Whoever possesses the defective gene will become sick sooner or later.
Symptoms
Duration
The disease most often appears in adults between the ages of 40 and 50. However, Huntington’s disease can also appear in children as young as 1 or in adults as old as 80. The latter form of Huntington’s is, however, very rare. Huntington’s manifests itself through motor dysfunction and through emotional changes that can vary extensively.
Chorea and other motor dysfunctions
Typical motor dysfunctions consist of jerky, involuntary movements of the arms (e.g. finger and hands), the legs, the torso and the face (chorea: Greek for dance). At the beginning, family members and friends often fail to see the symptoms for what they really are, instead they interpret the sick person’s staggering and slurring as drunkenness.
Aside from the considerable motor dysfunctions, one will also notice swallowing and speaking impairments in later phases. Difficulty in swallowing can lead to life-threatening situations.
Emotional and psychiatric problems
Early symptoms of Huntington’s usually include irritability, loss of motivation and a change in the emotional state. Another obvious symptom is the diminishment of mental faculties to the point of dementia. Vegetative symptoms such as a lack of appetite and sleep can also occur.
Patients with Huntington's disease also go through emotional changes. They can become emotionally closed, moody and aggressive. Some patients start having delusions and develop a psychosis as their disease progresses.
Depression can be a symptom of the disease or it can be a reaction to the realization that one has the disease.
Source:
https://ghr.nlm.nih.gov/condition/huntington-disease#diagnosis