Disease Symptoms

Huntington's disease is an incurable, severe neurodegenerative genetic disorder affecting the cognitive activity and the motor coordination.  The disease is determined by a mutation with a dominant autosomal transmission. The age of the onset varies from early childhood to old age but the disease begins in most cases between the age of 35 to 45. When the disease's symptoms starts to develop before the age of 20 the disease is called juvenile Huntington's disease or the Westphal variant of Huntington disease.

The symptoms of Huntington's disease vary from patient to patient. Still, the disease's classical pattern consists in progressive motor, cognitive and emotional deterioration. In the initial stages the changes are subtle, and the cognitive and psychological symptoms may go unnoticed, the first symptom the patient observes being represented by chorea, a classical symptom which consists in involuntary, uncontrolled, jerky, fidgety movements of the face, body and limbs. The loss of muscle control also affects masticatory muscles and the diaphragm, affecting the patient's eating habits and so, choking may occur. Speech habits may also occur due to the improper functioning of the mouth and larynx muscles. The more obvious signs of motor impairment follow in time (after about 3 years after the first clinical manifestations of the disease) and consist in rigidity, postural instability, dysphagia (difficulty in swallowing), dysarthria (slurred speech), impaired control of eye movement and  poor control of the tongue, mouth muscles and diaphragm.

The constant movement increases the caloric necessities and this, combined with the problems with nutrition leads to weight loss, mineral and vitamin deficiency leading to a reduced anti infectious resistance, and a slower wound healing process.

The behavioral changes consist in moos swings, short term memory lapses, lack of concentration and  lack of interest in personal hygiene. Depression, a common psychiatric feature of Huntington's disease is not only determined by the disease but also by the impact it has on the patient's life. As the disease progresses, the patient will begin to exhibit other psychiatric symptoms such as delusions, paranoia, hallucinations,  (suggesting psychosis), compulsive behavior, addictive behaviors.

The cognitive decline in the patients with Huntington's chorea affects abstract thincking, judgement and memory. The patient has problems in understanding new information, in focusing attention, in problem solving, in planning and initiating activities, in initiating or maintaining conversations. There can also be observed a loss of initiative and organizational skills. Another commonly associated symptom is represented by sleep disturbances.

It should be mentioned that in juvenile Huntington disease the  seizures are also a very common feature. The difference between juvenile Huntington's disease and the typical form of the disease is that in the first one the disease has a very rapid course, with brief episodes of chorea and its main clinical feature is represents by rigidity.