In an article considered a classic in the history of medicine, written in 1872 by the North American doctor George Huntington, the disease which now bears his name was described for the first time as a neuro-degenerative disorder, characterised by involuntary arrhythmic and uncontrollable movements, amongst other symptoms.
According to Dr. Alexis Soto Lavastida, from a clinical point of view,the disease presents in several forms: motor, if the initial symptoms are involuntary movements; neuro-psychiatric, if it begins with depression, and anxiety, irritability, aggression and apathy appear; and mixed, if motor, cognitive-behavioral and neuropsychiatric symptoms are expressed from the beginning.
Professor Soto Lavastida is a first grade specialist in General Medicine and Neurology, and is a member of the Group of Movement Disorders and Neurodegenerative Diseases, National Institute of Neurology and Neurosurgery of the Ministry of Public Health.
Do we know how frequent it is in Cuba?
No. I can say that since our institute began a detailed consultation in 2001, we have studied 88 patients belonging to 56 families, which indicates to us, by comparison with the frequency with other neuro-degenerate diseases, that it is not common in our country.
There are no differences in regards to sex or skin colour. According to the age of presentation of the illness, it can be juvenile if it appears before 21 years; typical clinical manifestations occur between 35 and 45 years; and they are late if they emerge in old age. In general, the age of appearance oscillates between 25 and 40 years. It is shown before 21 years in five percent of these patients.
Is the cause exclusively of genetic origin?
It is autosomal dominant. That is to say, in order for a person to suffer from it, one of their parents must be ill or be a carrier of a genetic mutation. When the transmission is from parents to children a so called “genetic anticipation” can occur: the illness appears in offspring at an earlier age than in their parents. In our series of cases, three of the 88 patients attended to did not have a family history.
Are there techniques that allow identification for carriers of the illness before the symptoms develop or even in the uterus?
Yes. The molecular diagnosis can be pre-implantation (before implanting the embryo), pre-symptomatic and symptomatic (before the symptoms appear or if they are already present). The latter two are carried out in Cuba.
What symptoms or characteristics can warn of Huntington’s Disease?
Apathy in the person, anxiety, irritability, disorders in the control of impulses, poor judgement, slow and also involuntary and disorderly ocular movement, clumsiness and dysarthria (slurred speech).
In patients with a family history of the illness these symptoms suggest Huntington’s.
What clinical and laboratory procedures are used to establish a definitive diagnosis?
Following the clinical method: examination, detailed physical neurological examination and complementary techniques such as Axial Computer Tomography and Magnetic Resonance Imaging of the skull; and also molecular investigations.
Does the illness progress slowly or quickly?
In our experience and in that of other countries the progression and quality of the patient’s life is highly influenced by family support and medical monitoring.
What are the aims of the treatments?
Basically to improve and control the symptoms of the disease and, through genetic counselling, to offer support and advice for future offspring and general information to relatives.
They need specialised multidisciplinary consultations by a team of neurologists, clinical and molecular geneticists, psychiatrists, psychologists, nutritionists, physio-therapists, social workers and nurses.
In general, what is the prognosis?
In chronic cases, it is not possible to give a definite prognosis.
(Translated by Ollie Phelan – firstname.lastname@example.org)