Huntington´s Disease (HD) is a rare, hereditary, neurodegenerative illness that affects people of all races worldwide. The disease was named after Dr. George Huntington, a physician from Long Island, United States of America, who first published a description of “hereditary chorea” in 1872.  It was due to his essay, entitled On Chorea, that the disorder became known as Huntington´s Chorea. The term chorea is the Greek word for “dance” and refers to the involuntary movements which are seen in many individuals with HD. Uma vez que coreia não é o único sintoma, a doença mudou de nome para Doença de Huntington.

For a long time, little was known or published about HD. In the last 30 years, however, we have learnt a lot about the cause of HD and its effects, as well as the therapies and techniques for managing its symptoms. The gene that causes HD was discovered in 1993 and since then important scientific advances have been made.  To date, there are no drugs to slow or stop the progression of Huntington’s Disease, but scientists are getting closer each day to finding a disease modifying treatment.

HD causes gradual degeneration of brain cells which in turn can result in physical, cognitive and emotional symptoms, which typically become apparent between the ages of 35 and 55, but can also appear much earlier (Juvenile-Onset HD) or later (late onset HD).   

In most cases, individuals affected by HD can maintain their independence for several years after the first symptoms appear. A knowledgeable physician can prescribe treatment to minimize the impact. Allied health professionals, such as social workers, occupational and physical therapists, speech therapists and nutritionists, can all play a useful role in maximizing abilities and prolonging independence.

Genetics

Huntington´s Disease is a hereditary disorder.  Each child of a parent who has HD has a 50% chance of inheriting it.  HD occurs in all races.  Males and females are equally at risk.  Carriers of the HD gene will eventually develop the disease should they live long enough.

Globally, there is estimated to be between 3.6 and 5.7 people with HD for every 100,000 of population. 

Sintomas

HD symptoms can vary significantly from person to person, even among siblings. Symptoms don’t appear in any specific order. Over the course of the disease, some symptoms may be more dominant than others. For some, involuntary movements may be more dominant, even in the early stages, while for others emotional and behavioural disturbances are more worrying, and often go undiagnosed.

    Slight intellectual changes are often the first signs of cognitive disturbance.  These can lead to the reduced ability to cope with new situations or perform routine tasks. Below are the most common cognitive HD symptoms:

    • Dificuldade em organizar, priorizar ou focar-se em tarefas
    • Lack of flexibility or the tendency to get stuck on a thought, behaviour or action
    • Pouco controlo dos impulsos, o que pode resultar em explosões, reagir sem pensar e promiscuidade sexual
    • Lack of awareness of one’s own behaviours and abilities
    • Slowness in processing thoughts or finding words
    • Dificuldade em aprender nova informação

    Physical symptoms can include involuntary movements and the impairment of voluntary movements. Involuntary movements typically progress through the middle stages of HD but decline as rigidity increases in the later stages.  Listed below are some of the symptoms:

    • Espasmos involuntários ou contorções (coreia)
    • Muscle problems, such as rigidity or muscle contracture
    • Movimentos oculares lentos ou anormais
    • Marcha, postura e equilíbrio prejudicados
    • Dificuldade com a produção física do discurso ou engolir

    De acordo com a Mayo Clinic, impairment in voluntary movements — rather than the involuntary movements — may have a greater impact on a person’s ability to work, perform daily activities, communicate and remain independent. In addition to the above symptoms, weight loss is common in people with Huntington’s Disease, especially as the disease progresses.

    The most common emotional/psychological disturbance associated with HD is depression. Some people can experience depression for months or even years before it is recognised as an early symptom of HD.  Listed below are some of the other emotional symptoms:

    • Sentimentos de irritabilidade, tristeza ou apatia
    • Retraimento social
    • Insónias
    • Fatiga e perda de energia
    • Pensamentos frequentes de morte ou suicídio

    Disease Progression

    According to Dr. Ira Shoulson, the progress of HD can be divided into five stages that are flexible after diagnosis:

    Pessoas com HD usualmente falecem 15 a 20 anos após os primeiros sintomas aparecerem. A causa da morte não é a doença em si, mas as complicações como pneumonia, insuficiência cardíaca ou desenvolvimento de infeções devido ao estado fragilizado do corpo.

    HD e a Família

    HD impacts the entire family. As it progresses, the role of the patient gradually changes. The partner/spouse often has to assume more and more responsibility for housekeeping, decision-making and parenting and often assumes the role of primary care giver as well.  It takes a physical, emotional and financial toll.

    Children and adolescents must face living with a mother or father who is ill and whose behaviour may be erratic. They may even be asked to participate in the parent’s care. For parents, telling children about HD can pose difficulties. Should a child be told about HD? If so, at what age? When is a child old enough to cope with the idea of being at risk for HD?

    Não há respostas fáceis, particularmente uma vez que as crianças maturam de diferentes maneiras e cada situação familiar é diferente. Genericamente, é uma boa ideia ser tão aberto quanto possível, sem criar alarmismos

    The Huntington Disease Youth Organization (HDYO), is dedicated to helping young people and their parents learn about HD and learn to live and cope with it.

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