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  • What is Huntingdon Disease?
    Added by My Identity Doctor
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    May is Huntingdon Disease Awareness Month—I remember reading a book several years ago where a teenage character was facing this genetic disorder, inherited from his father, but that is the only time I have heard of Huntingdon Disease, and it was not the main focus of the book.
    Huntingdon Disease (HD, also known as Huntingdon Chorea—meaning ‘dance’ due to the nature of the disease) is an “autosomal dominant” disease, meaning a person only needs one copy of the gene to develop the condition—since a child inherits half of their genetic makeup from each parent, each child of a person with the genes for HD will have a 50% chance of developing the condition [1]. Huntingdon disease most often onsets in a person’s 30s or 40s, but it may onset in childhood or adolescence—onset before age 20 is considered Juvenile Huntingdon Disease. [1.1]
    Huntingdon Disease affects a person’s movement, cognitive function, and psychological (mental) health. Physical/movement related symptoms include jerky/shaky movements, rigid or contracted muscles (also known as dystonia), postural changes and abnormal gait and balance, and abnormal or slow eye movement. [1.2] The muscles of the mouth and throat may be affected, and producing the movements for speech, or swallowing issues, often occur. [1.2] Cognitive issues may also cause problems with turning thoughts into words which can affect communication. Cognitive disorders include those affecting executive functioning (organizing, planning, prioritizing) and focus. [1.2] Impulsivity, unawareness of what the person is doing or behaving (unawareness of self), and difficulty learning new information. [1.2] Weight loss is common as the disease progresses, and may be caused by a variety of factors. [1.2]
    Psychiatric or mental health issues also result from Huntingdon Disease. Depression is the most common—and the Mayo Clinic points out this is not simply depression as a reaction or in relation to any life-altering diagnosis; it is depression associated with HD. [1.2] Symptoms affecting psychological health include irritability, sadness and apathy, insomnia (inability to sleep), fatigue and low energy, thoughts of death, dying or suicide, and social withdrawal. [1.2] Specific mental health conditions linked to HD include obsessive compulsive disorder, mania (abnormal mood elevation, overactivity—such as not sleeping for days and being compelled to do things), and bipolar disorder (significant swings between depression and mania).
    Symptoms are different in children and may also manifest in ways they would not in adults. These symptoms include loss of academic progress (sudden drop in school performance) and/or physical abilities, and new behavioural problems. Gait (how a person walks) may change in younger children, due to muscles becoming rigid and contracting involuntarily, this muscle tension also causes issues with handwriting, shakiness (tremors) or “slight involuntary movements”. [1.2] Seizures may also occur. [1.2]
    A Huntingdon diagnosis can be scary to receive. Some families may opt for genetic counselling and in-vitro fertilization that allows doctors to test embryos for the HD gene before implanting the HD gene free embryos into the mother. [1.3] As HD is complicated, patients and families should receive support from a variety of sources, including others affected by HD, social workers, counsellors, and physicians (among many other professionals like physical, occupational and speech therapists who can help with the day to day effects of the disease). There is no specific treatment for HD that will slow the person’s symptom progression, but many medications are available to treat the symptoms that do result from Huntingdon Disease. [1.4]
    For those living with Huntingdon Disease, the many effects can be hard to manage, and with speech difficulties, can be difficult to communicate in an emergency. Consider wearing a Huntingdon Disease medical ID bracelet to ensure adequate care to all aspects of HD in an emergency. It is a good idea to engrave the contact phone number of a person familiar with your medical history to assist an emergency.
    Published by My Identity Doctor on May 12, 2017


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