Early signs of HD can vary, but often include mild clumsiness or problems with balance or movement, cognitive or psychiatric symptoms (problems with thinking or emotion), and changes in behavior. For some people, chorea can make it harder to walk, which increases the chances of falling.
Early symptoms
The first symptoms of Huntington's disease often include: difficulty concentrating. memory lapses. depression – including low mood, a lack of interest in things, and feelings of hopelessness.
People can start to show the symptoms of Huntington's disease at almost any age. Most will develop problems between the ages of 30 and 50. The condition gradually gets worse for around 10-25 years, until the person dies.
Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea.
Huntington's disease impairs the functioning of the brain, which can result in apathy, trouble organizing, impulsivity, irritability and anger, unawareness, disinhibition, preservation, and other psychiatric symptoms. These emotional and behavioral symptoms can further complicate the caregiver's role.
Huntington's disease is caused by a faulty gene that results in parts of the brain becoming gradually damaged over time. You're usually only at risk of developing it if one of your parents has or had it. Both men and women can get it.
From the onset of symptoms, people with HD have a life expectancy of 10 to 25 years. HD is not evident at birth. In fact, symptoms will usually not appear until a person is between 35 and 55 years of age, and occasionally even later in life.
Lots of people at risk of Huntington's disease decide they'd rather not know until any symptoms appear. If you do want to know, ask your GP for a referral to a genetic counsellor. You'll have several appointments with the counsellor.
To make a diagnosis of Huntington's disease (HD), a genetic test, using a blood sample, will be performed. This test is usually combined with a complete medical history and other neurological and laboratory tests. For individuals who are at risk of carrying the HD gene, testing can be performed before symptoms occur.
The disease is staged based on your motor function and ability to complete everyday tasks. Typically, HD progresses for 10 to 30 years. Most people with HD die from complications related to the disease. There is no cure for HD, and current medications can only relieve its symptoms, not slow or delay the progression.
Autosomal-dominant diseases that can mimic HD are HD-like 2, C9orf72 mutations, spinocerebellar ataxia type 2, spinocerebellar ataxia type 17 (HD-like 4), benign hereditary chorea, neuroferritinopathy (neurodegeneration with brain iron accumulation type 3), dentatorubropallidoluysian atrophy and HD-like 1.
The most painful conditions in Huntington's, said Achterberg, are limb pain, headache, abdominal pain and fractures. “I think we should do more work in validation of pain tools, including observational pain instruments,” he said. “And for clinicians, I suggest you be especially aware of abdominal pain.”
On neuroimaging atrophy of the corpus striatum involving the caudate and putamen is seen. This change generally proceeds from medial to lateral and dorsal to ventral. These changes are better appreciated on MRI than on CT.
Some authors define LoHD as after 50 years [3–5], but more recent studies define LoHD as onset after 60 years [6–10]. Between 4.4–11.5% of individuals with HD have an onset age of over 60 [8, 10, 11]. Reported presentation of LoHD varies, and the natural history and prognosis of LoHD remains unclear.
Stage 1: Early Stage
Involuntary twitches in the toes, face or fingers. Struggling to concentrate or solve problems. Low coordination. Issues with doing complex movements.
Huntington's disease affects approximately 30,000 people in the United States. If left untreated, it can lead to serious liver disease, central nervous system issues and death.
Symptoms typically emerge from age 30 to 50, but also can develop in children and older adults.
Many people with Huntington's disease report that their sleep patterns are affected and sometimes are awake most of the night, then continually catnap or doze throughout the day. Many find themselves experiencing long periods being awake or asleep.
There have been reports that juvenile onset Huntington's chorea is almost always inherited from the father, and that late-onset Huntington's chorea is inherited more often from the mother than from the father.
Pneumonia and heart disease are the two leading causes of death for people with HD.
It affects males and females equally and crosses all ethnic and racial boundaries. Typically, symptoms begin between age 30 and 55. Children of parents with Huntington's disease have a 50 percent chance of inheriting the HD gene.
Huntington's disease is a progressive brain disorder caused by a single defective gene on chromosome 4 — one of the 23 human chromosomes that carry a person's entire genetic code. This defect is "dominant," meaning that anyone who inherits it from a parent with Huntington's will eventually develop the disease.
Noticeable changes in personality. Involuntary movements (chorea) and unsteady gait. Slurred speech. Difficulty swallowing and significant weight loss.
People with Huntington's may also be less able to control their emotions, possibly leading to outbursts of screaming, swearing, slamming doors, hitting walls, or the like. Patterns of behavior can change as the disease progresses.