The first symptoms of Huntington's disease often include subtle changes in mood (like irritability, depression), thinking (difficulty planning, focusing), and movement (clumsiness, small twitches or chorea), typically appearing in a person's 30s or 40s, though they can start earlier or later, with some noticing mood/behavior issues before physical signs. Early motor symptoms might be minor fidgeting, loss of fine coordination (like handwriting), or balance problems, while cognitive/emotional changes can include personality shifts or trouble concentrating.
Symptoms of Huntington's disease
In our clinical experience at a Huntington's disease specialty clinic, we have consistently noted adverse patient reports of symptoms such as urinary frequency, urgency, incontinence (both urinary and fecal), constipation, chronic diarrhea, and sexual dysfunction among individuals with HD, often in combination.
The Huntington genetic test is a blood test to check for the genetic disease. If you have a family member who has Huntington disease, their blood usually is tested first to identify the changed gene that might run in your family. Then you give a blood sample, which is screened for the gene change.
HD affects the whole brain, but certain areas are more vulnerable than others. Pictured above in blue is the striatum – an area deep in the brain that plays a key role in movement, mood, and behavior control. The striatum is the part of the brain that is most affected by HD.
Symptoms of Huntington's disease usually develop between ages 30 and 50, but they can appear as early as age 2 or as late as 80. The hallmark symptom of Huntington's disease is uncontrolled movement of the arms, legs, head, face and upper body.
Signs and symptoms usually start slowly and get worse over time. One of the first signs is chorea. This is a jerky or twisting movement you can't control. Chorea often begins in your hands, fingers or face.
The most common signs of Huntington's disease include:
Cognitive changes, including difficulty with focus, memory and decision-making. Slower processing of information. Trouble organizing or completing tasks. Mood swings or irritability.
Brain-imaging and function tests
These images may reveal changes in the brain in areas affected by Huntington's disease. These changes may not show up early in the course of the disease. These tests also can be used to rule out other conditions that may be causing symptoms.
Of all the psychiatric manifestations of HD, the executive dysfunction syndrome of HD, while difficult to define and characterize, may be the most common. Individuals with this syndrome may become apathetic, irritable, disinhibited, impulsive, obsessional, and perseverative.
Clinical characteristics included wide-based station, lateral swaying, spontaneous knee flexion, variable cadence, and parkinsonian features. Biomechanical analysis illustrated that gait characteristics varied in each walk, with a mean decrease in velocity, stride length, and cadence.
In addition to the cognitive, motor and neuropsychiatric symptoms, which likely relate to brain changes, people with Huntington's disease also experience a range of gastrointestinal disturbances, including diarrhoea, nutrient deficiencies, gastritis and unintended weight-loss, which are considered clinical features of ...
It is important to remember that these outbursts of anger are commonly the result of the brain changes in HD, and the person with HD may not understand that you are trying to help them. These brain changes can make it difficult or impossible for someone with HD to view situations from the perspectives of others.
The disease affects a person's movements, thinking ability and mental health. Huntington's disease is rare. It's often passed down through a changed gene from a parent. Huntington's disease symptoms can develop at any time, but they often begin when people are in their 30s or 40s.
The movement disorders associated with Huntington's are usually noticeable in involuntary movements, such as of the head, hands, arms, legs, and trunk, and also in tic-like muscle twitches such as blinking of the eyes or a contortion of the mouth.
The most effective and accurate method of testing for HD—called the direct genetic test—counts the number of CAG repeats in the HD gene, using DNA taken from a blood sample. The presence of 36 or more repeats supports a diagnosis of HD.
Eye symptoms associated with Huntington's disease include ocular motility problems, like different characteristics of saccades, pursuit and fixation abnormalities, as well as retinal thinning.
White matter lesions, visualized as hyperintensities on magnetic resonance imaging (MRI) scans, signify abnormal myelination in the brain and serve as markers for small vessel disease. They are considered a marker of small vessel disease. However, there are numerous non-vascular causes, as well.
Speech changes are typically mild initially but can get worse over time. Speech can become slurred (if muscles in the face and tongue become weak) or lose its natural rhythm and sound 'jerky' (if you have difficulty coordinating your breathing with speech).
The neuropsychiatric symptoms of Huntington's disease often mimics those of bipolar disorder, leading to frequent misdiagnosis. A comprehensive clinical evaluation that includes genetic testing, neuroimaging, and consideration of both neuropsychiatric and motor symptoms is crucial for accurate diagnosis.
In early stage HD, individuals are largely functional and may continue to work, drive, handle money, and live independently. Symptoms may include minor involuntary movements, subtle loss of coordination, difficulty thinking through complex problems, and perhaps some depression, irritability, or disinhibition.
Most people usually notice clumsiness or uncontrolled body movements as their first symptom. Mood or behavior changes or thinking problems are some of the first possible symptoms of Huntington's disease. Early symptoms of Huntington's disease include: Clumsiness.
Overview of HD's Behavioral and Psychiatric Symptoms
People with HD may suffer from depression and other conditions found in the general population, such as mania, obsessive compulsive disorder, or various forms of psychosis.
During a recent conversation, Dylan's visit with ailing singer-songwriter Woody Guthrie came up. My friends hadn't realized that Guthrie had Huntington's disease — which they knew as the same disease that's affected several generations of my family. (I recently tested negative for Huntington's, thankfully.)
[4] Even though previous workers had reported this condition, it was the lucidity and clarity of expression, which marked Huntington's description and that earned him the eponym “Huntington's disease” (HD), previously known as “Huntington's chorea.”