What is Huntington’s disease?
Huntington’s disease, also known as Huntington’s chorea, is a genetic neurodegenerative disorder that affects the brain. Huntington’s disease is caused by a mutation in the huntingtin gene (HTT), which is responsible for producing a protein called huntingtin. The mutation results in the production of an abnormal form of the huntingtin protein, which gradually damages certain areas of the brain, particularly the basal ganglia and cerebral cortex.
The symptoms of Huntington’s disease usually appear in adulthood, typically between the ages of 30 and 50, although they can occur at any age. The disease is characterized by a triad of motor, cognitive, and psychiatric symptoms.
What are the 5 stages of Huntington’s Disease?
Stage 1 – Early or Preclinical Stage:
- This stage is often referred to as the premanifest stage.
- Individuals in this stage do not exhibit significant motor symptoms but may experience subtle cognitive and psychiatric changes.
- The person may have a positive genetic test for Huntington’s disease but does not show clear signs of the disease.
Stage 2 – Early Stage:
- The early stage is characterized by the onset of noticeable motor symptoms.
- Symptoms may include involuntary movements (chorea), changes in coordination and balance, and mild difficulties with speech and swallowing.
- Cognitive and psychiatric symptoms, such as memory problems, decreased concentration, irritability, and depression, may also emerge.
Stage 3 – Middle Stage:
- The middle stage represents a progression of both motor and cognitive symptoms.
- Motor symptoms become more pronounced and interfere with daily activities and coordination.
- Significant difficulties with speech and swallowing may require assistance or adaptive devices.
- Cognitive decline becomes more evident, with increasing challenges in memory, attention, and problem-solving.
- Personality changes and psychiatric symptoms, such as anxiety and psychosis, may occur.
Stage 4 – Late or Advanced Stage:
- The late stage is characterized by severe motor and cognitive impairment.
- Individuals often require assistance with all activities of daily living, including eating, dressing, and toileting.
- The ability to walk or control movements may be lost, necessitating the use of a wheelchair.
- Communication becomes very limited, and the person may be nonverbal.
- Cognitive function declines significantly, leading to a profound loss of memory and executive functioning.
Stage 5 – End-Stage:
- This is the most advanced stage of Huntington’s disease.
- Individuals in this stage are entirely dependent on others for care, as they are unable to perform any activities independently.
- Muscle rigidity and contractures may develop, limiting movement.
- Swallowing difficulties and weight loss become more severe, increasing the risk of complications such as pneumonia.
- The individual may be bedridden and unresponsive.
- It’s important to note that the progression of Huntington’s disease can vary between individuals, and the specific symptoms and rate of progression may differ. Also, this staging system provides a general framework but may not capture the full range of experiences and symptoms for every person with Huntington’s disease.
Who discovered Huntington’s Disease, and when was it discovered?
The first healthcare expert who discovered and researched Huntington was Dr. George Huntington in 1872. He wrote the now-famous article “On Chorea,” in which he went into great depth on the East Hampton family with this strange ailment. Huntington’s chorea was the term given to the disorder throughout time, but as not all Huntington’s disease patients have chorea, the name was modified to Huntington’s disease.
An uncommon hereditary disease, Huntington’s disease is mainly acquired from a parent and impacts the brain. According to estimates, three to seven out of every 100,000 persons have Huntington’s disease. Additionally, when progressed, issues from it might cause death. Even though there is no cure, more research is being done to develop one. Additionally, some therapies may improve a person’s quality of life and provide confidence.
What is Chorea?
One of several recognized involuntary movements in Huntington’s disease is represented as chorea but is not fatal. Other involuntary movements include more typical ones like tremors and tics. Because the representation of chorea varies from person to person, it might be challenging to recognize chorea to the untrained eye. Rheumatic fever, pregnancy, Huntington’s disease, and adverse responses to drugs used to treat gastrointestinal and behavioral health issues are among the causes.
- Neurological illnesses are associated with at least two additional chorea-related motions.
- The hands and feet often involve athetosis, a constant stream of sluggish, twisted, or squirming-like movements. Among other doctor-recommended treatments and therapies, Tetrabenazine may be prescribed to help treat these movement symptoms as they may closely mirror the symptoms of Tardive Dyskinesia.
- Ballimus often entails more forceful motions, including frantic arm- or leg-flinging. Typically, the motions affect just one side of the body (hemiballism).
Occurrence of Chorea
Accurate figures on how many individuals experience chorea are unknown. Generally, chorea is a sign of another illness. The number of Americans with Huntington’s disease is about 30,000. According to medical professionals, 200,000 more individuals are at risk of Huntington’s disease since one or both of their parents have the hereditary disorder. The most typical sign of Huntington’s disease is chorea.
Rheumatic fever causes Sydenham chorea in roughly 4,000 children in the US each year. Untreated strep throat may lead to the dangerous consequence of rheumatic fever. Rheumatic fever is more likely to affect girls than boys. Generally, it affects children between the ages of 5 and 15.
Individuals of all ages can experience chorea. Moreover, the risk of chorea can be increased in specific groups of individuals, such as
People with a family history of Huntington’s disease:
The risk will be 50% that you will acquire Huntington’s disease if one of your parents has it. Typically, Huntington’s disease symptoms appear between the ages of 40 and 50. The most prevalent kind of chorea that is hereditary is Huntington’s disease.
Children who have had a rheumatic fever:
Rheumatic fever may lead to Sydenham chorea in children and adolescents, a side effect of untreated strep throat.
People with other medical conditions:
Chorea may be due to autoimmune conditions (like lupus), hormonal issues (like hyperthyroidism), and metabolic issues (like hypoglycemia). There is a vast list of other illnesses that may result in chorea.
Symptoms of Chorea
Regardless of the underlying cause of the movement condition, chorea symptoms mostly remain the same. The most typical chorea symptoms include:
Involuntary muscle movements:
Dance-like motions, often known as fidgety movements, typically include the hands, feet, and face. They may affect how you move, swallow, and speak. The motions might be smooth or a little erratic. They can make you seem to sing, play the piano, or even writhe in agony. When you’re upset or nervous, the motions often worsen and stop when you sleep.
One may attempt to shake someone’s hand, but instead of keeping your hand steady, you may repeatedly grab and release your fingers. Since it appears that you are milking a cow, doctors refer to this condition as a milkmaid’s grasp.
Jack-in-the-box tongue and Speech problems:
Your tongue can glide in and out of your mouth as you attempt to stick it out. Such a chorea symptom is also known as a jack-in-the-box tongue or a harlequin tongue.
Slurred speech may occur in both children and adults when the rhythm of the muscles that produce speech deteriorates.
Headaches and seizures:
Children who suffer from chorea after rheumatic fever may have headaches and convulsions. Some kids may struggle with emotional and behavioral problems.
Symptoms of Huntington’s disease
Huntington’s disease often introduces movement, cognitive, and psychological impairments, and its indications and symptoms may range considerably. It substantially differs from person to person, and symptoms manifest initially. While specific symptoms may be more prominent or have a more significant impact on functionality than others, this might alter during the illness.
Individuals’ capacity to work, carry out everyday activities, interact, and maintain independence may be more negatively impacted by impairments in voluntary movements than by limitations in involuntary movements.
Huntington’s disease-related movement abnormalities may affect both voluntary and involuntary motions, resulting in symptoms like:
- Writing movements and involuntary jerking
- Swallowing issues, and speech difficulty
- Unusual eye movements
- Issues with balance, posture, and gait
- Muscle rigidness and muscle contracture
The following are the cognitive issues related to Hungtington’s disease
- Lack of focus and difficulty in managing daily activities and tasks
- Inability to get stuck on actions and behaviour
- Sexual promiscuity or lack of impulse control
- Inability to learn new things and slowness in processing thoughts
Depression is the mental condition most frequently linked to Huntington’s disease, but this isn’t only a reaction to the Huntington’s disease diagnosis. However, brain damage and subsequent alterations in brain function seem to be the source of depression. Some warning signs and symptoms include:
- Suicidal thoughts
- Sadness, apathy, or feelings of irritability
- Lack of social interests
- Loss of energy and fatigue
How do they test for Huntington’s Disease?
Testing for Huntington’s disease typically involves a combination of clinical evaluations, genetic testing, and sometimes imaging techniques. It’s important to note that genetic testing for Huntington’s disease is typically offered to individuals who have symptoms or a family history suggestive of the disease. As Huntington’s disease is an autosomal dominant genetic disorder, a child of an affected individual has a 50% chance of inheriting the mutated gene. Predictive testing for individuals who have no symptoms but want to know their genetic status is available but requires careful consideration and counseling due to the potential psychological impact of the results.
How many people have Huntington’s Disease?
The exact number of people affected by Huntington’s disease (HD) worldwide is challenging to determine accurately. However, it is estimated that HD affects approximately 5 to 10 people per 100,000 individuals in many populations around the world.
According to the Huntington’s Disease Society of America, in the United States alone, approximately 30,000 individuals have symptomatic HD, and an additional 200,000 individuals are at risk of inheriting the disease or have the premanifest stage. HD occurs in all populations and ethnic groups worldwide, so the total number of affected individuals globally is likely to be higher.
It’s worth mentioning that HD is a relatively rare genetic disorder compared to other neurodegenerative conditions. The disease is caused by a mutation in the huntingtin gene, and individuals with a family history of HD have a 50% chance of inheriting the mutation. Genetic counseling and testing can help individuals assess their risk and make informed decisions regarding testing and family planning.
Should I take a ‘do I have Huntington’s Disease’ quiz?
While there may be a reputable quiz somewhere on the internet to help you decide whether to go see your doctor, actually finding a reputable resource may be tough. The fact is that you shouldn’t rely on an online format also used by teen magazines to make any decisions about your health or justify your wish to seek medical guidance. If you feel that you or a loved one may be experiencing chorea or any other symptoms of Huntington’s Disease the best thing to do is schedule an appointment as soon as possible with a licensed medical doctor.
What support is available for someone with Huntington’s Disease?
Depending on what type of support is needed, there are thousands of resources available to help a patient and those around them cope with the diagnosis and daily management of Huntington’s Disease. There are dozens of online support groups, and joining one is highly recommended. It can be very helpful to making one know they are not alone in their fight.
If it’s financial support you are looking for, the best place to start is right here at QuickRx. Our copay assistance programs and the dedication of our team is unmatched. We guarantee that we will find every discount and dollar possible to obtain for anyone who comes to us.