Huntington's Disease

Huntington's Disease: Empower the HD Community with DiseaseLandscape Insights

Huntington's disease (HD), a fatal neurological ailment, has an impact not only on the lives of individuals but also the entire family and casts darkness over their existence. DiseaseLandscape Insights is making a proactive move in an effort to increase awareness and foster research developments. We are dedicated to bringing awareness to this difficult ailment and working with the international community to find appropriate treatments and, ultimately, a cure.  

HD is a rare condition that affects ~30,000 Americans. According to Cleveland Clinic, the frequency of HD was 5.7 per 100,000 people in North America. Even less frequently occurring is Juvenile Huntington's disease, which affects 5% to 10% of youngsters. HD is a hereditary neurological disorder that develops when harmful proteins build up in various regions of the brain as a result of a gene mutation. Symptoms of HD, also known as Huntington's chorea, affect a person's ability to move, behave, and think. Less than 5,000 Americans are estimated to have HD, according to the Genetic and Rare Diseases Information Center (GARD).

Two subtypes of Huntington's disease are in existence:

Adult-Onset Huntington’s Disease - The most typical kind of Huntington's disease is this particular type. Symptoms of adult-onset Huntington's disease typically appear in people between the ages of 40 and 50.

Juvenile Huntington’s Disease - Huntington's disease in children. This extremely uncommon variant of Huntington's disease affects kids and teenagers. Parkinsonian symptoms are frequently present in children with Huntington's disease.

Virtually every case of Huntington's disease is caused by the faulty gene discovered in 1993. The smallest region of chromosome 4 contains excess copies of one particular chemical code, which is the cause of the huntingtin gene deficiency. Among its more than 3,100 codes, the typical huntingtin gene repeats this code 17 to 20 times. There are 40 or more repeats in the abnormality that causes Huntington's disease. The number of repeats found in a person's huntingtin protein gene is counted during genetic tests for Huntington's disease. Researchers are still learning how the huntingtin protein works normally and how the terrible signs of Huntington's disease are brought on by a few dozen extra repeats in the protein's genetic code. To learn the cause of Huntington's, researchers are keen to unravel these puzzles. These answers also provide crucial information about a variety of other brain conditions, such as ALS, Parkinson's disease, and Alzheimer's disease.

Huntington Disease Stages –

• Early Stage - People with early HD stay largely functional and are generally able to drive, work, manage their finances, and live independently. Minor involuntary movements, a modest loss of coordination, trouble solving complicated issues, and possibly some depression, anger, or disinhibition are possible symptoms.
• Middle Stage - In the middle stage of HD, people no longer work or drive and might be unable to manage their finances or take care of home tasks on their own, but they are able to eat, dress, and take care of their personal hygiene with assistance. Chorea may be noticeable, and persons with HD find it harder and harder to do voluntary motor tasks. Swallowing issues, balance issues, stumbles, and weight loss could all occur. People struggle to sequence, organize, or prioritize information, which makes problem-solving more challenging.
• Late Stage - People with late-stage HD need assistance with all everyday tasks. It is significant to highlight that individuals with HD appear to retain some knowledge, despite the fact that they are frequently bedridden and nonverbal in the latter stages. Chorea is severe, but more frequently rigidity, dystonia, and bradykinesia take its place. Psychiatric symptoms manifest at any time over the course of the disease, but because of communication issues, they are more challenging to identify and treat as the disease progresses.

The deadly nature of Huntington's disease, which is marked by increasing neurodegeneration and a lack of therapeutic options, makes early detection or treatment of the condition essential. Early diagnosis allows for prompt interventions and individualized care, thereby enhancing the quality of life for patients. For pharmaceutical firms and healthcare providers, this unmet medical need has opened up a sizable market. As the need for solutions to lessen the pain of affected people and their families is growing, creating efficient therapies and diagnostic tools not only tackles a critical health issue but also offers a potentially lucrative market.

Diagnostic Analysis –

Early detection of Huntington's disease is important for planning future care and needs, as well as for providing the right medical and psychological assistance. Additionally, ongoing HD research is improving diagnostic techniques and could eventually result in more sensitive and precise technologies.

Huntington's disease (HD) is diagnosed using a mix of clinical evaluation, genetic testing, and occasionally neuroimaging. Genetic testing is the only reliable technique to confirm the existence of HD because it is a hereditary ailment brought on by a mutation in the HTT gene. A blood sample is used for a genetic test to identify Huntington's disease (HD). A complete health history is required for further neurological and laboratory testing, and these tests are typically administered simultaneously. Testing is done on people who are at risk of having the HD gene before any symptoms show up.

• Diagnostic Imaging - The doctor occasionally advises brain imaging, such as Computed Tomography (CT) or, more frequently, Magnetic Resonance Imaging (MRI), particularly if a patient's family history and genetic testing are unconvincing. These scans often show the brain shrinking in certain areas as the disease advances and the ventricles, the brain's fluid-filled chambers, grow larger. These alterations occur in other conditions as well; thus, HD is not always associated with them. A structural CT or MRI scan reveals early HD symptoms in a person while still showing normal results.

• Genetic Testing - Genetic testing allows one to estimate a person's likelihood of contracting or passing on a genetic disorder as well as confirm or rule out any suspected genetic conditions. A higher level of certainty is potentially gained when predicting someone's likelihood of developing HD.

Treatment Analysis –

Huntington's disease currently has no known treatments that change its progression. However, some symptoms of psychological and movement disorders are reduced by medication.

Medication: Medication is prescribed to treat a variety of symptoms, including psychiatric symptoms, mood disorders, and movement problems. These could consist of mood stabilizers, antipsychotic medications, and chorea (involuntary movement) medication.

There are many leading companies in the healthcare industry manufacturing the above-mentioned medications and changing Huntington's narrative –

Latest Updates on Huntington's Disease –

NINDS-funded researchers are examining, for example, how the huntingtin protein influences cell signaling and how its altered structure contributes to the disease in an effort to better understand the cellular and molecular mechanisms underlying HD. The following gives a summary of this study:

• The Huntington gene is being studied in a new way to see whether it impacts the brain's capacity to preserve healthy, undamaged DNA in general and whether additional alterations to the gene occur during development and adulthood. This research holds promise for discovering novel HD progression and onset modifiers that might make good therapeutic targets.
• Chronic overexcitation (overactivation of neurons to turn on) results from excessive chemical transmission between brain cells. This overactivation is harmful to neurons. Several labs are looking into the possibility of treating HD with medications that reduce excitotoxicity.
• Modern techniques like Optogenetics, which involve utilizing light beams to stimulate or mute neurons in the brains of living animals, are being utilized to investigate the origin and evolution of cell circuit abnormalities in HD.

Biomarkers –

A number of international research, including the NINDS-funded PREDICT-HD trial, are looking for and validating HD biomarkers. Biomarkers are biological alterations that are used to forecast, identify, or track the progression of a disease. One objective of PREDICT-HD is to ascertain if the development of the illness correlates with modifications in brain scan pictures or with alterations in the chemical composition of blood, urine, or cerebrospinal fluid. Finding quantitative alterations in personality, temperament, and cognition that frequently show before HD's motor symptoms is another objective. Currently, PredictHD is in its third phase.

Imaging –

Imaging technology is being used by researchers to examine how HD affects the chemical systems of the brain, identify dead neurons, observe changes in the volume and structural makeup of the brain in HD patients, and comprehend how HD impacts the functionality of various brain regions.

Clinical Trial Assessment –

DiseaseLandscape Insights services help in planning and improving clinical trial outcomes, enhancing the regulatory approval process, and increasing the quality of life.

The below mentioned are the official study titles of ongoing clinical trials and the phases in which they are conducted –

Conclusion –

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