Presentation
Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia [orpha.net]
This condition accounts for about 0.7% of all HD-like presentations. [jnnp.bmj.com]
During the ‘presymptomatic’ period, no signs or symptoms are present. In ‘prodromal’ Huntington disease, subtle signs and symptoms are present. [es.slideshare.net]
Patients may present with one or all disorders in varying degrees. [physio-pedia.com]
Symptoms can vary but the disease can present like HD. The average age of onset is between 20 and 30 but it can occur in childhood. [hdlf.org]
Entire Body System
- Weakness
Physical changes The person may experience: difficulty speaking, including looking for words and slurring weight loss, leading to weakness difficulty eating and swallowing, as the muscles in the mouth and diaphragm may not work properly risk of choking [medicalnewstoday.com]
Muscle weakness, lip and tongue biting and seizures are generally not part of the typical HDL2 clinical presentation (Margolis and Rudnicki, 2008). [web.stanford.edu]
Although several studies other than the Health Professionals Study have also demonstrated a link between tomatoes or lycopene and prostate cancer, others have not or have found only a weak connection. [14] Taken as a whole, however, these studies suggest [hsph.harvard.edu]
HD patients become very weak and as their immune systems suffer, which results in many people eventually developing illnesses like pneumonia or heart complications. [draxe.com]
- Difficulty Walking
People with Huntington’s may have difficulty walking, talking and controlling movements. They may also have difficulty learning new information and suffer from depression or anxiety. [medstargeorgetown.org]
[…] such as pneumonia Incontinence and other urinary tract problems (e.g., infections) Falls and difficulty walking requiring the use of assist devices such as wheelchairs Children with juvenile-onset HD have rigidity, slow movements, and tremors that are [labtestsonline.org]
Musculoskeletal
- Osteoporosis
Adults, however, may experience additional health challenges including CF-related diabetes and osteoporosis. CF also can cause reproductive problems - more than 95 percent of men with CF are sterile. [who.int]
Psychiatrical
- Fidgeting
Initially, mild chorea may cause the patient to appear restless, as if they are fidgeting. [physio-pedia.com]
Neurologic
- Involuntary Movements
Huntington disease is a hereditary disease that begins with occasional involuntary jerking or spasms, then progresses to more pronounced involuntary movements (chorea and athetosis), mental deterioration, and death. [merckmanuals.com]
As HD progress, people display the disease's classic writhing movements; in Alzheimer’s, a person’s ability to move usually becomes gradually more difficult, but they don’t usually experience many involuntary movements. [verywell.com]
Movement disorders The movement disorders associated with Huntington's disease can include both involuntary movement problems and impairments in voluntary movements, such as: Involuntary jerking or writhing movements (chorea) Muscle problems, such as [mayoclinic.org]
Defective huntingtin protein leads to brain changes that cause abnormal involuntary movements, a severe decline in thinking and reasoning skills, and irritability, depression and other mood changes. [alz.org]
- Hyperactivity
In one large study, 70% of JHD subjects presented with behavioral symptoms; during the course of disease, 93% of males and 81% of females experienced psychiatric issues.58 These symptoms are made up almost exclusively of externalizing behaviors of hyperactivity [tandfonline.com]
Also, when the onset of DRPLA occurs before the age of 20, we can detect psychotic symptoms, hyperactivity/impulsivity, restlessness, aggressive behaviours, autism-like features, and developmental delay or regression. 18 The cognitive–behavioural profile [jnnp.bmj.com]
- Abnormal Involuntary Movement
Defective huntingtin protein leads to brain changes that cause abnormal involuntary movements, a severe decline in thinking and reasoning skills, and irritability, depression and other mood changes. [alz.org]
At first, people can blend these abnormal involuntary movements into purposeful ones so that the abnormal movements are barely noticeable. However, with time, the movements become more obvious. [merckmanuals.com]
Workup
DNA testing is used to diagnose HD; workup of the disease in asymptomatic individuals should also involve neurological and psychological examination in addition to genetic counseling. [arupconsult.com]
However, traditional one-by-one genetic testing facilitating the diagnostic workup is increasingly replaced by simultaneous gene testing using next-generation multiple gene panels and whole exome/genome sequencing. [movementdisorders.org]
In addition there are disorders mimicking HD, the so-called HD-like syndromes, and molecular workup revealed that they account for about 1 % of suspected HD cases. [link.springer.com]
Treatment
TABLE 11 France, Sales by Treatment (2017 - 2023) TABLE 12 Italy, Sales by Treatment (2017 - 2023) TABLE 13 Spain, Sales by Treatment (2017 - 2023) TABLE 14 Japan, Sales by Treatment (2017 - 2023) TABLE 15 Patent Expiry Analysis TABLE 16 U.S. [gii.co.jp]
Possible future treatments Various new treatments for HD are being studied. They include gene therapy treatments and various treatments with medicines. For example, trials looking at the effect of a new medicine called pridopidine are underway. [patient.info]
Treatment and outcomes There is currently no cure for Huntington's disease and no way to slow or stop the brain changes it causes. Treatments focus on managing symptoms. [alz.org]
Treatment and support There's currently no cure for Huntington's disease or any way to stop it getting worse. [nhs.uk]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
Diagnosis/ prognosis: There is no treatment or cure for Huntington’s Disease, and the patient eventually becomes completely dependent on others for daily functioning. [who.int]
Prognosis of Huntington’s Disease The prognosis of HD is poor at this time. The average life expectancy following diagnosis ranges from 10 to 20 years. [verywell.com]
Treatment and prognosis No treatment is currently generally available 4. [radiopaedia.org]
Prognosis Prognosis has historically been somewhat bleak for people with HD. Complications related to movement abnormalities and immobility, such as pneumonia and respiratory complications, are a common cause of death in HD. [encyclopedia.com]
What is the outlook (prognosis) with Huntington's disease (HD)? HD is a condition that slowly progresses so that you gradually develop more, and worsening, symptoms. [patient.info]
Etiology
Another major theme in the research on etiology of HD is the disturbance of cell metabolism. [tandfonline.com]
[…] phenotypes and supports the need for clinicians to initiate genetic counseling in patients who show clinical signs of HD to further evaluate nonpathologic etiologies due to phenocopies. [neurologyadvisor.com]
[…] disease gene test Susanne A Schneider, Ruth H Walker and Kailash P Bhatia Huntington's disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology [hdlf.org]
Abstract Huntington's disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. [nature.com]
Epidemiology
Vasconcellos, Mariana Spitz, Vitor Tumas First published April 17, 2017, Abstract Objective: This study aims to report a series of six patients with genetic diagnosis of Huntington disease-like type 2 (HDL2) and to describe the clinical manifestations and epidemiological [neurology.org]
[…] dyskinesias Parkinson disease Amyotrophic lateral sclerosis Wilson disease Drug induced (phenytoin, L-dopa, cocaine, oral contraceptives) HIV /AIDS Paraneoplastic syndrome Thyrotoxicosis Dentatorubral-pallidoluysian atrophy Neuroferritinopathy Background Epidemiology [arupconsult.com]
The molecular epidemiology of cystic fibrosis ** pdf, 89kb Diagnosis/ prognosis: People with CF have a variety of symptoms including: very salty-tasting skin; persistent coughing, at times with phlegm; wheezing or shortness of breath; an excessive appetite [who.int]
Epidemiology & Association with African Ancestry ^ HDL2 is very rare and thus far has been identified in about 1% of individuals with HDL disorders who tested negative for the HD mutation. [web.stanford.edu]
Market Formulation & Validation Chapter 2 Executive Summary Chapter 3 Disease Primer and Epidemiology 3.1 Disease Primer 3.1.1 Molecular Biology and Genetics of Huntington Disease (HD) 3.1.2 Signs and Symptoms 3.1.3 Biomarkers 3.1.4 Current Prevalence [gii.co.jp]
Pathophysiology
His main research interest is in movement disorders, specifically the merging of clinical, electrophysiological and imaging methods to provide insights into the pathophysiology of conditions like dystonia and Parkinson's disease. [books.google.com]
Hopefully, with better understanding of their pathophysiology we are moving towards mechanistic therapies. [journals.lww.com]
The symptoms of HD may be motor, cognitive, and psychiatric, and are consistent with the pathophysiology of frontostriatal circuitry malfunction. [tandfonline.com]
Pathophysiology In HD there is an excessive sequence of CAG repeats in part of the HTT ("Huntingtin") gene, which is located on the short arm of chromosome 4 [3]. [physio-pedia.com]
Prevention
Novel drug to arrest antibiotic resistance by preventing micro-evolution Desperate times need desperate measures. [news-medical.net]
This can calm symptoms of an irritable bowel and, by triggering regular bowel movements, can relieve or prevent constipation. [18] The bulking and softening action of insoluble fiber also decreases pressure inside the intestinal tract and may help prevent [hsph.harvard.edu]
Prevention of Huntington's disease Because Huntington's is a genetic disease, you can't do anything to prevent it if you have inherited it. [stanfordhealthcare.org]
[…] diet can prevent weight loss and may have a positive impact on other symptoms. [yourgenome.org]
Preventing Huntington’s Disease There currently is no way to prevent HD. However, maintaining an active body and a healthy mind probably helps delay symptoms or slows progression. [verywell.com]