Symptoma

Huntington Disease-Like 2

HDL2

The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations. (c) 2007 Movement Disorder Society. [ncbi.nlm.nih.gov]

Clinical Presentation of HDL2 In the context of the clinical presentation of HD and HDL2, the two diseases cannot be distinguished. However, HDL2 patients tend to have more pronounced parkinsonism symptoms than in HD. [web.stanford.edu]

  • Abdominal Obesity

    Obese Patients Completed NCT00239967 Phase 3 Rimonabant (SR141716);Placebo 7 A Study to Investigate the Effect of Rosuvastatin (CRESTOR ) on High Density Lipoprotein Kinetics in Patients With the Metabolic Syndrome Completed NCT00240305 Phase 3 Rosuvastatin [malacards.org]

  • Eye Movements Abnormal

    Proposed specific differences include an exclusive African ancestry, lack of eye movement abnormalities, increased Parkinsonism, and acanthocytes in HDL2. [ncbi.nlm.nih.gov]

    Unlike Juvenile onset HD, seizures and eye movement abnormalities are usually not described. Some cases may follow a pattern of symptom onset more like classic Huntington Disease. [hopkinsmedicine.org]

    Symptoms include chorea, dystonia, Parkinsonian symptoms, seizures, subcortical dementia, peripheral neuropathy, tics and eye movement abnormalities. A possible psychiatric symptom is self-mutilation. [hdlf.org]

    Eye movement abnormalities A detailed examination of ocular movements can be very informative. [jnnp.bmj.com]

  • Irritability

    Irritability: For severe anger and threatening behavior, experts agree that an atypical antipsychotic drug is the preferred approach. [alz.org]

    Irritability and aggression Some people with Huntington's disease become easily irritated or angered. This can be partly caused by an inability to see things from another person’s point of view. [betterhealth.vic.gov.au]

    Some common early symptoms: Slight changes in coordination, affecting balance or making you more clumsy Fidgety movements that you can't control Slowing or stiffness Trouble thinking through problems Depression or irritability Middle stage. [webmd.com]

    Patients have prominent psychiatric symptoms, including becoming irritable and impulsive and sometimes aggressive. "There are very high rates of depression and anxiety," Boyd said. [burlingtonfreepress.com]

    As the disease progresses, the patient may show changes in behaviour and personality, including depression, irritability and anxiety. [lundbeck.com]

  • Hyperreflexia

    In this HDL2 type, chorea may be more prominent, while dystonia, bradykinesia, tremors, hyperreflexia, and dysarthria are less prominent (Margolis, 2009). [web.stanford.edu]

    […] symptoms Cognitive speed impaired first (executive function) Mood disorders Suicidal ideation Dementia Relentless progression of disease with death 15-20 years after onset Successive generations tend to have earlier onset Juvenile onset symptoms Clumsiness Hyperreflexia [arupconsult.com]

    Other clinical features such as bradykinesia/parkinsonism, hyperreflexia, dysarthria, frontal lobe syndrome, and dementia may be variably present. Cognitive deficits and psychiatric features appear to be less prominent compared to HD. [movementdisorders.org]

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]

Workup of the patient with chorea (2) • MRI brain gadoliniumMRI brain gadolinium • CSF protein, glucose (lactate/pyruvate), 14-3-3, cells,CSF protein, glucose (lactate/pyruvate), 14-3-3, cells, infectious markers, paraneoplastic absinfectious markers, [slideshare.net]

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]

  • Acanthocytes

    Acanthocytes were detected in 4 of the 13 patients tested. Nineteen out of 20 MRIs were reported as abnormal with findings similar to HD. [ncbi.nlm.nih.gov]

    Researchers have concluded that the presence of acanthocytes in two unrelated pedigrees is unlikely coincidental. [web.stanford.edu]

    If there is a clear history of AD chorea in family of African ancestry and no other suggestive features, consider HDL2. one helpful feature in a small proportion is the presence of acanthocytes. 1. [slideshare.net]

    However, the determination of an increased acanthocyte percentage in peripheral blood may not be sensitive enough with routine traditional methods, and may require phase contrast microscopy. [jnnp.bmj.com]

  • Gliosis

    Gross and microscopic examination revealed prominent striatal neuron loss and astrocytic gliosis in a dorsal to ventral gradient in each disorder and cortical atrophy. [ncbi.nlm.nih.gov]

    Neuroradiologically, findings include progressive striatal atrophy with a maximum in the caudate head. [65] Postmortem examinations have shown a neuronal loss and gliosis predominantly affecting the caudate nucleus, putamen, globus pallidus, thalamus, [movementdisorders.org]

Each disease is ultimately fatal with no effective treatment to stop or slow the relentless progression. HD affects about 30,000 Americans, with a much higher number at risk;HDL2 is rare. [grantome.com]

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 Prevention Like HD, there is currently no known treatment that stops or slows the progression of HDL2. [web.stanford.edu]

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]

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]

Prognosis The person with Huntington disease may be able to maintain a job for several years after diagnosis, despite the increase in disability. [medical-dictionary.thefreedictionary.com]

This book describes in detail the latest clinical and etiological information regarding chorea. Management strategies, pathophysiology, and associated medical and psychiatric problems associated with chorea are also addressed. [books.google.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]

Treatment of chorea usually entails addressing its root etiology. The most common symptomatic treatment of chorea include the use of neuroleptic agents, other dopamine depleters such as tetrabenazine, and sometimes benzodiazepines. [movementdisorders.org]

(HD, HDL2,due to neurodegenerative etiology (HD, HDL2, chorea-acanthocytosis, McLeod)chorea-acanthocytosis, McLeod) 31. [slideshare.net]

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]

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]

[…] 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]

In collaboration with UCT and Prof Jacquie Greenberg, she is continuing her research on HD with a focus on disease epidemiology and HD-like disorders (or phenocopies ). [humangenetics.uct.ac.za]

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]

These studies will lead to a better understanding of HD and HDL2 pathophysiology, and may reveal novel molecular targets and pathways for therapeutic development. [grantome.com]

Management strategies, pathophysiology, and associated medical and psychiatric problems associated with chorea are also addressed. [books.google.com]

Its pathophysiology involves a functional dysregulation of the basal ganglia motor circuit, where the final thalamo-cortical output is increased, resulting in increased movement and chorea. [movementdisorders.org]

Novel drug to arrest antibiotic resistance by preventing micro-evolution Desperate times need desperate measures. [news-medical.net]

We conducted a randomized trial of this diet pattern for the primary prevention of cardiovascular events. [nejm.org]

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]

[…] diet can prevent weight loss and may have a positive impact on other symptoms. [yourgenome.org]

These types of diseases occur when errors in RNA sequences prevent the production of key proteins. However, with RNA-targeting Cas9, researchers were able to get rid of the RNA errors, particularly those linked to ALS and Huntington’s. [digitaltrends.com]