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Huntington Disease-Like 1

HDL1


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]
  • HDL disorders are rare and account for about 1% of cases presenting with a Huntington's disease phenotype.[journals.lww.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]
Movement Disorder
  • Together with Professor Stanley Fahn, of the Neurological Institute in New York, he founded the Movement Disorder Society and its scientific journal Movement Disorders. He died in 1998.[books.google.com]
  • Homepage Rare diseases Search Search for a rare disease Huntington disease-like 1 Disease definition A rare, genetic, human prion disease characterized by adult-onset neurodegenertaive manifestations associated with a movement disorder and psychiatric[orpha.net]
  • […] doi: 10.1097/WCO.0b013e3283632d90 MOVEMENT DISORDERS: Edited by Kailash Bhatia Abstract Author Information Authors Article Metrics Metrics The differential diagnosis of chorea syndromes may be complex and includes various genetic disorders such as Huntington's[journals.lww.com]
  • ) is the most common movement disorder seen in HD.[physio-pedia.com]
  • Eight of those had family histories consistent with HD, including a combination of movement disorders and psychological symptoms.[neurologyadvisor.com]
Anxiety Disorder
  • Patients with Huntington’s disease suffer from psychological issues such as anxiety disorders, memory disturbances and depression.[brainblogger.com]
Ataxia
  • 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]
  • En estos casos la ataxia se inició tardiamente.[es.slideshare.net]
  • The commonest is spinocerebellar ataxia type 17 (SCA-17), occasionally called HDL-4.[en.wikipedia.org]
  • Lasek K et al . (2006) Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17) . Brain 129 : 2341–2352 39. Manganelli F et al . (2006) Electrophysiologic characterization in spinocerebellar ataxia 17 .[nature.com]
  • ataxia and hypogonadotropic hypogonadism).[movementdisorders.org]
Dystonia
  • 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]
  • Symptoms include chorea, dystonia, Parkinsonian symptoms, seizures, psychiatric peripheral neuropathy.[hdlf.org]
  • They're all characterized by variable presentation of chorea, dystonia, and parkinsonism, cognitive impairment, and psychiatric disturbance. 0:31 The CAG repeat diseases comprise Huntington's disease, DRPLA, SBMA, and SCA1, 2, 3, 6, 7 and 17.[hstalks.com]
  • Other movement disorders, such as myoclonus, dystonia, motor and vocal tics, tremor, and ataxia, may be associated.[movementdisorders.org]
  • […] paternal transmission (genetic anticipation) – results in earlier onset in offspring of an affected male Clinical Presentation Progressive neurodegenerative disorder Motor symptoms Tremor Chorea/choreoathetosis Slow ocular saccades Akinesia, bradykinesia Dystonia[arupconsult.com]
Personality Change
  • 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]
  • Huntington disease, an autosomal dominant disorder, is a progressive, neurodegenerative disease characterized by insidious onset of incoordination, personality changes, and psychiatric symptoms leading to severe dementia and immobility.[patientslikeme.com]
  • Symptoms of Huntington's disease can include: difficulty concentrating and memory lapses depression stumbling and clumsiness involuntary jerking or fidgety movements of the limbs and body mood swings and personality changes problems swallowing, speaking[nhs.uk]
  • changes Disorientation and confusion Hallucinations, paranoia, and psychosis In children, the symptoms often include Parkinson's disease-like features such as: Slow movements Rigidity Tremors Types of Huntington's disease Huntington’s disease has two[stanfordhealthcare.org]
  • ., slow, slurred speech; difficulty in finding words; disorganized speech and sentence construction) Behavioral/personality changes Change in personal hygiene and habits Unusually anxious behaviour Irritability and aggression Depression, particularly[labtestsonline.org]
Dysarthria
  • 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]
  • In this HDL2 type, chorea may be more prominent, while dystonia, bradykinesia, tremors, hyperreflexia, and dysarthria are less prominent (Margolis, 2009).[web.stanford.edu]
  • Dysarthria and dysphagia are common. Abnormal eye movements may be seen early in the disease. Other movement disorders, such as tics and myoclonus, may be seen in patients with HD.[physio-pedia.com]
  • It may resemble HD with prominent personality change, psychiatric symptoms and cognitive decline, chorea, rigidity, and dysarthria. Limb and truncal ataxia and seizures may be present.[movementdisorders.org]
  • Frequent findings include impaired visual tracking; slow, poorly coordinated, arrhythmic fine motor movements; dysarthria and dysphagia; rigidity; and ataxia ( 6 )( 7 )( 8 ).[clinchem.aaccjnls.org]
Mental Deterioration
  • Huntington’s disease is a rare, progressive, neurodegenerative genetic disorder, in which people may experience behavioral disturbances, mental deterioration and uncontrolled movements.[lundbeck.com]
  • deterioration Seizure disorder Rapid decline ARUP Lab Tests Tests generally appear in the order most useful for common clinical situations.[arupconsult.com]
  • 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]
  • The clinical phenotype was complex, with childhood-onset mental deterioration, speech disturbance, dystonia, chorea, and other extrapyramidal and pyramidal features.[movementdisorders.org]

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

  • 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]
  • 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]
  • 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]
  • Read more about the comprehensive Huntington’s disease treatments we offer.[medstargeorgetown.org]

Prognosis

  • Treatment and prognosis No treatment is currently generally available 4.[radiopaedia.org]
  • Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry. 2012;83:956–62. PubMed Google Scholar 66.[link.springer.com]

Etiology

  • […] 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]
  • Results: The discovery of the genetic etiology of HD, a trinucleotide expansion mutation on chromosome 4p, has led to the development of increasingly reliable and valid diagnostic tests that can be applied to symptomatic patients, individuals at risk[clinchem.aaccjnls.org]
  • Chorea may have numerous causes, including acquired and inherited etiologies.[movementdisorders.org]

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]
  • 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]
  • Harper PS (1992) The epidemiology of Huntington's disease . Hum Genet 89 : 365–376 4. Stevanin G et al . (2002) CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients . Neurology 58 : 965–967 5.[nature.com]
Sex distribution
Age distribution

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]
  • 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]
  • The molecular pathophysiology is not fully understood.[movementdisorders.org]
  • Hopefully with better understanding of their pathophysiology, we will also move towards mechanistic therapies. Keywords Chorea Huntington disease HDL disorders SCA17 Differential diagnosis References 1. Tabrizi SJ, Scahill RI, Durr A, et al.[link.springer.com]

Prevention

  • 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]
  • Medications are available to help manage the symptoms of Huntington's disease, but treatments can't prevent the physical, mental and behavioral decline associated with the condition.[mayoclinic.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]
  • Genetic testing may not be necessary in a patient with a typical clinical picture and a genetically proven family history of HD. [7] Medical Management There is no therapy or medication currently available which will delay the onset of symptoms or prevent[physio-pedia.com]
  • Brain Health Registry promotes healthy brain function through the prevention of brain diseases, brain disorders and brain injuries that affect brain function in adults.[englishrosesuites.com]

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