Symptoma

Huntington Disease-Like 3

HDL3

The present study indicates that lutein is a promising candidate for the management of HD and related conditions. [liebertpub.com]

Five of 10 sibs (three sisters and two brothers) from a first-cousin marriage presented with clinical and radiologic features simulating juvenile Huntington disease. [cags.org.ae]

ORPHA:157946 Synonym(s): HDL3 Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: G10 OMIM: 604802 UMLS: C1858114 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

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]

  • Wheelchair Bound

    By the age of 12 years, he became mute and wheelchair-bound and began to have attacks of tonic movements of the upper limbs with rolling up of both eyes. A year later, Kambouris et al. (2000) presented further data on the same family. [cags.org.ae]

    Immobility Destruction of the basal ganglia with loss of movement control, incoordination and postural disturbances leaves patients with advanced Huntington's disease wheelchair-bound. [livestrong.com]

  • Hypertension

    Hirano T...Taira T 2010 21 Fatty liver is independently associated with alterations in circulating HDL2 and HDL3 subfractions. ( 18000185 ) Kantartzis K...Stefan N 2008 22 Serum lecithin: cholesterol acyltransferase activity, HDL2 and HDL3 composition in hypertensive [malacards.org]

    Journal of human hypertension. 2007 Sep;21(9):717. He FJ, Nowson CA, MacGregor GA. Fruit and vegetable consumption and stroke: meta-analysis of cohort studies. The Lancet. 2006 Jan 28;367(9507):320-6. [hsph.harvard.edu]

  • Thrombosis

    Aßmann Arteriosclerosis, thrombosis, and vascular… 1998 We demonstrate that physiological concentrations of HDL3 inhibit the thrombin-induced platelet fibrinogen binding and aggregation… (More) [semanticscholar.org]

  • Arthritis

    23404243 ) Bulum T...Duvnjak L 2013 14 Validation of a novel homogeneous assay for of HDL3-C measurement. ( 23891742 ) Ashmaig ME...Warnick GR 2013 15 High-density lipoprotein cholesterol subfractions HDL2 and HDL3 are reduced in women with rheumatoid arthritis [malacards.org]

    […] of it sponsored by the U.S. government – and mounting anecdotal accounts from patients and physicians highlight CBD’s potential as a treatment for a wide range of maladies, including (but not limited to): Autoimmune diseases (inflammation, rheumatoid arthritis [projectcbd.org]

    They were often crippled with arthritis and joint deformity by their teens and had to attend special schools for disabled people. [who.int]

  • Incontinence

    When she was nine years she became totally mute and incontinent, walked only with help, and needed assistance in feeding. She had poor facial expressions, but full eye movements. [cags.org.ae]

    Loss of bladder and bowel control leads to urinary and fecal incontinence. [livestrong.com]

    John’s father did the same for Cindy in his home for four years until she became incontinent and unable to walk and eat without assistance. [digitaljournal.com]

    Weight loss, sleep problems, and incontinence are common signs of advanced HD. Juvenile HD occurs when someone develops symptoms in the first two decades of life; this occurs in about 5 – 10% of all HD cases. [encyclopedia.com]

  • Kidney Failure

    He was in the hospital because of kidney failure, so we went to go see him. This was before he moved to his full-time care and wasn’t eating properly. “He didn’t like the food” was his excuse, apparently missing my mom's cooking. (Don’t we all!) [elitedaily.com]

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]

  • Albuminuria

    ( 25230879 ) Rosenblat M...Aviram M 2014 12 α-Tocopherol induces proatherogenic changes to HDL2 & HDL3: an in vitro and ex vivo investigation. ( 23287638 ) Wade L...McEneny J 2013 13 Lower levels of total HDL and HDL3 cholesterol are associated with albuminuria [malacards.org]

  • Dyslipidemia

    Markers, and Other Factors in a Japanese Population. ( 26686740 ) Moriyama K...Takahashi E 2016 8 Statin action enriches HDL3 in polyunsaturated phospholipids and plasmalogens and reduces LDL-derived phospholipid hydroperoxides in atherogenic mixed dyslipidemia [malacards.org]

  • Foam Cell

    Norata GD...Eriksson P 2004 35 Purification and measurement of HDL3-binding proteins in human peripheral blood mononuclear cells. ( 12956441 ) Hidaka H...Katsuyama T 2003 36 Cathepsins F and S block HDL3-induced cholesterol efflux from macrophage foam [malacards.org]

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]

No curative treatment or treatment altering disease progression Supportive treatment can be highly effective reserpine, tetrabenazine, or atypical antipsychotics for involuntary movements SSRIs for depression atypical antipsychotics for psychosis and [medbullets.com]

Prevention, and Complications Condition is inevitably fatal Average prognosis is approximately 20 years from symptom onset Please rate topic. [medbullets.com]

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]

[…] 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]

Some choreic disorders have specific treatable underlying etiologies, such as vitamin B 12 deficiency or drug-induced dyskinesia. [mdedge.com]

[…] syndrome Supergrp Core neuroacanthocytosis syndromes [DS: H00832 ] Description Huntington 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 [genome.jp]

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. [ncbi.nlm.nih.gov]

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]

[…] generations, (anticipation) particularly with paternal transmission HD mutation results in neuronal death, particularly in the caudate nucleus and putamen ( basal ganglia) age of onset and severity of disease is inversely correlated with number of CAG repeats Epidemiology [medbullets.com]

[…] 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]

Typically, 100% penetrance Autosomal dominant, juvenile form is typically paternally inherited; otherwise, equal paternal and maternal inheritance pattern Epidemiology Predominant age: onset typically 30 to 50 years but can occur at any age Predominant [unboundmedicine.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]

Hopefully, with better understanding of their pathophysiology we are moving towards mechanistic therapies. [journals.lww.com]

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]

Pathophysiology of acanthocytosis in domestic animals has not been studied except for abetalipoproteinemia. [n.neurology.org]

Introduction Definition autosomal dominant, incurable neurodegenerative disorder characterized by choreiform movements, cognitive decline, mood dysfunction Pathophysiology autosomal dominant CAG triplet repeat expansion in one allele of the HD (huntingtin [medbullets.com]

Etiology and Pathophysiology Associated with a CAG trinucleotide repeat expansion of the huntingtin gene (HTT) on the short arm of chromosome 4 (4p16.3) causing a toxic gain-of-function mutation The gene encodes the protein huntingtin, which plays a role [unboundmedicine.com]

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

Cleveland Clinic Journal of Medicine 2012 July;79(suppl 2):S30-S34 ABSTRACT The management of choreic disorders presents significant challenges, including identifying the etiology of the disorder, treating and preventing motor symptoms, and managing a [mdedge.com]

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]

By identifying these changes, researchers believe they may have found an effective way to slow or prevent the disease. [genome.gov]