Create issue ticket

98 Possible Causes for Distinction of MPS1 Types: Age at Onset, Progression, Mutation(s), Thickening of the Mitral Valve Leaflets

Did you mean: Distinction of, MPS1, Types:, Age, at Onset, Progression, Mutation(s), Thickening of the Mitral Valve Leaflets

  • Mucopolysaccharidosis 1 H-S

    Although patients with MPS I will experience a progression of symptoms over time, they do not progress from one “type” of MPS I to another.[mps1disease.com] Abstract The complementary and genomic DNA segments of the alpha-L-iduronidase gene from two Chinese mucopolysaccharidosis type I Hurler/Scheie (MPS IH/S) patients were amplified[jmg.bmj.com] PY - 1996/11 Y1 - 1996/11 N2 - In a patient with Hurler-Scheie syndrome, a type of mucopolysaccharidosis (1 H/S), an initial presentation was grouped papules on the extensor[researchers.mq.edu.au] Progressive thickening and stiffening of the valve leaflets can lead to mitral and aortic regurgitation, which may become hemodynamically significant in the later stages of[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    Mucopolysaccharidosis type VI (MPS VI) is a progressive, multisystem autosomal recessive lysosomal disorder resulting from deficient N-acetylgalactosamine-4-sulphatase (ASB[ncbi.nlm.nih.gov] Yamagishi A, Tomatsu S, Fukuda S, et al.: Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.[link.springer.com] BACKGROUND: According to the current literature, the recommended surgical treatment is circumferential spinal fusion, including both anterior and posterior procedures, for progressive[ncbi.nlm.nih.gov] Our study shows that progressive acetabular dysplasia as well as coxa valga and hip displacement are highly prevalent and progressive over time in patients with MPS I-H, despite[journals.lww.com]

  • Mucopolysaccharidosis 1

    Forty-five percent of patients developed progression of greater than 10 . Patients with an initial deformity greater than 45 seemed to be more likely to progress.[ncbi.nlm.nih.gov] Glaucoma in mucopolysaccharidosis 1-H/S. J Pediatr Ophthalmol Strabismus 1996; 33 (2): 127–131. 7 Cantor LB, Disseler JA, Wilson FM.[nature.com] Progressive thickening and stiffening of the valve leaflets can lead to mitral and aortic regurgitation, which may become hemodynamically significant in the later stages of[ncbi.nlm.nih.gov] Gene sequencing can follow biochemical diagnosis in order to identify the mutation(s) present.[rheumatology.oxfordjournals.org]

  • Mucopolysaccharidosis 4

    These materials remain stored in the body’s cells, causing progressive damage.[mpssociety.org] Glaucoma in mucopolysaccharidosis 1-H/S. J Pediatr Ophthalmol Strabismus 1996; 33 (2): 127–131. 7 Cantor LB, Disseler JA, Wilson FM.[nature.com] […] minimal to mild thickened mitral and/or aortic valve leaflets.[journals.plos.org] PubMed Google Scholar Fukuda S, Tomatsu S, Masue M, et al (1992) Mucopolysaccharidosis type IVA: N -acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical[link.springer.com]

  • Mitral Valve Prolapse

    Relatively little information is available regarding the progression of mild to severe MR in patients with MVP.[ncbi.nlm.nih.gov] Pagina 137 - Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.[books.google.it] Two groups of patients were compared: those with thickening of the mitral-valve leaflets and redundancy (designated the classic form; n 319) and those without leaflet thickening[oadoi.org] People who developed progressive prolapse and thickening of the valve had the highest rates of progression to more severe regurgitation.[everydayhealth.com]

    Missing: Distinction of MPS1 Types: Age at Onset
  • Mucopolysaccharidosis 1S

    Our study shows that progressive acetabular dysplasia as well as coxa valga and hip displacement are highly prevalent and progressive over time in patients with MPS I-H, despite[journals.lww.com] Hurler-Scheie syndrome Hurler syndrome IDUA deficiency MPS I MPS I H MPS I H-S MPS I S mucopolysaccharidosis I Scheie syndrome Campos D, Monaga M.[ghr.nlm.nih.gov] Mullaney P, Awad AH, Millar L (1996) Glaucoma in mucopolysaccharidosis 1-H/S. J PediatrOphthalmol Strabismus 33: 127-131.[omicsonline.org] Progressive thickening and stiffening of the valve leaflets can lead to mitral and aortic regurgitation, which may become hemodynamically significant in the later stages of[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 4A

    Symptom onset generally occurs early in life, and the disease follows a progressive course.[symptoma.com] (PMID: 9375852) Tomatsu S … Orii T (Human mutation 1997) 3 4 22 60[genecards.org] Sequencing (complete) EDTA blood / DNA 1. 1-2weeks 2. 2-3weeks Metachromatic Leukodystrophy (ARSA) * Sequencing (complete) EDTA blood / DNA 2-3 weeks Mucopolysaccharidosis[diagenom.de] Valvular involvement, with thickening and stiffening of the valve leaflets, commonly leads to mitral and aortic regurgitation and/or stenosis [ 24 ].[link.springer.com]

  • Parkinson's Disease

    This study assessed the effect of levodopa on the rate of progression of Parkinson's disease.[ncbi.nlm.nih.gov] VPS35 mutations in Parkinson disease.[ncbi.nlm.nih.gov] leaflets and in the mitral subvalvular apparatus, causing thickening, retraction, and stiffening of valves and resulting in incomplete leaflet coaptation and valve regurgitation[content.nejm.org] Slower progression of Parkinson's disease with ropinirole versus levodopa: the REAL-PET study.[doi.org]

    Missing: Distinction of MPS1 Types: Age at Onset
  • Kearns-Sayre Syndrome

    Although we could not demonstrate that the amounts of wild-type mitochondrial DNA decreased with accelerating progression, it was emphasized that such a reduction of mitochondrial[ncbi.nlm.nih.gov] An affected mother may pass the mutation(s) on to all her children but only her daughters will pass the mutation(s) on to their children.[rarediseases.org] Echocardiography showed prolapse with thickening and degeneration of both mitral valve leaflets but without mitral regurgitation.[ncbi.nlm.nih.gov] The Kearns-Sayre syndrome is a rare condition characterized by external ophthalmoplegia, retinal pigmentary degeneration and progressive impairment of cardiac conduction.[ncbi.nlm.nih.gov]

    Missing: Distinction of MPS1 Types: Age at Onset
  • Fabry Disease

    Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression[ncbi.nlm.nih.gov] Hum Mutat. 1994; 3 (2):103–111. [ PubMed ] [ Google Scholar ] Kawanishi C, Osaka H, Inoue K, Onishi H, Yamada Y, Sugiyama N, Suzuki K, Hanihara T, Miyagawa T, Kimura S, et[ncbi.nlm.nih.gov] […] without significant luminal occlusion. c Section through the mitral valve apparatus demonstrating mild mitral valve leaflet thickening and ballooning of the anterior and[doi.org] Progression of chronic kidney disease The rate of eGFR decline (progression) was stratified by gender and ultimate progression to ESRD (Figure 1 ).[ncbi.nlm.nih.gov]

    Missing: Distinction of MPS1 Types: Age at Onset