• A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. (jefferson.edu)
  • Bassen-Kornzweig disease, also called Bassen-Kornzweig Syndrome, is a rare congenital disorder in which the body fails to produce chylomicrons, a low density lipoprotein (LDL) and very low density lipoprotein (VLDL). (wikipedia.org)
  • Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). (nih.gov)
  • Irrespective of genotype, the patients exhibited a progressive neurological disorder usually starting in their teens and characterized by epilepsy, headache, ataxia, neuropathy, myoclonus and late onset ophthalmoplegia. (nih.gov)
  • The aim of this study was to assess cognitive function in patients with spinocerebellar ataxia type 6 (SCA6), an autosomal-dominantly inherited disease leading to a progressive cerebellar syndrome. (indexindex.com)
  • These genetic syndromes should be ruled out with a thorough history, complete physical exam, and appropriate laboratory testing during the evalution of CG. (medscape.com)
  • However, genetic factors, trauma, the sensory system, and impaired basal ganglia function may all play a role in the development of this disease. (intermedicina.com)
  • Symptomatic dystonias may be (a) secondary to drugs or other environmental factors, (b) part of a 'dystonia plus' syndrome or (c) part of several heredodegenerative diseases. (intermedicina.com)
  • Electronic health record documentation of International Statistical Classification of Diseases and Related Health Problems, Tenth Revision diagnostic codes corresponding to cardiometabolic disorders. (bvsalud.org)
  • He was also widely known as the co-discoverer and namer of Bassen-Kornzweig Syndrome, also called Abetalipoproteinemia. (wikipedia.org)
  • Bone Fragility in Hereditary Connective Tissue Disorders: A Systematic Review and Meta-Analysis. (harvard.edu)
  • Evidence from previous studies of neuroleptic side effects suggests that acute dystonic reactions are rare in elderly patients. (intermedicina.com)
  • In a diagnostic video session we show the case of a seven year old boy who initially presented with a dystonic disorder. (intermedicina.com)
  • Dystonia is an involuntary movement disorder characterized by twisting, turning, and posturing. (intermedicina.com)
  • Several of the paroxysmal movement disorders may manifest with dystonia, but these are usually considered separately, as I have done in this review. (intermedicina.com)
  • However, the association between CG and Sydenham chorea may represent either a primary underlying abnormality that increases susceptibility to chorea or a movement disorder that is the outcome of permanent subclinical damage to the basal ganglia following the initial Sydenham chorea episode. (medscape.com)
  • Symptoms of these syndromes, including chorea, may occur during pregnancy but are etiologically distinct from chorea gravidarum (CG). (medscape.com)
  • Binary logistic regression analysis was used to evaluate the association between the studied variables and the severity of symptoms. (bvsalud.org)
  • In neuropediatric clinical practice, disorders of movement include a wide diversity of conditions, amongst which the dystonias are uncommon in our practice, although they have to be considered amongst the possible diagnoses in some cases. (intermedicina.com)
  • Some clinical pictures of genuine torsion disorders may be confused with hysterical conversion disorders, somatizations or Munchausen's syndrome. (intermedicina.com)
  • This retrospective cohort study included the live offspring of all individuals who delivered during the COVID-19 pandemic (April 1, 2020 - December 31, 2021) at 8 hospitals within 2 health systems in Massachusetts. (bvsalud.org)
  • The full study cohort includes 29,510 live born offspring (1,599 exposed and 27,911 unexposed offspring). (bvsalud.org)
  • Genetics and molecular studies have helped to clarify some difficult diagnostic problems and facilitated both diagnosis and treatment. (intermedicina.com)
  • This graph shows the total number of publications written about "Loeys-Dietz Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Loeys-Dietz Syndrome" was a major or minor topic of these publication. (harvard.edu)
  • Treatment includes vitamin E. Characteristics of the syndrome include the presence of acanthocytes (burr-cell malformation of the erythrocytes), and the reduction or even absence of B-lipoproteins. (wikipedia.org)
  • Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes. (harvard.edu)
  • Described are the outcomes of 11 Italian patients with Aicardi-Goutières syndrome. (nih.gov)
  • We studied 26 patients belonging to 20 families with a disorder caused by mutations in the POLG gene. (nih.gov)
  • Cognitive function was studied in 12 patients with genetically confirmed SCA6 (mean duration of disease: 9.2 +/- 11.6 years) and 12 age- and IQ-matched controls using a test battery comprising tests for IQ, attention, verbal and visuospatial memory, as well as executive function. (indexindex.com)
  • This disorder may affect a single body part or may be more generalized, but the pathophysiology remains unclear. (intermedicina.com)
  • Aicardi-Goutières syndrome: neuroradiological findings after nine years of follow-up. (nih.gov)
  • Cystic fibrosis fitness during inpatient treatment (CF-FIT): A pre-post pilot study. (ouhsc.edu)