Case presentation We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. [bmcneurol.biomedcentral.com]

KMT2B-related dystonia typically presents in childhood, commonly evolving from a lower-limb dystonia into generalized dystonia with cranio-cervical involvement (5–7). [frontiersin.org]

[…] with multiple mitochondrial dysfunction syndrome and NFU1 mutations. 10.3389/fgene.2014.00412 Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation 10.1016/j.ajhg.2013.11.008 Running apraxia as a presenting [paperbase.net]

The general clinical efficacy is equivalent to titanium rod fusion surgery, presenting an alternative treatment for individuals with mild and moderate lumbar degenerative disease. [pesquisa.bvsalud.org]

The present epigenomic analysis also provides relevant insights on the molecular effects of DYT28-causing KMTB2 variants. [clinicalepigeneticsjournal.biomedcentral.com]

• Movement Disorder

  Introduction Dystonia is a movement disorder characterized by abnormal and uncontrolled hyperkinetic movements as a result of sustained or intermittent muscle contractions (1). [frontiersin.org]

  Dystonia is a movement disorder characterized by involuntary hyperkinetic movements involving sustained or intermittent contractions of agonist and antagonist muscles that frequently lead to abnormal posturing or movements [2]. [bmcneurol.biomedcentral.com]

  Case Report Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia Jun Kyu Mun1,2,*, Ah Reum Kim3,*, Jong Hyeon Ahn1,2, Minkyeong Kim1,2, Jin Whan Cho1,2, Jung-Il Lee4, Kyung Rae Cho4, Jinyoung Youn1,2 Journal of Movement Disorders 2020 [e-jmd.org]

  Expanding the spectrum: Case report and literature review 10.1002/mds.23109 Movement disorders in adult surviving patients with maple syrup urine disease 10.1002/mds.23629 Revisiting the molecular mechanism of neurological manifestations in antiphospholipid [paperbase.net]

  Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. Dev Med Child Neurol. 2012;54:618–23. [PubMed: 22515636] Dostal M, Weber-Schoendorfer C, Sobesky J, Schaefer C. [ncbi.nlm.nih.gov]

• Developmental Delay

  The patient, who is followed up from 9 to 13 years of age, had dysmorphic features, developmental delay, short stature, and microcephaly, in addition to focal dystonia and hemichorea (in the right and left lower extremities). [karger.com]

  Facial dysmorphic features, developmental delay and intellectual disability are frequently observed in KMT2B-related dystonia patients as non-dystonic abnormalities (8, 17). [frontiersin.org]

  In the presence of an abnormal neurologic exam or history of developmental delays, clinicians should strongly consider genetic testing. [bmcneurol.biomedcentral.com]

  Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. [e-jmd.org]

  delay caused by bi-allelic GAD1 variants 10.1093/brain/awaa178 Exploring the Impact of PARK2 Mutations on the Total and Mitochondrial Proteome of Human Skin Fibroblasts 10.3389/fcell.2020.00423 Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical [paperbase.net]

• Developmental Disorder

  Mov Disord. 2019 Oct;34(10):1516-1527. doi: 10.1002/mds.27771. Epub 2019 Jun 19. Mov Disord. 2019. PMID: 31216378 KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. [pubmed.ncbi.nlm.nih.gov]

  UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR [ncbi.nlm.nih.gov]

  Histone lysine Methylases and Demethylases in the landscape of human developmental disorders. Am J Hum Genet. 2018;102(1):175–87. Article CAS Google Scholar Dai L, Ding C, Fang F. [bmcneurol.biomedcentral.com]

  /Epileptic Encephalopathies with Movement Disorders: A Systematic Review 10.3390/ijms22084202 [paperbase.net]

• Short Stature

  The patient, who is followed up from 9 to 13 years of age, had dysmorphic features, developmental delay, short stature, and microcephaly, in addition to focal dystonia and hemichorea (in the right and left lower extremities). [karger.com]

  Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. [e-jmd.org]

  Our patient showed development delay including short stature, low body weight and microcephaly as well as poor development of speech and language. There were no facial dysmorphic features. [frontiersin.org]

  Maternal grandfather I-1 had mild short stature and was aesthenic. Maternal uncle, age 41(II-3), recently lost use of his left arm; he has not had testing for the familial variant. [bmcneurol.biomedcentral.com]

• Turkish

  Abstract In this study, we report the first known Turkish case of a novel nonsense mutation c.2453dupT (p.M818fs*28) in the KMT2B (NM_014727.2) gene diagnosed in a male patient with KMT2B-related dystonia (DYT-KMT2B, DYT-28, Dystonia*-28), which is a [karger.com]

  […] onset movement disorders 10.1002/ana.25204 All in the blink of an eye: New insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia 10.1111/ene.12521 A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish [paperbase.net]

• Failure to Thrive

  Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation. [bmcneurol.biomedcentral.com]

• Restless Legs Syndrome

  […] epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly 10.1016/j.seizure.2019.05.015 Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” (Brain and Development [paperbase.net]

  Pregnancy outcome following use of levodopa, pramipexole, ropinirole, and rotigotine for restless legs syndrome during pregnancy: a case series. Eur J Neurol. 2013;20:1241–6. [PubMed: 23083216] Gorman KM, Meyer E, Kurian MA. [ncbi.nlm.nih.gov]

• Psychiatric Symptoms

  Developmental delay, microcephaly, short stature, intellectual disability, psychiatric symptoms, skin lesions, and other systemic symptoms are associated with KMT2B variants. [e-jmd.org]

• Dystonia

  KMT2B-related dystonia is a progressive childhood-onset disorder, commonly evolving from a focal, mainly lower-limb dystonia into generalized dystonia with cranio-cervical involvement. [frontiersin.org]

  […] complex, childhood-onset, progressive, hereditary dystonia. [karger.com]

  The natural course of KMT2B dystonia involves focal onset lower limb dystonia with progression to generalization. [bmcneurol.biomedcentral.com]

  KMT2B rare missense variants in generalized dystonia. Mov Disord. 2017a;32:1087–91. [ncbi.nlm.nih.gov]

  The patient shows cervical dystonia on the right side and bilateral arm dystonia and truncal dystonia on the left side. Supplementary Video Legends Video 2. [e-jmd.org]

• Myoclonus

  […] in patients with DYT11 myoclonus-dystonia syndrome 10.1002/mds.22256 PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum 10.1002/humu.20719 Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and [paperbase.net]

  Generalized dystonia involving bulbar and cervical muscles, in addition to dystonic cramps, myoclonus, and hemiballismus, were also observed during the course of the follow-up. [karger.com]

  Physical examination revealed intermittent myoclonus in both legs but no spasticity or other neurological symptoms. The patient showed developmental delay, a short stature (percentile: <3) and low body weight (percentile: <3). [frontiersin.org]

  Parkinsonism, ataxia, and myoclonus were not combined with dystonia. Although she could walk independently, both the arms, trunk, and neck were in dystonic posture. Regarding cognition, she was formally diagnosed with mild intellectual disability. [e-jmd.org]

  […] disability, and developmental delay [5, 6]., Additional reported features not present include eye movement abnormalities, skin changes, psychiatric co-morbidities (anxiety, depression, attention deficit hyperactivity disorder, obsessive-compulsive disorder), myoclonus [bmcneurol.biomedcentral.com]

• Hemichorea

  The patient, who is followed up from 9 to 13 years of age, had dysmorphic features, developmental delay, short stature, and microcephaly, in addition to focal dystonia and hemichorea (in the right and left lower extremities). [karger.com]

• Delayed Milestone

  Maternal male cousin, age 4(III-7), had delayed milestones, attention deficit hyperactivity disorder, anxiety, and behavioral concerns. There was history of frequent choking; however, video-fluroscopy was normal. [bmcneurol.biomedcentral.com]

Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants. Parkinsonism Relat Disord. 2020;77:76–82. Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, et al. [karger.com]

During the 2-year follow-up period, 66 patients (62.9%) were treated conservatively, and the patients with conservative treatment were mainly A2 and B2 type (59.1%). Thirty-nine patients (37.1%) underwent surgical treatment. [pesquisa.bvsalud.org]

Brain dopamine-serotonin vesicular transport disease and its treatment. N Engl J Med. 2013;368:543–50. [PubMed: 23363473] Robottom BJ, Reich SG. [ncbi.nlm.nih.gov]

Additionally, we also suggest that bilateral GPi-DBS could be an effective treatment option for patients with KMT2B-related dystonia. [e-jmd.org]

[…] patients 10.1002/mds.10045 Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type 1 10.1006/mgme.2000.3082 Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment [paperbase.net]

Artículo en Inglés | MEDLINE | ID: mdl-36933061 RESUMEN Pancreatic ductal adenocarcinoma (PDAC) is insidious and highly malignant with extremely poor prognosis and drug resistance to current chemotherapies. [pesquisa.bvsalud.org]

Careful attention to history and comprehensive physical exam can yield clues to etiology. [bmcneurol.biomedcentral.com]

Since 2016, several mutations in the KMT2B gene have been identified as a new etiology of early-onset dystonia (5–9). [frontiersin.org]

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet. 2019;64:803-13. Lange LM, Tunc S, Tennstedt S. [bmcneurol.biomedcentral.com]

[…] dystonicus 10.1007/s00701-020-04618-w GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations 10.1023/B:BOLI.0000037349.08483.96 Pathophysiology [paperbase.net]

We also provide insights into the molecular pathophysiology of this disorder, documenting that KMT2B haploinsufficiency causes specific DNA hypermethylation of promoters and other regulatory regions positively controlling gene expression, pointing to [clinicalepigeneticsjournal.biomedcentral.com]

Our results reveal a molecular mechanism that prevents hyperactivation of innate immune signalling, which operates at REs. [pesquisa.bvsalud.org]