scholarly journals Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

2018 ◽  
Vol 8 (0) ◽  
pp. 554 ◽  
Author(s):  
Camille Giron ◽  
Emmanuel Roze ◽  
Bertrand Degos ◽  
Aurélie Méneret ◽  
Claude Jardel ◽  
...  
Keyword(s):  
Adult Onset ◽  
Generalized Dystonia

scholarly journals Reviewing the Clinical Spectrum Related to Kmt2b Gene Mutations: Unusual Clinical Presentation and a Possible New Pathogenic Mutation

2021 ◽  
Author(s):  
Cristina del Toro ◽  
Jesús Olivares Romero
Keyword(s):  
Gene Mutations ◽  
Index Patient ◽  
Pathogenic Mutation ◽  
Focal Dystonia ◽  
Clinical Spectrum ◽  
Its Sequencing ◽  
Adult Onset ◽  
Childhood Onset ◽  
Variant Of Uncertain Significance ◽  
Generalized Dystonia

Abstract Introduction KMT2B related dystonia is a childhood onset generalized dystonia. Since its first description in 2016, different phenotypic spectrum have been reported. The aim of the case report is to provide data that may help to understand the spectrum of KMT2B-related disorders. We present two members of a family with a possible non-previously described pathogenic mutation and an unusual KMT2B related dystonia presentation: an adult onset and focal dystonia.Case Presentation The index patient is a 32 year-old woman with a generalized dystonia. Her maternal uncle presented a focal dystonia. Next-generation sequencing revealed a heterozygous missense mutation in KMT2B gene (19q13.12), described as a variant of uncertain significance (VUS). Although characteristic phenotype of KMT2B dystonia is a childhood onset generalized dystonia, different phenotypes have been related according to the kinds of mutations in this gene, also varying the age of symptom onset and the penetrance of the mutation. Asymptomatic or sub-clinical carriers and adult onset has been described. Due to the low prevalence of this variant in the general population and the low penetrance and high intrafamilial variability of this entity, we suggest that this mutation might be a pathogenic variant.ConclusionsKMT2B related dystonia is an emerging and prevalent monogenic dystonia whose incidence, genetic variability and clinical spectrum remain unknown. Despite the study of this gene is indicated in childhood onset dystonia, description of cases such as ours shows that its sequencing in patients with an adult-onset dystonia with family history can be useful for the diagnosis.

scholarly journals Idiopathic dystonia clinical, profile of 76 brazilian patients

1992 ◽  
Vol 50 (4) ◽  
pp. 426-432 ◽  
Author(s):  
Luiz A. F. Andrade ◽  
Henrique B. Ferraz
Keyword(s):  
Age Of Onset ◽  
Spasmodic Torticollis ◽  
Adult Onset ◽  
Racial Origin ◽  
Body Distribution ◽  
Abnormal Movements ◽  
Segmental Dystonia ◽  
Generalized Dystonia ◽  
Male Patients ◽  
Idiopathic Dystonia

Dystonia may be classified by age of onset (childhood, adolescence, adult onset), body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized) and etiology (idiopathic and symptomatic). We studied 76 patients with idiopathic dystonia among 122; cases of dystonic syndrome (62.3% of the total). There were 48 female and 28 male patients. Adult-onset focal dystonia was the most frequent feature (37 patients). The onset of generalized dystonia was more frequently seen under the age of 20, whereas focal and segmental dystonia usually started over this age. Postural tremor of the hands was observed in 19.7% of the patients. Spasmodic torticollis was the most prevalent form of dystonia overall. Except for writer's cramp, which occurred more frequently in males, and generalized dystonia, which was equally divided between sexes, all other forms were more frequent in females. Our data suggest that differences in racial origin, social and economical status and environmental factors do not account for a different manifestation in dystonia pattern.

Adult‐onset generalized dystonia due to a mutation in the neuroferritinopathy gene

2004 ◽  
Vol 20 (2) ◽  
pp. 243-245 ◽  
Author(s):  
Pablo Mir ◽  
Mark J. Edwards ◽  
Andrew R.J. Curtis ◽  
Kailash P. Bhatia ◽  
Niall P. Quinn
Keyword(s):  
Adult Onset ◽  
Generalized Dystonia

Gangliosidoses (GM1 and GM2)

2016 ◽  
Author(s):  
Emmanuel Roze ◽  
Frédéric Sedel
Keyword(s):  
Neurological Disorders ◽  
Speech Therapy ◽  
Clinical Severity ◽  
Psychotic Symptoms ◽  
Adult Onset ◽  
Axonal Polyneuropathy ◽  
Rate Of Progression ◽  
Generalized Dystonia ◽  
Beta Galactosidase

GM1 gangliosidosis is due to beta-galactosidase deficiency. The adult-onset form is characterized by progressive generalized dystonia, often associated with akineto-rigid Parkinsonism. Mild skeletal dysplasia and short stature are good diagnostic clues. GM2 gangliosidosis is due to beta-hexosaminidase deficiency. The adult-onset form is characterized by complex neurological disorders, in which features resulting from cerebellar and motor neuron dysfunction are the most frequent. Movement disorders, psychotic symptoms, mild pyramidal signs, axonal polyneuropathy, autonomic dysfunction, and vertical supranuclear palsy can also be observed. Clinical severity and the rate of progression both vary widely from one patient to another. Diagnosis is based on measurements of enzyme activity and molecular analysis. Physiotherapy, speech therapy and management of swallowing are crucial for these patients’ quality of life and prognosis.

Adult-Onset Asthma Is Common But Largely Underrecognized

Ob Gyn News ◽  
2005 ◽  
Vol 40 (8) ◽  
pp. 46
Author(s):  
KATE JOHNSON
Keyword(s):  
Adult Onset

Large Study Links Rhinitis to Adult-Onset Asthma

2008 ◽  
Vol 38 (21) ◽  
pp. 30
Author(s):  
SHARON WORCESTER
Keyword(s):  
Large Study ◽  
Adult Onset

Auditorisches Training auch bei früher Schizophrenie-Erkrankung wirksam

2020 ◽  
Vol 88 (08) ◽  
pp. 488-489
Keyword(s):  
Early Onset ◽  
Adult Onset ◽  
Early Onset Schizophrenia

Die wenigen Studien zum kognitiven Training bei Patienten mit früh beginnender Schizophrenie (Early-Onset-Schizophrenia, EOS) zeigten einen geringeren Behandlungserfolg als das kognitive Training bei Patienten, die als Erwachsene erkrankt sind (Adult-Onset-Schizophrenia, AOS). Eine Sekundäranalyse zweier Studien prüfte jetzt, ob ein auditorisches Training (AT) bei beiden Patientengruppen unterschiedlich wirksam ist.

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