Heterozygous EIF2AK2 variant causes adolescence‐onset generalized dystonia partially responsive to DBS

2021 ◽  
Author(s):  
Francesca Magrinelli ◽  
Dalila Moualek ◽  
Meriem Tazir ◽  
Lamia Ali Pacha ◽  
Alice Verghese ◽  
...  
Keyword(s):  
Generalized Dystonia

Severity and DYT1 status predict outcome after chronic bilateral pallidal stimulation in children and adolescents with primary generalized dystonia

2008 ◽  
Vol 39 (05) ◽  
Author(s):  
I Borggraefe ◽  
JH Mehrkens ◽  
M Telegravciska ◽  
S Berweck ◽  
K Bötzel ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Pallidal Stimulation ◽  
Generalized Dystonia

scholarly journals A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia

2021 ◽  
Author(s):  
Edoardo Monfrini ◽  
Filippo Cogiamanian ◽  
Sabrina Salani ◽  
Letizia Straniero ◽  
Gigliola Fagiolari ◽  
...  
Keyword(s):  
Generalized Dystonia

Involvement of sensory system in generalized dystonia – Evaluation of premovement gating in somatosensory evoked potentials (SEPs)

2007 ◽  
Vol 118 (9) ◽  
pp. e193-e194
Author(s):  
K. Kimura ◽  
Y. Nomura ◽  
Y. Nagao ◽  
K. Hachimori ◽  
Masami Segawa ◽  
...  
Keyword(s):  
Evoked Potentials ◽  
Somatosensory Evoked Potentials ◽  
Sensory System ◽  
Generalized Dystonia

KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment

2021 ◽  
pp. 1-6
Author(s):  
Ayşe Aksoy ◽  
Özlem Yayıcı Köken ◽  
Ahmet Cevdet Ceylan ◽  
Özge Toptaş Dedeoğlu
Keyword(s):  
Clinical Status ◽  
Childhood Onset ◽  
Generalized Dystonia ◽  
Basic Functions ◽  
Turkish Case ◽  
The Right ◽  
Hereditary Dystonia ◽  
Climbing Stairs ◽  
Deep Brain

In this study, we report the first known Turkish case of a novel nonsense mutation c.2453dupT (p.M818fs*28) in the <i>KMT2B</i> (NM_014727.2) gene diagnosed in a male patient with <i>KMT2B</i>-related dystonia (DYT-<i>KMT2B</i>, DYT-28, Dystonia*-28), which is a complex, childhood-onset, progressive, hereditary dystonia. 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). 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. While he was able to perform basic functions like eating, climbing stairs, walking, and writing with the aid of levodopa and trihexyphenidyl treatment, his clinical status gradually deteriorated secondary to progressive generalized dystonia in the 4-year follow-up. Deep brain stimulation has been shown to be effective in several patients which could be the next preferred treatment for the patient.

scholarly journals Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?

2018 ◽  
Vol 12 (1) ◽  
pp. 41-49 ◽  
Author(s):  
Ligia Maria Perrucci Catai ◽  
Carlos Henrique Ferreira Camargo ◽  
Adriana Moro ◽  
Gustavo Ribas ◽  
Salmo Raskin ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Movement Disorders ◽  
Disease Onset ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Generalized Dystonia ◽  
Machado Joseph Disease ◽  
Sca3 Patient ◽  
Type 3

Background:Spinocerebellar Ataxia type 3 (SCA3) or Machado-Joseph Disease (MJD) is characterized by cerebellar, central and peripheral symptoms, including movement disorders. Dystonia can be classified as hereditary and neurodegenerative when present in SCA3.Objective:The objective of this study was to evaluate the dystonia characteristics in patients with MJD.Method:We identified all SCA3 patients with dystonia from the SCA3 HC-UFPR database, between December 2015 and December 2016.Their medical records were reviewed to verify the diagnosis of dystonia and obtain demographic and clinical data. Standardized evaluation was carried out through the classification of Movement Disorders Society of 2013 and Burke Fahn-Marsden scale (BFM).Results:Amongst the presenting some common characteristics, 381 patients with SCA3, 14 (3.7%) subjects presented dystonia: 5 blepharospasm, 1 cervical dystonia, 3 oromandibular, 3 multifocal and 2 generalized dystonia. Regarding dystonia's subtypes, 71.4% had SCA3 subtype I and 28.6% SCA3 subtype II. The average age of the disease onset was 40±10.7 years; the SCA3 disease duration was 11.86± 6.13 years; the CAG repeat lengths ranged from 75 to 78, and the BFM scores ranged from 1.0 to 40. There was no correlation between the dystonia severity and CAG repeat lengths or the SCA3 clinical evolution.Conclusion:Dystonia in SCA3 is frequent and displays highly variable clinical profiles and severity grades. Dystonia is therefore a present symptom in SCA3, which may precede the SCA3 classic symptoms. Dystonia diagnosis is yet to be properly recognized within SCA3 patient.

Generalized Dystonia

1986 ◽  
Vol 9 ◽  
pp. S37-S48 ◽  
Author(s):  
Stanley Fahn
Keyword(s):  
Generalized Dystonia

A young woman with slowly-progressive generalized dystonia

2008 ◽  
Vol 15 (1) ◽  
pp. 94
Author(s):  
Shen-Yang Lim ◽  
Andrew H. Evans
Keyword(s):  
Young Woman ◽  
Generalized Dystonia

Subthalamic nucleus deep brain stimulation after bilateral pallidotomy in the treatment of generalized dystonia

2014 ◽  
Vol 20 (1) ◽  
pp. 131-133 ◽  
Author(s):  
Malgorzata Dec ◽  
Marcin Tutaj ◽  
Monika Rudzińska ◽  
Andrzej Szczudlik ◽  
Henryk Koziara ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Subthalamic Nucleus ◽  
Brain Stimulation ◽  
Generalized Dystonia ◽  
Deep Brain
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