Faculty Opinions recommendation of A role for cerebellum in the hereditary dystonia DYT1.

2017 ◽  
Author(s):  
Buz Jinnah
Keyword(s):  
Hereditary 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.

Genetic evaluation in hereditary dystonia

2012 ◽  
pp. 22-52 ◽  
Author(s):  
Christine Klein ◽  
Laurie J. Ozelius
Keyword(s):  
Genetic Evaluation ◽  
Hereditary Dystonia

Hereditary dystonia-parkinsonism syndrome of juvenile onset

Neurology ◽  
1986 ◽  
Vol 36 (11) ◽  
pp. 1424-1424 ◽  
Author(s):  
T. G. Nygaard ◽  
R. C. Duvoisin
Keyword(s):  
Juvenile Onset ◽  
Hereditary Dystonia

scholarly journals Functional imaging in hereditary dystonia

2010 ◽  
Vol 17 ◽  
pp. 58-64 ◽  
Author(s):  
M. Carbon ◽  
M. Argyelan ◽  
D. Eidelberg
Keyword(s):  
Functional Imaging ◽  
Hereditary Dystonia

scholarly journals New algorithm for the diagnosis of hereditary dystonia

2012 ◽  
Vol 70 (9) ◽  
pp. 715-717 ◽  
Author(s):  
Sarah Camargos ◽  
Francisco Cardoso
Keyword(s):  
Fast Algorithm ◽  
Hereditary Dystonia

Taking into account the crescent interest in the field of dystonia genetics, we have organized a didactic and fast algorithm to diagnose the main forms of hereditary dystonias. The key branch of this algorithm is pointed to dystonia classification in primary, plus, or paroxysmal. The specific characteristics of each syndrome will reveal the diagnosis.

Hereditary dystonia -Phenotype of DYT1-

2012 ◽  
Vol 52 (11) ◽  
pp. 1071-1073
Author(s):  
Fusako Yokochi
Keyword(s):  
Hereditary Dystonia
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