Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial dysmorphism-hand anomalies syndrome Intellectual disability-feeding [se-atlas.de]

A plethora of articles on myoclonus-dystonia syndrome (MDS) are published in current literature. [pediatricneurologybriefs.com]

Note the small triangular-shaped face with prominent forehead and frontal bosses, hypertelorism, small mouth with thin lips, micrognathia with pointed chin, and low posterior-rotated and overfolded ears. [jamanetwork.com]

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hypertelorism [se-atlas.de]

Note the small triangular-shaped face with prominent forehead and frontal bosses, hypertelorism, small mouth with thin lips, micrognathia with pointed chin, and low posterior-rotated and overfolded ears. [jamanetwork.com]

Note the small triangular-shaped face with prominent forehead and frontal bosses, hypertelorism, small mouth with thin lips, micrognathia with pointed chin, and low posterior-rotated and overfolded ears. [jamanetwork.com]

Note the small triangular-shaped face with prominent forehead and frontal bosses, hypertelorism, small mouth with thin lips, micrognathia with pointed chin, and low posterior-rotated and overfolded ears. [jamanetwork.com]

Primary dystonia or “pure” dystonia is only physiological in origin. [en.wikipedia.org]

Treatment of myoclonus-dystonia syndrome with tetrabenazine. Parkinsonism and Related Disorders, 20 (12), 1423-1426. Treatment of myoclonus-dystonia syndrome with tetrabenazine. / Luciano, Angelo Y.; Jinnah, H. [uthsc.pure.elsevier.com]

Term used to describe myoclonic dystonia include: myoclonic dystonia, inherited myoclonus-dystonia syndrome, DYT11 dystonia Note: Some researchers believe myoclonus dystonia is a variation of hereditary essential myoclonus. [dystonia.ie]

Acronym DYT11 Synonyms Alcohol-responsive dystonia Dystonia-11 Myoclonic dystonia Myoclonus-dystonia syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Terms used to describe myoclonic dystonia include: myoclonus dystonia, inherited myoclonus-dystonia syndrome, DYT11 dystonia Note: Some researchers believe myoclonic dystonia is a variation of hereditary essential myoclonus. [dystoniacanada.org]

For instance, many people may occasionally experience a myoclonic jerk when falling asleep. [dystonia.org.uk]

MD tends to produce myoclonic jerks and dystonia in the upper body. [tremorjournal.org]

Five patients showed myoclonic jerks, including negative myoclonus. In all registered patients EEG-EMG coherence analysis and/or back-averaging proved a cortical origin of myoclonus. [ojrd.biomedcentral.com]

The clinical presentation of myoclonic jerks and dystonia in combination with arrhythmias in this family pointed to a possible channelopathy. [academic.oup.com]

Myoclonus-dystonia (M-D) is a movement disorder characterized by a combination of myoclonic jerks and dystonia. Myoclonus, the principal feature, predominates in the arms and axial muscles and is often responsive to alcohol. [jamanetwork.com]

Her neurological examination demonstrated mild cognitive impairment, myoclonus-dystonia, and skeletal anomalies. Conclusions: Here, we report the unique phenotype of an adult TUBB2B mutation carrier. [karger.com]

Despite the noted cerebellar dysfunction in the patient group as well as in other types of dystonia, the lack of clinical cerebellar signs on exam could be related to distortion of the cerebellar output, which could minimize the clinical picture. [ahcmedia.com]