A Patient with Genetically Confirmed Myoclonus-Dystonia Responded to Anticholinergic Treatment and Improved Spontaneously
Journal of Clinical Neurology
; : 231-232, 2011.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-111082
Responsible library:
WPRO
ABSTRACT
BACKGROUND:
The various medical treatments applied to myoclonus-dystonia patients with a mutation of the epsilon-sarcoglycan gene (SGCE) have not been beneficial in most cases. Most patients experience progressive deterioration or static clinical courses, with only rare cases of spontaneous remission. CASE REPORT A 19-year-old girl presented with a 14-year history of myoclonus and dystonia that severely affected her left arm, neck, and trunk. Genetic studies showed a mutation in SGCE [deletion in exon 6 (c.771_772delAT, Cys258X)]. Both myoclonus and dystonia responded to anticholinergic treatment for 7 years and improved spontaneously.CONCLUSIONS:
The possibility of spontaneous improvement should be kept in mind when considering the therapeutic strategy in myoclonus-dystonia patients, especially when contemplating deep-brain stimulation.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Arm
/
Remission, Spontaneous
/
Exons
/
Cholinergic Antagonists
/
Sarcoglycans
/
Dystonia
/
Myoclonus
/
Neck
Limits:
Humans
Language:
English
Journal:
Journal of Clinical Neurology
Year:
2011
Document type:
Article