Background: Myoclonus-dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common. Case report: A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan (SGCE) gene is presented with rapid jerks of the right leg interfering with walking. She has also manifested dystonic posture and jerks of the trunk and proximal upper limbs. Discussion: Although it is not typical, leg involvement could be a manifestation of myoclonus-dystonia either at presentation or during disease progression.
Gait Impairment in Myoclonus-Dystonia (DYT-SGCE)
Fasano A;
2019-01-01
Abstract
Background: Myoclonus-dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common. Case report: A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan (SGCE) gene is presented with rapid jerks of the right leg interfering with walking. She has also manifested dystonic posture and jerks of the trunk and proximal upper limbs. Discussion: Although it is not typical, leg involvement could be a manifestation of myoclonus-dystonia either at presentation or during disease progression.File in questo prodotto:
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