Gait Impairment in Myoclonus–Dystonia (DYT-SGCE)

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...

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Detalles Bibliográficos
Autores principales: Haeri, Ghazal, Shahidi, Gholamali, Fasano, Alfonso, Rohani, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691910/
https://www.ncbi.nlm.nih.gov/pubmed/31413899
http://dx.doi.org/10.7916/tohm.v0.656
Descripción
Sumario: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.

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