Details

Autor(en) / Beteiligte

• Vanegas, Maria I.
• Marcé-Grau, Anna
• Martí-Sánchez, Laura
• Mellid, Sara
• Baide-Mairena, Heidy
• Correa-Vela, Marta
• Cazurro, Anna
• Rodríguez, Carla
• Toledo, Laura
• Fernández-Ramos, Joaquín Alejandro
• Pons, Roser
• Aguilera-Albesa, Sergio
• Martí, Maria José
• Eiris, Jesús
• Iglesias, Gema
• De Fabregues, Oriol
• Maqueda, Elena
• Garriz-Luis, Maite
• Madruga, Marcos
• Espinós, Carmen
• Macaya, Alfons
• Cabrera, José Carlos
• Pérez-Dueñas, Belén

Titel

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome

Ist Teil von

• Parkinsonism & related disorders, 2020-11, Vol.80, p.165-174

Ort / Verlag

England: Elsevier Ltd

Erscheinungsjahr

2020

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• To perform phenotype and genotype characterization in myoclonus-dystonia patients and to validate clinical rating tools. Two movement disorders experts rated patients with the Burke-Fahn-Marsden and Unified-Myoclonus rating scales using a video-recording protocol. Clinimetric analysis was performed. SGCE mutations were screened by Sanger sequencing and multiplex ligation-dependent probe amplification. 48 patients were included and 43/48 rated. Mean age at assessment was 12.9±10.5 years (range 3–51) and 88% were ≤18 years of age. Myoclonus was a universal sign with a rostro-caudal severity-gradient. Myoclonus increased in severity and spread to lower limbs during action tests. Stimulus-evoked myoclonus was observed in 86.8% cases. Dystonia was common but mild. It had a focal distribution and was action-induced, causing writer's cramp (69%) and gait dystonia (34%). The severity of both myoclonus and dystonia had a strong impact on hand writing and walking difficulties. The Unified Myoclonus Rating scale showed the best clinimetric properties for the questionnaire, action myoclonus and functional subscales, and exceeded the Burke-Fahn-Marsden scale in its utility in assessing functional impairment in MDS patients. Twenty-one different SGCE mutations were identified in 45/48 patients, eleven being novel (most prevalent p. Val187*, founder mutation in Canary Islands). This study quantifies the severity of the motor phenotype in SGCE-myoclonus dystonia syndrome, with a special focus on children, and identifies disabilities in gross and fine motor tasks that are essential for childhood development. Our results contribute to the knowledge of SGCE-related MDS in the early stage of evolution, where disease-modifying therapies could be initiated in order to prevent long-term social and physical burdens. •In children with MDS-SGCE, myoclonus was a universal sign.•Myoclonus and dystonia had a strong and independent impact on gross and fine motor tasks.•The UMRS exceeded the BFMDRS in its utility in assessing functional impairment.•A specific questionnaire and motor scale for pre-school children should be designed.