Movement disorders in children with a mitochondrial disease: A cross-sectional survey from the nationwide italian collaborative network of mitochondrial diseases
| Autor: | Claudia Dosi, Chiara Ticci, Tiziana Mongini, Diego Martinelli, Carlo Minetti, Paola Tonin, Anna Rubegni, Isabella Moroni, Antonio Toscano, Roberta Scalise, Valerio Carelli, Luca Bello, Daria Diodato, Chiara La Morgia, Olimpia Musumeci, Roberta Battini, Massimiliano Filosto, Silvia Marchet, Maria Alice Donati, Irene Bonato, Elia Pancheri, Gabriele Siciliano, Costanza Simoncini, Michelangelo Mancuso, Filippo M. Santorelli, Elena Pegoraro, Daniele Orsucci, Chiara Fiorillo, Maurizio Moggio, Enrico Bertini, Flavia Tubili, Stefano Doccini, M. Sciacco, Serenella Servidei, Guido Primiano, Claudio Bruno, Costanza Lamperti, Anna Ardissone, Deborah Tolomeo, V. Montano, Elena Procopio |
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| Přispěvatelé: | Ticci C., Orsucci D., Ardissone A., Bello L., Bertini E., Bonato I., Bruno C., Carelli V., Diodato D., Doccini S., Donati M.A., Dosi C., Filosto M., Fiorillo C., La Morgia C., Lamperti C., Marchet S., Martinelli D., Minetti C., Moggio M., Mongini T.E., Montano V., Moroni I., Musumeci O., Pancheri E., Pegoraro E., Primiano G., Procopio E., Rubegni A., Scalise R., Sciacco M., Servidei S., Siciliano G., Simoncini C., Tolomeo D., Tonin P., Toscano A., Tubili F., Mancuso M., Battini R., Santorelli F.M. |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Movement disorders Ataxia Childhood onset Mitochondrial disease Movement disorder Multicenter cross-sectional study Context (language use) Article 03 medical and health sciences 0302 clinical medicine medicine Diseases database internet.website internet 030304 developmental biology Dystonia 0303 health sciences business.industry Chorea General Medicine medicine.disease mitochondrial disease movement disorder childhood onset multicenter cross-sectional study Medicine medicine.symptom business Myoclonus 030217 neurology & neurosurgery |
| Zdroj: | Journal of Clinical Medicine, Vol 10, Iss 2063, p 2063 (2021) Journal of Clinical Medicine Journal of Clinical Medicine; Volume 10; Issue 10; Pages: 2063 |
| Popis: | Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs querying the Nationwide Italian Collaborative Network of Mitochondrial Diseases database. Using a customized online questionnaire, we attempted to collect data from the subgroup of patients with movement disorders. Complete information was available for 102 patients. Movement disorder was the presenting feature of MD in 45 individuals, with a mean age at onset of 11 years. Ataxia was the most common movement disorder at onset, followed by dystonia, tremor, hypokinetic disorders, chorea, and myoclonus. During the disease course, most patients (67.7%) encountered a worsening of their movement disorder. Basal ganglia involvement, cerebral white matter changes, and cerebellar atrophy were the most commonly associated neuroradiological patterns. Forty-one patients harbored point mutations in the mitochondrial DNA, 10 carried mitochondrial DNA rearrangements, and 41 cases presented mutations in nuclear-DNA-encoded genes, the latter being associated with an earlier onset and a higher impairment in activities of daily living. Among our patients, 32 individuals received pharmacological treatment; clonazepam and oral baclofen were the most commonly used drugs, whereas levodopa and intrathecal baclofen administration were the most effective. A better delineation of the movement disorders phenotypes starting in childhood may improve our diagnostic workup in MDs, fine tuning management, and treatment of affected patients. |
| Databáze: | OpenAIRE |
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