Results of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 Mutation

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dc.authoridMENEVSE, OZLEM/0000-0002-5602-455X
dc.contributor.authorMenevse, Ozlem
dc.contributor.authorBilgin, Sevil
dc.contributor.authorGultekin, Murat
dc.date.accessioned2025-02-24T17:19:08Z
dc.date.available2025-02-24T17:19:08Z
dc.date.issued2021
dc.departmentFakülteler, Sağlık Bilimleri Fakültesi, Fizyoterapi ve Rehabilitasyon Bölümü
dc.description.abstractCerebellar ataxia associated with the aarF-domain-containing kinase 3 ( ADCK3) gene mutation is a hereditary type of ataxia related to autosomal recessive cerebellar ataxias. Additional symptoms, such as epileptic seizures, pyramidal signs, and myoclonus, may be seen in this progressive ataxia. This case report aimed to present the results of the physiotherapy and rehabilitation program of a 19-year-old patient with cerebellar ataxia and myoclonus, due to coenzyme Q10 deficiency, associated with the ADCK3 gene mutation. International cooperative ataxia rating scale, mini-mental state examination, observational posture analysis, unified myoclonus rating scale, Purdue-Pegboard test, timed up and go test, functional and computerized balance tests, and Nottingham health profile were used when evaluating the patient. The patient underwent special neck exercises consisting of reeducation of neutral posture and cervical stabilization exercises for three days a week, totaling nine weeks. At the end of the treatment, improvement in the patient's posture, marked decrease in myoclonus, and significant improvements in fine hand skills, balance parameters, and quality of life were obtained. It is likely that the physiotherapy approach, consisting of special neck exercises, has improved postural control by contributing to the development of the sensory processes needed to achieve postural control. Therefore, special neck exercises have the potential to be an alternative treatment option for these patients.
dc.identifier.doi10.4274/tnd.2021.24196
dc.identifier.endpage339
dc.identifier.issn1301-062X
dc.identifier.issn1309-2545
dc.identifier.issue3
dc.identifier.scopus2-s2.0-85118682421
dc.identifier.scopusqualityQ4
dc.identifier.startpage334
dc.identifier.trdizinid479989
dc.identifier.urihttps://doi.org/10.4274/tnd.2021.24196
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/479989
dc.identifier.urihttps://hdl.handle.net/20.500.14440/1021
dc.identifier.volume27
dc.identifier.wosWOS:000708064100020
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.publisherTurkish Neurological Soc
dc.relation.ispartofTurkish Journal of Neurology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250201
dc.subjectHereditary ataxia
dc.subjectmyoclonus
dc.subjectbalance
dc.subjectphysiotherapy
dc.subjectcervical stabilization
dc.titleResults of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 Mutation
dc.typeArticle

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