Results of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 Mutation
Cerebellar 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...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2021-09-01
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| Series: | Türk Nöroloji Dergisi |
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| Online Access: | https://tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-24196&look4= |
| _version_ | 1797919711029100544 |
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| author | Özlem Menevşe Sevil Bilgin Murat Gültekin |
| author_facet | Özlem Menevşe Sevil Bilgin Murat Gültekin |
| author_sort | Özlem Menevşe |
| collection | DOAJ |
| description | Cerebellar 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. |
| first_indexed | 2024-04-10T13:49:47Z |
| format | Article |
| id | doaj.art-49abbdf20e2e4c29a26b791ec4a0e78f |
| institution | Directory Open Access Journal |
| issn | 1309-2545 |
| language | English |
| last_indexed | 2024-04-10T13:49:47Z |
| publishDate | 2021-09-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Nöroloji Dergisi |
| spelling | doaj.art-49abbdf20e2e4c29a26b791ec4a0e78f2023-02-15T16:10:45ZengGalenos YayineviTürk Nöroloji Dergisi1309-25452021-09-0127333433910.4274/tnd.2021.24196Results of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 MutationÖzlem Menevşe0https://orcid.org/0000-0002-5602-455XSevil Bilgin1https://orcid.org/0000-0003-1597-1312Murat Gültekin2https://orcid.org/0000-0002-0609-4269Nuh Naci Yazgan University Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Kayseri, TurkeyHacettepe University Faculty of Physical Therapy and Rehabilitation, Department of Physiotherapy and Rehabilitation, Ankara, TurkeyErciyes University Faculty of Medicine, Department of Neurology, Kayseri, TurkeyCerebellar 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.https://tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-24196&look4=hereditary ataxiamyoclonusbalancephysiotherapycervical stabilization |
| spellingShingle | Özlem Menevşe Sevil Bilgin Murat Gültekin Results of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 Mutation Türk Nöroloji Dergisi hereditary ataxia myoclonus balance physiotherapy cervical stabilization |
| title | Results of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 Mutation |
| title_full | Results of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 Mutation |
| title_fullStr | Results of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 Mutation |
| title_full_unstemmed | Results of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 Mutation |
| title_short | Results of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 Mutation |
| title_sort | results of special neck exercises in a patient with cerebellar ataxia and axial myoclonus due to adck3 mutation |
| topic | hereditary ataxia myoclonus balance physiotherapy cervical stabilization |
| url | https://tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-24196&look4= |
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