Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy
Machado-Joseph disease (MJD) is a rare autosomal dominant disease caused by a mutation in exon 10 of the ATXN3 gene resulting from a cytosine-adenine-guanine trinucleotide repeat. A case of a 48-year-old man with MJD is reported. His father, two paternal aunts, and his older sister all died because...
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| Format: | Article |
| Language: | English |
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Galenos Publishing House
2024-11-01
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| Series: | Caucasian Medical Journal |
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| Online Access: | https://caucasianmedj.com/articles/machado-joseph-disease-a-case-report-of-treatment-based-on-phototherapy/doi/cmj.galenos.2024.02411 |
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| author | Hugo Mendieta Zerón David Emmanuel González Mendoza Pamela Lagos Robles Miriam Deyanira Rodriguez Piña |
| author_facet | Hugo Mendieta Zerón David Emmanuel González Mendoza Pamela Lagos Robles Miriam Deyanira Rodriguez Piña |
| author_sort | Hugo Mendieta Zerón |
| collection | DOAJ |
| description | Machado-Joseph disease (MJD) is a rare autosomal dominant disease caused by a mutation in exon 10 of the ATXN3 gene resulting from a cytosine-adenine-guanine trinucleotide repeat. A case of a 48-year-old man with MJD is reported. His father, two paternal aunts, and his older sister all died because of this disease, and his younger brother had the same disease. Due to the absence of therapeutic options, phototherapy sessions were offered as an alternative between 425 and 650 nm 1.33 Joules/cm2, 30 cm above the chest. After three months of phototherapy sessions, the following items showed a decrease in their scores: physical functioning, role limitations due to physical health, role limitations due to emotional problems, energy/fatigue, emotional well-being, social functioning, and general health. The only variable that remained unchanged was pain. He discontinued treatment, attributed the deterioration to phototherapy. A year later, as the disease progressed, he decided to resume the same scheme, and the following trends were observed: a) Improvement in role limitations due to physical health, emotional well-being, social functioning, and general health; b) No changes in role limitations due to emotional problems and pain and c) deterioration in energy/fatigue. |
| format | Article |
| id | doaj-art-cf840d7cedab4be9829a10d8e34438a6 |
| institution | Kabale University |
| issn | 2980-1818 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Caucasian Medical Journal |
| spelling | doaj-art-cf840d7cedab4be9829a10d8e34438a62025-01-20T07:40:14ZengGalenos Publishing HouseCaucasian Medical Journal2980-18182024-11-0123363910.4274/cmj.galenos.2024.02411Machado-Joseph Disease, A Case Report of Treatment Based on PhototherapyHugo Mendieta Zerón0https://orcid.org/0000-0003-3492-8950David Emmanuel González Mendoza1https://orcid.org/0000-0002-3480-2621Pamela Lagos Robles2https://orcid.org/0000-0001-8503-5904Miriam Deyanira Rodriguez Piña3https://orcid.org/0000-0003-1882-2814Autonomous University of the State of Mexico, Faculty of Medicine, Laboratory of Genetics, Toluca, State of Mexico, MexicoAutonomous University of the State of Mexico, Faculty of Medicine, Laboratory of Genetics, Toluca, State of Mexico, MexicoAutonomous University of the State of Mexico, Faculty of Medicine, Laboratory of Genetics, Toluca, State of Mexico, MexicoAutonomous University of the State of Mexico, Faculty of Medicine, Laboratory of Genetics, Toluca, State of Mexico, MexicoMachado-Joseph disease (MJD) is a rare autosomal dominant disease caused by a mutation in exon 10 of the ATXN3 gene resulting from a cytosine-adenine-guanine trinucleotide repeat. A case of a 48-year-old man with MJD is reported. His father, two paternal aunts, and his older sister all died because of this disease, and his younger brother had the same disease. Due to the absence of therapeutic options, phototherapy sessions were offered as an alternative between 425 and 650 nm 1.33 Joules/cm2, 30 cm above the chest. After three months of phototherapy sessions, the following items showed a decrease in their scores: physical functioning, role limitations due to physical health, role limitations due to emotional problems, energy/fatigue, emotional well-being, social functioning, and general health. The only variable that remained unchanged was pain. He discontinued treatment, attributed the deterioration to phototherapy. A year later, as the disease progressed, he decided to resume the same scheme, and the following trends were observed: a) Improvement in role limitations due to physical health, emotional well-being, social functioning, and general health; b) No changes in role limitations due to emotional problems and pain and c) deterioration in energy/fatigue.https://caucasianmedj.com/articles/machado-joseph-disease-a-case-report-of-treatment-based-on-phototherapy/doi/cmj.galenos.2024.02411palliative carephototherapyspinocerebellar ataxia type 3 |
| spellingShingle | Hugo Mendieta Zerón David Emmanuel González Mendoza Pamela Lagos Robles Miriam Deyanira Rodriguez Piña Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy Caucasian Medical Journal palliative care phototherapy spinocerebellar ataxia type 3 |
| title | Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy |
| title_full | Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy |
| title_fullStr | Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy |
| title_full_unstemmed | Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy |
| title_short | Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy |
| title_sort | machado joseph disease a case report of treatment based on phototherapy |
| topic | palliative care phototherapy spinocerebellar ataxia type 3 |
| url | https://caucasianmedj.com/articles/machado-joseph-disease-a-case-report-of-treatment-based-on-phototherapy/doi/cmj.galenos.2024.02411 |
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