Academic Journal
A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III
| العنوان: | A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III |
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| المؤلفون: | Muhammad Sohail Ajmal Ghoauri, Nauman Ismat Butt, Dur-e-Sabeeh, Muhammad Bilal Rasheed, Muhammad Umair Javed, Fahmina Ashfaq |
| المصدر: | Journal of Aziz Fatimah Medical and Dental College, Vol 5, Iss 2 (2023) |
| بيانات النشر: | Aziz Fatimah Medical and Dental College, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Dentistry LCC:Medicine (General) |
| مصطلحات موضوعية: | Machado-Joseph Disease, Spinocerebellar Ataxia Type III, Neurodegeneration, Ataxia., Dentistry, RK1-715, Medicine (General), R5-920 |
| الوصف: | Machado-Joseph Disease, also known as Spinocerebellar Ataxia Type III, was initially described in patients of Azorean heritage as a neurodegenerative disease but is now known to occur globally. The main clinical involvement is cerebellar and brainstem dysfunction causing progressive ataxia and usually disease onset is in young-adult to mid-adult years. A 20-year old female presented with a 3-year history of gradual onset, progressively worsening gait abnormality and tremor of the right hand. On examination, she had gargoyle-like facial features and pes cavus. On neurologic examination, she had dystonic tremor of right hand, cerebellar ataxia, dysdiadokokinesia, abnormal heel-shin coordination, hyperreflexia with downgoing plantar reflex bilaterally. Her MRI scan brain revealed communicating hydrocephalus with cerebellar atrophy. She was diagnosed with Machado-Joseph Disease/Spinocerebellar Ataxia type III. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2706-7238 2706-7246 |
| Relation: | https://journal.afmdc.edu.pk/index.php/AFMDC/article/view/260; https://doaj.org/toc/2706-7238; https://doaj.org/toc/2706-7246 |
| DOI: | 10.55279/jafmdc.v5i2.260 |
| URL الوصول: | https://doaj.org/article/e7b491e8653640eb87bff71c7a3dcb99 |
| رقم الانضمام: | edsdoj.7b491e8653640eb87bff71c7a3dcb99 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 27067238 27067246 |
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| DOI: | 10.55279/jafmdc.v5i2.260 |