A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III
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 usua...
| Published in: | Journal of Aziz Fatimah Medical and Dental College |
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| Main Authors: | , , , , , |
| Format: | Article |
| Language: | English |
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Aziz Fatimah Medical and Dental College
2023-12-01
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| Subjects: | |
| Online Access: | https://journal.afmdc.edu.pk/index.php/AFMDC/article/view/260 |
| Summary: | 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.
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| ISSN: | 2706-7238 2706-7246 |