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 usual...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Aziz Fatimah Medical and Dental College,
2023-12-01T00:00:00Z.
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| 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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| Item Description: | 10.55279/jafmdc.v5i2.260 2706-7238 2706-7246 |