A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III

Care Report: Spinocerebellar Ataxia Type III


  • Muhammad Sohail Ajmal Ghoauri
  • Nauman Ismat Butt
  • Dur-e-Sabeeh
  • Muhammad Bilal Rasheed
  • Muhammad Umair Javed
  • Fahmina Ashfaq




Machado-Joseph Disease, Spinocerebellar Ataxia Type III, Neurodegeneration, Ataxia.


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.




How to Cite

Ghoauri , M. S. A. ., Butt, N. I. ., Dur-e-Sabeeh, Rasheed, M. B., Javed, M. U., & Ashfaq, F. (2023). A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III: Care Report: Spinocerebellar Ataxia Type III. Journal of Aziz Fatimah Medical & Dental College, 5(2), 71–73. https://doi.org/10.55279/jafmdc.v5i2.260

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