A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III | [Journal of Aziz Fatimah Medical and Dental College • 2023]

Author(s):

1. Muhammad Sohail Ajmal Ghoauri: Bahawal Victoria Hospital, Quaid-e-Azam Medical College, BHV, Pakistan

2. Nauman Ismat Butt: Azra Naheed Medial College, Lahore, Pakistan

3. Dur-e-Sabeh: Bahawal Victoria Hospital, Quaid-e-Azam Medical College, BHV, Pakistan

4. Muhammad Bilal Rasheed: Bahawal Victoria Hospital, Quaid-e-Azam Medical College, BHV, Pakistan

5. Muhammad Umair Javed: Azra Naheed Medial College, Lahore, Pakistan

6. Fahmina Ashfaq: Allama Iqbal Medical College, Lahore, Pakistan

Abstract:

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 down going plantar reflex bilaterally. Her MRI scan brain revealed communicating hydrocephalus with cerebellar atrophy. She was diagnosed with Machado-Joseph Disease/Spinocerebellar Ataxia type III.

Page(s): 71-73

DOI: DOI not available

Published: Journal: Journal of Aziz Fatimah Medical and Dental College, Volume: 5, Issue: 2, Year: 2023

Keywords:

Neurodegeneration , MachadoJoseph Disease , Ataxia , Spinocerebellar Ataxia Type III

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