EJMCR. 2020; 4(4): 138-140

A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism

Authors: Gunturu Lakshmi Narasimha.

ABSTRACT

Background: Machado–Joseph Disease (MJD) also known as Spinocerebellar Ataxia3 or Azorean ataxia is a progressive autosomal dominant neurological disorder which affects cerebellum and its function that leads to ataxia and incoordination of gait. Case Presentation: A 20-year old male presented with chief complaints of abnormal posturing of both lower and upper limbs, slurred speech, and a nasal regurgitation. Neurological examination revealed gaze evoked nystagmus, spasticity in both lower limbs which are indicative signs of cerebellar dysfunction. Genomic DNA analysis was performed, and patient condition was diagnosed as MJD with Parkinsonism. Conclusion: Patient was treated symptomatically with medications and physiotherapy to relive symptoms of Parkinsonism. After a week of follow-up, his symptoms were subsided and got discharged.

Keywords:
MJD, autosomal dominant, Ataxia, Parkinsonism, cerebellar dysfunction


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A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism


Authors
Gunturu Lakshmi Narasimha
Pharm. D Student, Department of Pharmacy Practice, Annamacharya College of Pharmacy, Rajampeta, Kadapa, India
PubMed articlesGoogle scholar articles


Correspondence to:
. G. Lakshmi Narasimha, Pharm. D Student, Department of Pharmacy Practice, Annamacharya College of Pharmacy, Rajampeta, Kadapa, India.; gunturunarasimha007@gmail.com

Publication history
Received 02 Jan 2020
Revised 09 Mar 2020
Accepted 24 Mar 2020
Published online 04 Apr 2020
Published in print 24 May 2020

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Pubmed Style

Gunturu Lakshmi Narasimha. A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism. EJMCR. 2020; 4(4): 138-140. doi:10.24911/ejmcr/173-1577696193


Web Style

Gunturu Lakshmi Narasimha. A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism. https://www.ejmcr.com/?mno=79931 [Access: July 11, 2020]. doi:10.24911/ejmcr/173-1577696193


AMA (American Medical Association) Style

Gunturu Lakshmi Narasimha. A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism. EJMCR. 2020; 4(4): 138-140. doi:10.24911/ejmcr/173-1577696193


Vancouver/ICMJE Style

Gunturu Lakshmi Narasimha. A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism. EJMCR. (2020), [cited July 11, 2020]; 4(4): 138-140. doi:10.24911/ejmcr/173-1577696193


Harvard Style

Gunturu Lakshmi Narasimha (2020) A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism. EJMCR, 4 (4), 138-140. doi:10.24911/ejmcr/173-1577696193


Turabian Style

Gunturu Lakshmi Narasimha. 2020. A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism. European Journal of Medical Case Reports, 4 (4), 138-140. doi:10.24911/ejmcr/173-1577696193


Chicago Style

Gunturu Lakshmi Narasimha. "A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism." European Journal of Medical Case Reports 4 (2020), 138-140. doi:10.24911/ejmcr/173-1577696193


MLA (The Modern Language Association) Style

Gunturu Lakshmi Narasimha. "A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism." European Journal of Medical Case Reports 4.4 (2020), 138-140. Print. doi:10.24911/ejmcr/173-1577696193


APA (American Psychological Association) Style

Gunturu Lakshmi Narasimha (2020) A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism. European Journal of Medical Case Reports, 4 (4), 138-140. doi:10.24911/ejmcr/173-1577696193


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