Case Report

Volume: 4 | Issue: 4 | Published: Apr 04, 2020 | Pages: 138 - 140 | DOI: 10.24911/ejmcr/173-1577696193

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


Authors: Gunturu Lakshmi Narasimha


Article Info

Authors

Gunturu Lakshmi Narasimha

Pharm. D Student, Department of Pharmacy Practice, Annamacharya College of Pharmacy, Rajampeta, Kadapa, India

Publication History

Received: January 02, 2020

Revised: March 09, 2020

Accepted: March 24, 2020

Published: April 04, 2020


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, green


Pubmed Style

Gunturu Lakshmi Narasimha. A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism. EJMCR. 2020; 04 (April 2020): 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://ejmcr.com/articles/1441 [Access: December 25, 2024]. 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; 04 (April 2020): 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 December 25, 2024]; 04 (April 2020): 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, 04 (April 2020): 138-140. doi:10.24911/ejmcr/173-1577696193

Chicago Style

Gunturu Lakshmi Narasimha. "A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism." 04 (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." 04.April 2020 (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. , 04 (April 2020), 138-140. doi:10.24911/ejmcr/173-1577696193