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


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

Publication History

Received: January 02, 2020

Accepted: March 24, 2020

Published: April 04, 2020


Authors

Gunturu Lakshmi Narasimha

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