A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism
Authors: Gunturu Lakshmi Narasimha
Background: MachadoJoseph 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
Authors
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
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
Gunturu Lakshmi Narasimha. A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism. https://www.ejmcr.com/?mno=79931 [Access: April 24, 2024]. doi:
10.24911/ejmcr/173-1577696193
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
Gunturu Lakshmi Narasimha. A rare type 4 phenotype of Machado-Joseph disease with Parkinsonism. EJMCR. (2020), [cited April 24, 2024]; 4(4): 138-140. doi:
10.24911/ejmcr/173-1577696193
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
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
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
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
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