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

Published: 27 June 2020| Version 1 | DOI: 10.17632/52dz2xm72m.1
Lakshmi Narasimha Gunturu


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.