Machado-Joseph Disease (Spinocerebellar Ataxia Type 3)

Diagnostic Procedures

Genetic testing revealing CAG repeats are indicative of MJD diagnosis (1). The number of these repeats correlates with severity of the disease; increasing number of repeats corresponds with increased reflexes and mortality rate, and vise versa with decreased number of repeats (2). Type 3 MJD is specifically characterized by fasciculations (3). Health care practitioners must be cautious to rule out amyotrophic lateral sclerolsis (ALS), as the involvement of motor neurons causes the two conditions to present similarly (1).

Upon autopsy, the following findings may be present; encephalon of decreased mass, pale-coloured substantia nigra, atrophied cerebellum, medulla oblongata and pons, as well as a decreased number of neuron bodies in the dentate nucleus, substantia nigra and anterior horn of the spinal cord (1).

Case Studies

The natural history of Machado-Joseph disease: an analysis of 138 personally examined cases