Machado-Joseph Disease (Spinocerebellar Ataxia Type 3)
Clinically Relevant Anatomy
Mechanism of Injury / Pathological Process
Clinical Presentation
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 <a href="http://www.physio-pedia.com/Amyotrophic_Lateral_Sclerosis_(aka_ALS_or_Lou_Gehrig’s_Disease)">amyotrophic lateral sclerolsis (ALS</a>), 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).
Outcome Measures
Management / Interventions
Differential Diagnosis
Key Evidence
Resources
Case Studies
<a href="https://www.cambridge.org/core/services/aop-cambridge-core/content/view/2D997CFBDDB29D73A6911030533DEDE0/S0317167100034983a.pdf/natural_history_of_machadojoseph_disease_an_analysis_of_138_personally_examined_cases.pdf">The natural history of Machado-Joseph disease: an analysis of 138 personally examined cases</a>
