Machado-Joseph Disease (Spinocerebellar Ataxia Type 3): Difference between revisions

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= <br> Clinically Relevant Anatomy  =
<h1> <br /> Clinically Relevant Anatomy  </h1>
 
<h1> Mechanism of Injury / Pathological Process<br />  </h1>
= Mechanism of Injury / Pathological Process<br>  =
<h1> Clinical Presentation<br />  </h1>
 
<h1> Diagnostic Procedures<br />  </h1>
= Clinical Presentation<br>  =
<p>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 &lt;a href="http://www.physio-pedia.com/Amyotrophic_Lateral_Sclerosis_(aka_ALS_or_Lou_Gehrig’s_Disease)"&gt;amyotrophic lateral sclerolsis (ALS&lt;/a&gt;), as the involvement of motor neurons causes the two conditions to present similarly (1).  
 
</p><p>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).  
= Diagnostic Procedures<br>  =
</p>
 
<h1> Outcome Measures<br />  </h1>
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 [http://www.physio-pedia.com/Amyotrophic_Lateral_Sclerosis_(aka_ALS_or_Lou_Gehrig’s_Disease) amyotrophic lateral sclerolsis (ALS]), as the involvement of motor neurons causes the two conditions to present similarly (1).  
<h1> Management / Interventions<br /> </h1>
 
<h1> Differential Diagnosis<br />  </h1>
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).  
<h1> Key Evidence<br />  </h1>
 
<h1> Resources<br />  </h1>
= Outcome Measures<br>  =
<h1> Case Studies <br />  </h1>
 
<p>&lt;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"&gt;The natural history of Machado-Joseph disease: an analysis of 138 personally examined cases&lt;/a&gt;<br />
= Management / Interventions<br> =
</p>
 
<h1> Recent Related Research <br />  </h1>
= Differential Diagnosis<br>  =
<h1> References </h1>
 
= Key Evidence<br>  =
 
= Resources<br>  =
 
= Case Studies <br>  =
 
[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]<br>
 
= Recent Related Research <br>  =
 
= References =

Revision as of 19:37, 7 May 2017



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>

Recent Related Research

References

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