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

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<h1> <br /> Clinically Relevant Anatomy  </h1>
= <br> Clinically Relevant Anatomy  =
<h1> Mechanism of Injury / Pathological Process<br />  </h1>
 
<h1> Clinical Presentation<br />  </h1>
= Mechanism of Injury / Pathological Process<br>  =
<h1> Diagnostic Procedures<br />  </h1>
 
<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).  
= Clinical Presentation<br>  =
</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).  
 
</p>
= Diagnostic Procedures<br>  =
<h1> Outcome Measures<br />  </h1>
 
<h1> Management / Interventions<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> Differential Diagnosis<br />  </h1>
 
<h1> Key Evidence<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> Resources<br />  </h1>
 
<h1> Case Studies <br />  </h1>
= Outcome Measures<br>  =
<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 />
 
</p>
= Management / Interventions<br> =
<h1> Recent Related Research <br />  </h1>
 
<h1> References </h1>
= Differential Diagnosis<br>  =
 
= Key Evidence<br>  =
 
= Resources<br>  =
 
= Case Studies <br>  =
 
[https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167100034983 The natural history of Machado-Joseph disease: an analysis of 138 personally examined cases<br>]
 
= Recent Related Research <br>  =
 
= References =

Revision as of 00:14, 8 May 2017



Clinically Relevant Anatomy[edit | edit source]

Mechanism of Injury / Pathological Process
[edit | edit source]

Clinical Presentation
[edit | edit source]

Diagnostic Procedures
[edit | edit source]

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).

Outcome Measures
[edit | edit source]

Management / Interventions
[edit | edit source]

Differential Diagnosis
[edit | edit source]

Key Evidence
[edit | edit source]

Resources
[edit | edit source]

Case Studies
[edit | edit source]

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

Recent Related Research
[edit | edit source]

References[edit | edit source]

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