Difference between revisions of "Neuromuscular pathology"

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Neuromuscular pathology (view source)

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*Congenital fibre type disproportion.
*Congenital fibre type disproportion.
*Periodic paralysis.
*Periodic paralysis.
=Groups of disorders=
==Muscular dystrophy==
===General===
*DDx: large.
A short DDx:
*Duchenne's muscular dystrophy.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/310200 http://www.ncbi.nlm.nih.gov/omim/310200]. Accessed on: 29 October 2010.</ref>
*Becker's muscular dystrophy.
*Limb-girdle muscular dystrophy.
**Lotsa different mutations, autosomal dominant and recessive variants.
*Myotonic dystrophy.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/160900 http://www.ncbi.nlm.nih.gov/omim/160900]. Accessed on: 29 October 2010.</ref><ref>URL: [http://www.ncbi.nlm.nih.gov/omim/602668 http://www.ncbi.nlm.nih.gov/omim/602668]. Accessed on: 29 October 2010.</ref>
===Microscopic===
Features:
*Endomysial fibrosis.
*Hypercontracted fibres (large muscle fibres).
Images:
*[http://path.upmc.edu/cases/case161.html Becker muscular dystrophy (upmc.edu)].
*[http://path.upmc.edu/cases/case234/micro.html Myotonic dystrophy - several images (upmc.edu)].
==Limb-girdle muscular dystrophy==
===General===
*A group of muscular dystrophies with childhood or adult onset.<ref>URL: [http://www.ncbi.nlm.nih.gov/books/NBK1408/ http://www.ncbi.nlm.nih.gov/books/NBK1408/]. Accessed on: 25 November 2010.</ref>
*Rare.
*Usually autosomal recessive.
*Treatment: none; supportive only.
===Subtypes===
*Sarcoglycanopathy.
*Calpainopahty.
*Dysferlinopathy.
Notes:
*Can be demonstrated with [[IHC]].
===DDx===
*DMD gene associated MDs (Duchenne MD, Becker MD).
*Facioscapulohumeral muscular dystrophy (FSHD).
*Emery-Dreifuss MD (EDMD).
*Congenital MD (CMD).
*Inflammatory myopathies.
==Mitochondrial disorders==
===General===
*Onset childhood to adulthood.
*Heteroplasmy - variable distribution of badness within affected individuals.
**Leads to "threshold effect".
===Microscopic===
*Trichrome most useful - find the ragged red fibres - usu. at the cell periphery.
*COX-SDH:
**Non-staining (???).
**Peripheral blue accumulation in occasional cells.
===EM===
Features:
*Crystalloid inclusions.<ref>URL: [http://moon.ouhsc.edu/kfung/jty1/neurotest/Q09-Ans.htm http://moon.ouhsc.edu/kfung/jty1/neurotest/Q09-Ans.htm]. Accessed on: 26 October 2010.</ref>
*"Ballooned" mitochondria; loss of cristae -- loss of membranous folds within mitochrondrion.
==Type 2 fibre atrophy==
===General===
DDx:
*Disuse.
*Space travel.
*Steroids.
*Others.
===Microscopic===
Features:
*Atrophy for type 2 atrophy.
Images:
*[http://commons.wikimedia.org/wiki/File:Denervation_atrophy_-_high_mag.jpg Denervation atrophy - high mag. (WC)].
*[http://commons.wikimedia.org/wiki/File:Denervation_atrophy_-_atp94_-_high_mag.jpg Type 2 fibre atrophy - ATPase pH 9.4 - high mag. (WC)].


=Specific entities=
=Specific entities=
==Amyotrophic lateral sclerosis==
==Amyotrophic lateral sclerosis==
{{Main|Amyotrophic lateral sclerosis}}
*Abbreviated ''ALS''.
===General===
===General===
*Abbreviated ''ALS''.
*Abbreviated ''ALS''.
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*Inflammation.
*Inflammation.


DDx: Inclusion body myositis.
DDx: [[Inclusion body myositis]].
 
==Muscular dystrophy==
===General===
*DDx: large.
 
A short DDx:
*Duchenne's muscular dystrophy.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/310200 http://www.ncbi.nlm.nih.gov/omim/310200]. Accessed on: 29 October 2010.</ref>
*Becker's muscular dystrophy.
*Limb-girdle muscular dystrophy.
**Lotsa different mutations, autosomal dominant and recessive variants.
*Myotonic dystrophy.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/160900 http://www.ncbi.nlm.nih.gov/omim/160900]. Accessed on: 29 October 2010.</ref><ref>URL: [http://www.ncbi.nlm.nih.gov/omim/602668 http://www.ncbi.nlm.nih.gov/omim/602668]. Accessed on: 29 October 2010.</ref>
 
===Microscopic===
Features:
*Endomysial fibrosis.
*Hypercontracted fibres (large muscle fibres).
 
Images:
*[http://path.upmc.edu/cases/case161.html Becker muscular dystrophy (upmc.edu)].
*[http://path.upmc.edu/cases/case234/micro.html Myotonic dystrophy - several images (upmc.edu)].


==Myotonic dystrophy==
==Myotonic dystrophy==
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:See ''[[Microorganisms]]''.
:See ''[[Microorganisms]]''.
Parasitic disease classically associated with consumption of uncooked pork.
Parasitic disease classically associated with consumption of uncooked pork.
=Groups of disorders=
==Limb-girdle muscular dystrophy==
===General===
*A group of muscular dystrophies with childhood or adult onset.<ref>URL: [http://www.ncbi.nlm.nih.gov/books/NBK1408/ http://www.ncbi.nlm.nih.gov/books/NBK1408/]. Accessed on: 25 November 2010.</ref>
*Rare.
*Usually autosomal recessive.
*Treatment: none; supportive only.
===Subtypes===
*Sarcoglycanopathy.
*Calpainopahty.
*Dysferlinopathy.
Notes:
*Can be demonstrated with [[IHC]].
===DDx===
*DMD gene associated MDs (Duchenne MD, Becker MD).
*Facioscapulohumeral muscular dystrophy (FSHD).
*Emery-Dreifuss MD (EDMD).
*Congenital MD (CMD).
*Inflammatory myopathies.
==Mitochondrial disorders==
===General===
*Onset childhood to adulthood.
*Heteroplasmy - variable distribution of badness within affected individuals.
**Leads to "threshold effect".
===Microscopic===
*Trichrome most useful - find the ragged red fibres - usu. at the cell periphery.
*COX-SDH:
**Non-staining (???).
**Peripheral blue accumulation in occasional cells.
===EM===
Features:
*Crystalloid inclusions.<ref>URL: [http://moon.ouhsc.edu/kfung/jty1/neurotest/Q09-Ans.htm http://moon.ouhsc.edu/kfung/jty1/neurotest/Q09-Ans.htm]. Accessed on: 26 October 2010.</ref>
*"Ballooned" mitochondria; loss of cristae -- loss of membranous folds within mitochrondrion.
==Type 2 fibre atrophy==
===General===
DDx:
*Disuse.
*Space travel.
*Steroids.
*Others.
===Microscopic===
Features:
*Atrophy for type 2 atrophy.
Images:
*[http://commons.wikimedia.org/wiki/File:Denervation_atrophy_-_high_mag.jpg Denervation atrophy - high mag. (WC)].
*[http://commons.wikimedia.org/wiki/File:Denervation_atrophy_-_atp94_-_high_mag.jpg Type 2 fibre atrophy - ATPase pH 9.4 - high mag. (WC)].


=Nerve stuff=
=Nerve stuff=
Michael
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