Neuralgic Amyotrophy 1.0

8/18/2019 Neuralgic Amyotrophy 1.0

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Neuralgic Amyotrophy

GROUP MEMBERS:


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Objective-Based Questions

Students should be able to answer:

• How do people inherit hereditary neuralgic amyotro

• How common is hereditary neuralgic amyotrophy?

•

What genes are related to hereditary neuralgic amyo• What other names do people use or hereditary neur

amyotrophy?


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What does neuralgic amyotrop

really mean?• Neuralgic amyotrophy!s name describes completely

it results in"

• Neuralgic - Amyotrophy

•

Neuralgia-sharp and paroxysmal pain along the course ofnerve.

• Amyotrophy- muscular wasting or atrophy.


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#ont!d

• Neuralgic Amyotrophy is a rare as well unusual disoo the peripheral nervous system $%N&'" (he disordecharacteri)ed by sharp and sudden onsets o e*crucpain in the upper e*tremity"

• Neuralgic Amyotrophy is also characteri)ed by itsmultiocal properties$a+ects many sites,locations' anslow recovery timeline"


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What is Hereditary Neuralgic

Amyotrophy?• NA comes about in two ways it can be idi

• Hereditary Neuralgic Amyotrophy as the nameNA that one will inherit through genes or ch


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HNA #ont!d

• Because HNA is inheritedthrough genes on speci.cchromosomes a lot is stillun/nown and still beingdiscovered about the

mechanisms and triggers"

• However it is accepted thatthe &0%( 1 2ene onchromosome 34 playscontributory role in HNA"


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Other names used or Hereditary

Neuralgic Amyotrophy5ist o 6re7uently usedNames8• 6amilial brachial ple*us neuritis

• Hereditary brachial ple*us neuropathy

• Heredoamilial neuritis with brachial ple*us predilection

• Brachial %le*us Neuritis

•&houlder 2irdle Neuropathy


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&peci.cs on the 2enetics o

Hereditary Neuralgic Amyotroph


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#ont!d

• :t is generally accepted that HNA and its characteristics are heavily impacted by themutations o the septin 1 $&0%(1' gene this gene is on #hromosome 34"

• (he &0%(1 gene provides instructions or ma/ing a protein /nown as septin-1"

• (his belongs to a group o proteins /nown as septins which are involved in cyto/inesis"

(he &0%(1 gene is locthe long $7' arm o chr34 at position ;


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How are changes in &0%( 1 genrelated to health conditions?

• When &tudies involving generations o a amily with a /nhistory o HNA were conducted it was discovered thatmutations o the &0%( 1 gene were ound within the pareBecause Hereditary Neuralgic Amyotrophy is a conditionis autosomal dominant based persons who have HNA mu

have this &0%( 1 gene mutation"(he most common orm o this mutation is /nown as the&0%( 1 =>>W mutation what happens is that the amino arginine is replaced with the amino acid tryptophan atposition >> in the septin-1- protein se7uence"


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#ont!

• (he e*act way in which this mutation gives rise to Hstill not /nown researchers however theori)e thatbecause o the similarities in terms o triggers or Ha+ecting the immune system@ there may very well be

autoimmune reaction or this disorder"• But the relation o the &0%(1 gene mutations and im

unctions are still unclear and need to be utherinvestigated"


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5i/ely outcomes with and witho

treatment

Neuralgic Amyotrophy 1.0

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