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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 amy• What other names do people use or hereditary neur
amyotrophy?
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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?• Neuralgic Amyotrophy $NA' comes about in two wa
• Hereditary Neuralgic Amyotrophy as the nameNeuralgic Amyotrophy $NA' that one will in
chromosom
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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 $7' arm o chr34 at position ;
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How are changes in &0%( 1 genrelated to health conditions?
• When &tudies involving generations o a amily with a /nhistory o HNA were conducted it was discovered thatmutations o the &0%( 1 gene were ound within the pareBecause Hereditary Neuralgic Amyotrophy is a conditionis autosomal dominant based persons who have HNA mu
have this &0%( 1 gene mutation"(he most common orm o this mutation is /nown as the&0%( 1 =>>W mutation what happens is that the amino arginine is replaced with the amino acid tryptophan atposition >> in the septin-1- protein se7uence"
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#ont!
• (he e*act way in which this mutation gives rise to Hstill not /nown researchers however theori)e thatbecause o the similarities in terms o triggers or Ha+ecting the immune system@ there may very well be
autoimmune reaction or this disorder"• But the relation o the &0%(1 gene mutations and im
unctions are still unclear and need to be utherinvestigated"
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5i/ely outcomes with and witho
treatment• (he treatment o Hereditary Neuralgic Amyotrophy$
is directed toward the speci.c symptoms that areapparent in each individual"
• (reatment may re7uire the coordinated e+orts o a t
o specialists" ost patients will need a team consiso a $pediatric' neurologist@ physiatrist@ physical therand occupational therapist"
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%hysical (herapy
• %hysical therapy or patients with brachial neuritis sbe ocused on the maintenance o ull range o motio$=O' in the shoulder and other a+ected joints"
• %assive =O $%=O' and active =O $A=O' e*er
should begin as soon as the patients pain has beenade7uately controlled"
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#onservative (reatment
Approach• :n combination with physical therapy based methods
medication is also used to treat NA" (he aim o the#onservative (reatment Approach is to combine phytherapy with medicine"
• :t should be noted that the conservative approach isthe early stages o patient care that is at the start,oo the symptoms@ the individual with HNA will use stpain /illers or pain relie"
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Non-#onservative Approach
$&urgical %rocedures'• :t should be noted that this is only done ater ailure
improve the a+ected areas or a period o more than years" (he surgical procedure will involve correctininjured nerves such that they start to unction norm
• (he surgical approach is only used in rare cases whethe condition does not show any sign o improvemennot the go to method or treating neuralgic amyotro
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=eerences
• Brachial Neuritis (reatment D anagement8 =ehabilitation %rogram@ edical :ssues,#omp&urgical :ntervention" $n"d"'" =etrieved rom http8,,emedicine"medscape"com,article,E33
• Brachial NeuritisF#ausesF&ymptomsF(reatmentF=ecoveryF%rognosis" $n"d"'" =etrieved romhttp8,,www"epainassist"com,sports-injuries,upper-bac/-and-nec/-injuries,brachial-neuritis-oneuralgic-amyotrophy
• #onservative (reatment e.nition F Bac/ %ain and Nec/ %ain edical 2lossary" $n"d"'" =etrhttp8,,www"spine-health"com,glossary,conservative-treatment
•Hereditary Neuralgic Amyotrophy - NO= $National Organi)ation or =are isorders'" $n"d=etrieved rom http8,,rarediseases"org,rare-diseases,hereditary-neuralgic-amyotrophy,
• &0%(1 - septin 1 - 2enetics Home =eerence" $n"d"'" =etrieved romhttps8,,ghr"nlm"nih"gov,gene,&0%(1
• &eptin 1 gene and hereditary neuralgic amyotrophy" $n"d"'" =etrieved romhttp8,,www"medscape"com,viewarticle,E