In this Issue:

M it ochondr ia l D ise a se a nd D ysa ut onom ia : Ex plor ing t he Lit e r a t ur e Re se a r ch in Re vie w W e N e e d Your H e lp! D id You Know Ca lling a ll Yout h Glossa r y Cont r ibut or s 1

Mitochondrial Disease and Dysautonomia: Exploring the Literature

As w e ha ve com e t o discove r , dysa ut onom ia is a com ple x syndr om e t ha t e ffe ct s a nd is a ffe ct e d by so m a ny va r ia ble s. This m ont hs issue w ill e x plor e , in de pt h, t he com plica t e d a r e a of M it ochondr ia l D ise a se . The t erm Mit ochondrial Cyt opat hies refers t o hum an illness result ing from prim ary and secondary m it ochondrial dysfunct ion 1 . Mit ochondria are specialized com ponent s present in alm ost every cell in t he body 2 . They are responsible for energy product ion, as well as ot her funct ions t ied t o t he specialized dut ies of t he different cells in which t hey reside 3 . Mit ochondria are t he only cellular organelles known t o have t heir own DNA ( m t DNA) dist inct from nuclear DNA. Hum an illness result ing from m it ochondrial cyt opat hy som et im es present s wit h sym pt om s of dysa ut onom ia . The following art icle provides

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Dysaut onom ia News was creat ed t o inform and educat e. The cont ent should not be used as a subst it ut e for professional m edical advice, diagnosis or t reat m ent . Readers are encouraged t o confirm all inform at ion wit h ot her sources and a physician. Please keep in m ind t hat research is cont inually evolving, and fut ure discoveries m ay change or disprove som e current ly held beliefs.

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Dysautonomia News general inform at ion on m it ochondrial cyt opat hies and also explores several areas where m it ochondrial disease present s wit h sym pt om s associat ed wit h a ut onom ic dysfunct ion. CATEGORI ES There are t hree general cat egories of im paired m it ochondrial funct ion: 1. nut rit ional or disease relat ed 2. chem ical induced 3. genet ic4 . The genet ic aspect s are part icularly im port ant . We inherit our m it ochondria from our m ot hers; t herefore genet ic m it ochondrial m ut at ions are passed from m ot her t o child. Fam ily m em bers wit h t he sam e m it ochondrial DNA m ut at ion could be affect ed in very different ways. This is t rue not only in t erm s of disease severit y, but also regarding sym pt om s, organ syst em s involved and t he age of onset 5 . SYM PTOM S Like dysaut onom ia, m it ochondrial disorders can present at any age and affect organs t hroughout t he body producing a wide array of sym pt om s.

Spring 2003

Mitochondrion A 2001 Cleveland Clinic Journal of Medicine publicat ion describes t he aut onom ic as well as ot her clinical feat ures t hat m ay present wit h m it ochondrial cyt opat hies as follows6 : Muscle weakness and/ or cram ping ( m ay cause drooping of t he upper eyelids and can affect eye m ovem ent ) Mildly elevat ed levels of t he cr e a t ine k ina se M M fr a ct ion Poor m ot ilit y of t he esophagus, st om ach and int est ines Failure t o gain weight , short st at ure Developm ent al delays, m ent al ret ardat ion, aut ism and/ or neuropsychiat ric dist urbances Migraine, dem ent ia, seizures and st roke- like episodes

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Dysautonomia News Cardiac conduct ion defect s and ca r diom yopa t hy Failure of norm al glucose hom eost asis by t he liver Re t init is pigm e nt osa 7 and opt ic a t r ophy Hearing loss Loss of am ino acids and e le ct r olyt e s in urine Re na l t ubula r a cidosis and Fa nconi syndr om e ( usually in children) Diabet es, hypoglycem ia Air hunge r , respirat ory problem s Chronic fat igue syndrom e N e ur opa t hy , which can cause dist al weakness, loss of deep t endon reflexes, pain, or aut onom ic feat ures such as t em perat ure inst abilit y, inappropriat e or lack of sweat ing, ort host at ic hypot e nsion and bladder dysfunct ion. Aut onom ic neuropat hy can also cont ribut e t o gast roint est inal dysm ot ilit y.

Spring 2003 gast roint est inal dysm ot ilit y, present ing eit her as difficult y swallowing leading t o feeding difficult ies and failure t o t hrive, or chronic diarrhea and const ipat ion. Cent ral a pne a was com m on. I nt racardiac conduct ion defect s m anifest ing as W olff- Pa r k inson W hit e syndr om e , ve nt r icula r t a chyca r dia , or supr a ve nt r icula r t a chyca r dia were present in four children. Alt ernat ing unequal pupil size was seen in t wo of t he pat ient s. N e ur oge nic bla dde r and int est inal pse udo- obst r uct ion were present in t hree siblings, one of whom also had dysregulat ion of blood pressure and heart rat e during st ress. The aut hors of t his st udy st at e t hat neurological present at ions are he t e r oge ne ous in m it ochondrial disorders involving t he ce nt r a l , pe r iphe r a l and aut onom ic nervous syst em s. They conclude t hat a m it ochondrial evaluat ion is warrant ed in pat ient s wit h com plex neurologic m anifest at ions or single sym pt om s plus ot her syst em involvem ent wit h no ot her obvious cause 8 . A 2001 publicat ion also discusses m it ochondrial disease present ing wit h feat ures associat ed wit h dysaut onom ia 9 . This publicat ion out lines t he clinical sym pt om s associat ed wit h m it ochondrial

Sym pt om s of aut onom ic dysfunct ion have been report ed as a feat ure of m it ochondrial disease in a num ber of ot her publicat ions as well. A 1999 st udy of 42 children, 37 of which had confirm ed m it ochondrial disorders, showed t hat t he aut onom ic nervous syst em was involved in 43% of pat ient s8 . The m ost frequent aut onom ic m anifest at ion was

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Dysautonomia News encephalom yopat hy wit h lact ic acidosis and st roke- like episodes ( MELAS) , which is t he m ost com m on m at ernally inherit ed m it ochondrial disease. Like dysaut onom ia pat ient s, MELAS pat ient s oft en present wit h exercise int olerance and m igraine- like headaches. Ot her clinical feat ures of MELAS include recurrent vom it ing, lim b weakness, short st at ure, st roke ( usually before age 40) and e nce pha lopa t hy charact erized by seizures, dem ent ia or bot h 9 . The 1996 publicat ion Mit ochondrial Encephalom yopat hies Present ing wit h Feat ures of Aut onom ic and Visceral Dysfunct ion reviews t he cases of t hree children wit h m it ochondrial encephalom yopat hy present ing wit h aut onom ic dysfunct ion. Aut onom ic dysfunct ion included gast roint est inal dysm ot ilit y, apnea, cardiac arrhyt hm ias, decreased secret ion of t ears, supersensit ivit y t o t he va sodila t or called m et acholine, alt ered sweat ing, and post ural hypot ension 14 . The invest igat ors in t his st udy conclude t hat t hese pat ient s illust rat e t hat in som e m it ochondrial encephalom yopat hies aut onom ic feat ures m ay be prom inent and can m im ic t he clinical feat ures associat ed wit h heredit ary sensory and aut onom ic neuropat hies.

Spring 2003 A 1995 publicat ion reviews a case of m it ochondrial encephalom yopat hy present ing wit h feat ures of aut onom ic dysfunct ion as well 15 . The invest igat ors report on a 28year- old m an wit h m it ochondrial encephalom yopat hy wit h peripheral neuropat hy and aut onom ic sym pt om s. The physicians hypot hesized t hat aut onom ic sym pt om s in t his case were due t o a x ona l degenerat ion t hat included unm ye lina t e d fibers. RELATI ON SH I P W I TH CH RON I C FATI GUE SYN D ROM E Ot her publicat ions explore t he relat ionship bet ween m it ochondrial dysfunct ion and sym pt om s associat ed wit h dysaut onom ia as well. The book t it led Mit ochondria in Pat hogenesis cont ains a chapt er ent it led Mit ochondrial Dysfunct ion in Chronic Fat igue Syndrom e , aut hored by Brad Chazot t e. Approxim at ely 40% of pat ient s wit h chronic fat igue syndrom e have ort host at ic int olerance, a form of dysaut onom ia 10 . Chazot t e present s a st udy invest igat ing m it ochondrial dysfunct ion in 34 chronic fat igue syndrom e ( CFS) pat ient s11 . The result s of t his st udy show im paired m it ochondrial ATPm aking abilit y in CFS pat ient s

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Dysautonomia News cells. Chazot t e concludes, it is no surprise, t herefore, t hat t he m aj or CFS com plaint s in addit ion t o general fat igue are t ypically m uscle fat igabilit y ( oft en perceived as m uscle weakness) , cognit ive dysfunct ion and sleep abnorm alit ies. Of part icular int erest are report s of t he beneficial effect s of carnit ine, which is involved in m it ochondrial B- oxidat ion of fat t y acidsan im port ant source of m uscle energy. Ubiquinone ( CoQ10) , an elect ron t ransport chain com ponent in t he m it ochondrial inner m em brane, has also been report ed t o help CFS pat ient s11 . The invest igat ors of t he st udy st at e it should be clear t hat our dat a do not prove t hat m it ochondrial dysfunct ion causes CFS. Rat her, we show t hat m it ochondrial dysfunct ion is involved in CFS. Whet her t he cause of t his dysfunct ion is som e im m une- or cell- signaling anom aly, perhaps due t o a genet ic predisposit ion t riggered by a viral or bact erial infect ion, rem ains t o be seen 11 . The degree t o which t his inform at ion m ay have im pact is not yet clear. Dr. Bruce Cohen, a lead invest igat or in m it ochondrial disease, believes evaluat ing every person who has chronic fat igue syndrom e for m it ochondrial cyt opat hy

Spring 2003 would not be pract ical. He believes it probably should be reserved for pat ient s who have had an exhaust ive but uninform at ive invest igat ion of t heir illness6 . RELATI ON SH I P TO CYCLI C VOM I TI N G SYN D ROM E Dr. Richard Boles, a m et abolic genet icist at Childrens Hospit al, Los Angeles is also int erest ed in t he associat ion bet ween m it ochondrial disease and sym pt om s of dysaut onom ia. His 2001 publicat ion Cyclic Vom it ing in Mit ochondrial Disease engages t he relat ionship of cyclic vom it ing, m it ochondrial disease and dysaut onom ia 12 . Boles discusses t he cases of 15 children wit h known m it ochondrial disease and 50 children wit h cyclic vom it ing and addit ional neurom uscular problem s ( a group at risk for possible m it ochondrial disease) . Boles report s m any of t hese children have a specific pat t ern of addit ional clinical and laborat ory findings including GI dysm ot ilit y ( reflux, delayed gast ric em pt ying, const ipat ion) , dysaut onom ia ( unexplained fevers, high heart rat e, et c.) , m uscle weakness, chronic fat igue, seizures and pain ( head, abdom en and/ or ext rem it ies) . The lat t er, referred t o as m uscle cram ps, is occasionally associat ed wit h

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Dysautonomia News swelling and skin discolorat ion in a m anner suggest ive of ne ur o- va scula r dyst r ophy . The childrens sym pt om s t ended t o be episodic and variable, and no single child suffered from all of t he report ed problem s. I n m ost ( but not all) cases, siblings, t he m ot her and occasionally ot her m at ernal relat ives had a hist ory of int erm it t ent and usually m ild disease m anifest at ions, which included varying sym pt om s such as m igraine, seizures, dysaut onom ia, depression, hypot hyroidism , hypoglycem ia, gut dysm ot ilit y ( reflux disease, severe const ipat ion, et c.) exercise int olerance, m uscle pain and pe r iphe r a l ne ur opa t hy 5 . A few of t he childrens fam ilies had a hist ory of Sudde n I nfa nt D e a t h Syndr om e ( SI D S) . Research has shown t hat SI DS m ay be relat ed t o aut onom ic dysfunct ion 13 . The Unit ed Mit ochondrial Disease Foundat ions Ask t he Mit o Doc web page ( www.um df.org) sheds furt her light on t he occurrence of dysaut onom ia wit h m it ochondrial disease. St at em ent s m ade by physicians on t he UMDFs web page include t he following: I n m y personal experience, dysaut onom ia is not rare

Spring 2003 in children and adult s wit h probable m it ochondria- relat ed disease, especially t hose wit h m at ernal inherit ance 5 . Richard Boles, MD Alt hough no scient ific st udy has been published on t he m at t er of t em perat ure int olerance in people wit h m it ochondrial cyt opat hies, it is a com m on feat ure of m any affect ed adult s and children 16 . Bruce H. Cohen, MD I n m y personal experience, localized swelling and/ or pain are com m on in children wit h m it ochondrial disease. Changes in color and/ or t em perat ure of t he skin can also occur. Usually t he arm s and/ or legs are involved, but t he face and/ or t orso ( including t he chest ) can also be affect ed. Like ot her m it o sym pt om s, t he problem usually com es and goes, oft en t riggered by st ress ( fast ing, fever, illness, exercise, sunburn, et c.) . I believe t hese changes are m anifest at ions of dysaut onom ia, as t hey usually occur in individuals wit h at least one ot her sign of dysaut onom ia 5 . Richard Boles, MD

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Dysautonomia News M AKI N G TH E D I AGN OSI S Diagnosis of m it ochondrial disease m ay include several t est s. The t wo m aj or biochem ical feat ures in m ost m it ochondrial diseases are la ct ic a cidosis and r e spir a t or y cha in deficiency 9 . However, one st udy showed t hat serum lact ic acid levels were norm al in a num ber of children wit h bot h m it ochondrial disease and dysaut onom ia 8 . The gold st andard for diagnosis of m it ochondrial disease is a pat hologic point m ut at ion t hat can be ident ified in whit e blood cells6 . However, a m ut at ion cannot be found in m any pat ient s, and t herefore diagnosis m ay require visual and biochem ical exam inat ion of m uscle t issue. From t he m or phologica l st andpoint , pat ient s wit h m it ochondrial diseases oft en have r a gge dr e d fibe r s in t he m uscle biopsy 17 . Clearly, lit erat ure shows t hat som e pat ient s present ing wit h sym pt om s of dysaut onom ia m ay have m it ochondrial disease. Dysaut onom ia pat ient s who suspect t hey have m it ochondrial disease should seek out a physician who specializes in t hese disorders. The Unit ed Mit ochondrial Disease Foundat ion ( www.um df.org) has inform at ion on physicians t hat

Spring 2003 specialize in ident ifying m it ochondrial cyt opat hy. There is current ly no cure for m it ochondrial disease. However, t he benefit s of a proper diagnosis cannot be underst at ed. They include genet ic counseling and a variet y of t reat m ent s, som e of which m ay be as sim ple as vit am ins and cofact ors. Great st rides are being m ade in t he underst anding of m it ochondrial disease. The following are a few resources available t o t hose who want t o learn m ore about m it ochondrial cyt opat hies: The Unit ed Mit ochondrial Disease Foundat ion prom ot es research for cures and t reat m ent s of m it ochondrial disorders and provides support t o affect ed individuals and fam ilies. Visit t heir web sit e at : www.um df.org The publicat ion Mit ochondrial Cyt opat hy in Adult s: What we Know so Far is available online at : ht t p: / / www.ccj m .org/ pdffi les/ COHEN701.PDF NI NDS Mit ochondrial Myopat hies I nform at ion Page: ht t p: / / www.ninds.nih.gov/ healt h_and_m edical/ disor ders/ m it ochon_doc.ht m

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Dysautonomia News Mit ochondrial Subst ruct ure: ht t p: / / cellbio.ut m b.edu/ ce llbio/ m it ochondria_1.ht m # Subst ruct ure The Mit ochondrial Life cycle: How do m it ochondria replicat e?? ht t p: / / cellbio.ut m b.edu/ ce llbio/ m it och2.ht m Mit ochondrial Disorders: ht t p: / / www.neuro.wust l.e du/ neurom uscular/ m it osy n.ht m l Cyclic Vom it ing Syndrom e Associat ion: ht t p: / / www.cvsaonline.org The book Mit ochondrial Disorders in Neurology 2 by Ant hony H. V. Schapira and S. DiMauro is geared t oward m edical professionals. Have your m edical dict ionary ready for t his one I t is a 2002 revised edit ion published by Bost on: But t erwort hHeinem ann, I SBN: 0750672889 The book Mit ochondria in Pat hogenesis edit ed by John J. Lem ast ers and Anna- Liisa Niem inen is writ t en for t he m edical professional. I t was published in 2001 by Kluwer Academ ic/ Plenum Publishers, New York, I SBN 0306464330

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Research in Review
The Dysaut onom ia I nform at ion Net works Research in Review colum n present s research abst ract s from MEDLI NE followed by a review of t he st udy in laym ens t erm s. Opinions expressed in research reviews are t hose of each individual aut hor and are not necessarily t hose of all affiliat es of t he Dysaut onom ia I nform at ion Net work. Pat ient s are encouraged t o read each publicat ion and m ake t heir own int erpret at ion. Full t ext art icles can be purchased at Loansom e Doc Ordering Syst em : ht t p: / / www.nlm .nih.gov/ loanso m edoc/ loansom e_hom e.ht m l I som e t r ic Ar m Count e r Pr e ssur e M a ne uve r s t o Abor t I m pe nding Va sova ga l Syncope . Brignole M, Croci F, Menozzi C, Solano A, Donat eo P, Oddone D, Puggioni E, Lolli G. Journal of t he Am erican College of Cardiology . 2002 Dec 4; 40( 11) : 2053- 9. PMI D: 12475469 OBJECTI VES: We hypot hesized t hat isom et ric arm exercises were able t o increase blood pressure ( BP) during t he phase

Re fe r e nce s - see page 16

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Dysautonomia News of im pending va sova ga l syncope and allow t he pat ient t o avoid losing consciousness. BACKGROUND: Hypot ension is always present during t he prodrom al phase of vasovagal syncope. METHODS: We evaluat ed t he effect of handgrip ( HG) and arm - t ensing in 19 pat ient s affect ed by t ilt - induced vasovagal syncope. The st udy consist ed of an acut e singleblind, placebo- cont rolled, random ized, cross- over t ilt - t able efficacy st udy and a clinical follow- up feasibilit y st udy. RESULTS: I n t he acut e t ilt st udy, HG was adm inist ered for 2 m in, st art ing at t he t im e of onset of sym pt om s of im pending syncope. I n t he act ive arm , HG caused an increase in syst olic blood pressure ( SBP) from 92 + / - 10 m m Hg t o 105 + / - 38 m m Hg, whereas in t he placebo arm SBP decreased from 91 + / - 11 m m Hg t o 73 + / - 21 m m Hg ( p = 0.008) . Heart rat e behavior was sim ilar in t he t wo arm s. I n t he act ive arm , 63% of pat ient s becam e asym pt om at ic, versus 11% in t he cont rol arm ( p = 0.02) ; conversely, only 5% of pat ient s developed syncope, versus 47% in t he cont rol arm ( p = 0.01) . The pat ient s were t rained t o self- adm inist er arm t ensing t reat m ent as soon as sym pt om s of im pending syncope occurred. During 9 + / 3 m ont hs of follow- up, t he t reat m ent was act ually perform ed in 95/ 97 episodes of

Spring 2003 im pending syncope ( 98% ) and was successful in 94/ 95 ( 99% ) . No pat ient s suffered inj ury or ot her adverse m orbidit y relat ed t o t he relapses. CONCLUSI ONS: I som et ric arm cont ract ion is able t o abort im pending vasovagal syncope by increasing syst em ic BP. Arm count erpressure m aneuvers can be proposed as a new, feasible, safe, and well accept ed first - line t reat m ent for vasovagal syncope. *** Re vie w
by Michelle Sawicki

This st udy present s a prom ising new count er- m aneuver t hat m ay abat e im pending syncope. Pat ient s were t rained t o t ense t heir arm s t o t he m axim um t olerat ed isom et ric cont ract ion by gripping one hand wit h t he ot her and pushing away t he t wo arm s. This arm - t ensing m aneuver has been shown t o increase syst olic blood pressure. Pat ient s were discharged wit h t he recom m endat ion t o selfadm inist er t he arm - t ensing m aneuver as soon as t hey felt like t hey were going t o faint . Follow- up wit h pat ient s showed t hat t hey were able t o perform t he arm - t ensing m aneuver in 98% of cases and t o relieve sym pt om s in 99% of t hese cases. The aut hors do adm it t hat m ost of t he pat ient s

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Dysautonomia News episodes of im pending syncope would have resolved spont aneously wit hout leading t o faint ing, even in t he absence of arm - t ensing t reat m ent . The aut hors conclude t hat arm t ensing will definit ely abort t he vasovagal react ion in som e cases, while in ot hers it will give t he pat ient enough t im e t o init iat e ot her m aneuvers t o prevent faint ing, such as lying down. I t is im port ant t o not e t hat arm - t ensing is not a cure for vasovagal syncope. Pat ient s will st ill suffer sym pt om s associat ed wit h t his disorder, and it isnt unt il sym pt om s of im pending syncope t hat selfadm inist ered arm - t ensing exercises m ay ward off a faint . I t is also im port ant t o not e t hat t his st udy included pat ient s wit h a hist ory of one or m ore faint ing episodes wit h prodrom al sym pt om s. Research has report ed t hat approxim at ely one t hird of pat ient s do not experience sym pt om s suggest ive of im pending syncope 1 .
Pat ient s should not t ry any new t reat m ent s wit hout first obt aining a p hysicians approval.

Spring 2003

We Need Your help!

You can cont ribut e t o t he Dysaut onom ia I nform at ion Net work ( DI NET) in t he following ways: Sha r e your e x pe r ie nce s in The Pa t ie nt s Voice ! The Pat ient s Voice is a newslet t er colum n where pat ient s can express t hem selves and writ e about experiences relat ing t o dysaut onom ia - bot h posit ive and negat ive. I t is a place t o share m edical experiences, suggest ions, short st ories and poet ry, et c. Send cont ribut ions t o: DI NET.org@com cast .net We look forward t o hearing from you! H e lp Build Our W or ldw ide Physicia n Finde r ! I f you know of physicians t hat have a special int erest in any t ype of dysaut onom ia, please subm it t heir cont act inform at ion t o us at : ht t p: / / www.pot splace.com / phys ician_finder.ht m Or writ e t o: Dysaut onom ia I nform at ion Net work P.O. Box 55 Brooklyn, MI 49230 Unit ed St at es

Re fe r e nce
1. Alboni, P., Brignole, M., Menozzi, C., Raviele, A., Del Rosso, A., Dinelli, M., Solano, A., Bot t oni, N. ( 2001) . Diagnost ic value of hist ory in pat ient s wit h syncope wit h or wit hout heart disease. Journal of t he Am erican College of Cardiology, 37 ( 7) , 1921- 1928.

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Dysautonomia News Re se a r ch Do you like t o research and know how t o use PubMed? I f t he answer is yes, DI NET could use your help! Please em ail DI NET.org@com cast .net for m ore inform at ion. Thank you!

Spring 2003 Dysaut onom ia Yout h Net work of Am erica ( DYNA) is a 501 ( c) ( 3) non- profit organizat ion dedicat ed t o serving t hese individuals. DYNA provides m em bers wit h a posit ive support net work and st rives t o height en awareness of dysaut onom ia condit ions wit hin t he pediat ric and adolescent m edical com m unit y. DYNA publishes a heart - warm ing and inform at ive newslet t er t hat is m ailed t o m any physicians, hospit als, and privat e individuals across t he nat ion. One of t he favorit e support program s for DYNA yout h m em bers is t he Com put er Connect ions Club. This club put s yout h m em bers in t ouch wit h each ot her over t he I nt ernet in a secure and privat e m anner. DYNA believes in em powering yout h m em bers and encourages t hem t o becom e involved in t heir own cause. DYNA does not charge m em bership fees. " A Ray of Hope" For m ore inform at ion visit our websit e at : www.dynakids.org Dysaut onom ia Yout h Net work of Am erica, I nc. 1301 Greengat e Court Waldorf, MD 20601 301- 705- 6995

Did You Know

Many public libraries have int erloan program s t hat can borrow books for you from ot her libraries

Calling all Youth

DYNA is here to help you!

W ha t is D YN A? Dysaut onom ia Yout h Net work of Am erica, I nc. Young people wit h t he various dysaut onom ia condit ions m ay experience sudden isolat ion from t heir peers due t o t he im pact of t heir sym pt om s. They oft en m ust m ake sudden life st yle changes in t he prim e of t heir adolescence. The

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Dysautonomia News

Spring 2003 m uscle and brain. Norm ally, very lit t le CK is found circulat ing in t he blood. Elevat ed levels indicat e dam age t o eit her m uscle or brain; possibly from a m yocardial infarct ion ( heart at t ack) , m uscle disease, or st roke. Definit ion from :

Glossary
Air H unge r : a pat t ern of deep and rapid respirat ion, seen part icularly in m et abolic acidosis. Also called Kussm auls respirat ion and Kussm aul- Kien respirat ion. Definit ion from :
ht t p: / / www.m ercksource.com Powered by Dorlands I llust rat ed Medical Dict ionary

ht t p: / / www.healt hat oz.com / healt hat oz/ At oz/ enc y/ creat ine_kinase_t est .ht m l

Apne a : Tem porary absence or cessat ion of breat hing. Definit ion

from : ht t p: / / www.bart leby.com The Am erican Herit age Dict ionary of t he English Language: Fourt h Edit ion. 2000.

Aut onom ic: The part of t he vert ebrat e nervous syst em t hat regulat es involunt ary act ion, as of t he int est ines, heart , and glands, and t hat is divided int o t he sym pat het ic nervous syst em and t he parasym pat het ic nervous syst em .
ht t p: / / www.bart leby.com The Am erican Herit age Dict ionary of t he English Language: Fourt h Edit ion. 2000.

Definit ion from : ht t p: / / www.m ercksource.com Powered by Dorlands I llust rat ed Medical Dict ionary

Ca r diom yopa t hy : a general diagnost ic t erm designat ing prim ary noninflam m at ory disease of t he heart m uscle, oft en of obscure or unknown et iology and not t he result of ischem ic, hypert ensive, congenit al, valvular, or pericardial disease. I t is usually subdivided int o dilat ed, hypert rophic, and rest rict ive c.

Ax on: A long fiber of a nerve cell ( a neuron) t hat act s som ewhat like a fiber- opt ic cable carrying out going ( efferent ) m essages. Definit ion from :
www.m edt erm s.com MedicineNet , I nc.

Definit ion from : ht t p: / / www.m ercksource.com Powered by Dorlands I llust rat ed Medical Dict ionary

D ysa ut onom ia : m alfunct ion of t he aut onom ic nervous syst em .

Ce nt r a l N e r vous Syst e m : t he port ion of t he vert ebrat e nervous syst em consist ing of t he brain and spinal cord. Definit ion
from : ht t p: / / www.bart leby.com The Am erican Herit age Dict ionary of t he English Language: Fourt h Edit ion. 2000.

Cr e a t ine Kina se : an enzym e ( a t ype of prot ein) found in

D ysm ot ilit y ( syndr om e ) : A vague, descript ive t erm used t o describe diseases of t he m uscles of t he gast roint est inal t ract ( esophagus, st om ach, sm all and large int est ines) in which t he m uscles do not work norm ally ( hence t he t erm dysm ot ilit y) . Ot her t erm s t hat are som et im es used for dysm ot ilit y problem s are gast roparesis when t he st om ach is involved, and chronic int est inal pseudo- obst ruct ion when t he int est ines and st om ach are involved. Definit ion

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Dysautonomia News
from : ht t p: / / www.m ed.m iam i.edu/ pat ient s/ glossary/ ar t .asp?art iclekey= 1898

Spring 2003
from : www.m ercksource.com Powered by Dorlands I llust rat ed Medical Dict ionary

Ele ct r olyt e s: Physiology Any of various ions, such as sodium , pot assium , or chloride, required by cells t o regulat e t he elect ric charge and flow of wat er m olecules across t he cell m em brane. Definit ion from :
ht t p: / / www.bart leby.com The Am erican Herit age Dict ionary of t he English Language: Fourt h Edit ion. 2000.

H ypot e nsion: abnorm ally low blood pressure; seen in shock but not necessarily indicat ive of it . Definit ion from : www.m ercksource.com
Powered by Dorlands I llust rat ed Medical Dict ionary

La ct ic Acidosis: a condit ion charact erized by t he accum ulat ion of lact ic acid in bodily t issues. Definit ion from :

Definit ion from : ht t p: / / geoparent .com / dict ionary/ Det ailed/ 103.ht m

Ence pha lopa t hy: A general t erm describing brain dysfunct ion. Exam ples include encephalit is, m eningit is, seizures and head t raum a.

ht t p: / / www.fast healt h.com / dict ionary/ l/ lact ic_ac idosis.php Published under license wit h Merriam Webst er, I ncorporat ed. 1997- 2000.

Fa nconis Syndr om e : a set of kidney m alfunct ions brought about by a variet y of seem ingly unrelat ed disorders. Kidney m alfunct ion leads t o excessive urine product ion and excessive t hirst , result ing in deficit s of wat er, calcium , pot assium , m agnesium , and ot her subst ances in t he body. I t oft en leads t o bone disease and st unt ed growt h. Definit ion from :

M or phologica l ( m or phology) : 1 a . The branch of biology t hat deals wit h t he form and st ruct ure of organism s wit hout considerat ion of funct ion. b. The form and st ruct ure of an organism or one of it s part s: t he m orphology of a cell; t he m orphology of vert ebrat es. 2 . Linguist ics The st udy of t he st ruct ure and form of words in language or a language, including inflect ion, derivat ion, and t he form at ion of com pounds. Definit ion from :
ht t p: / / www.bart leby.com The Am erican Herit age Dict ionary of t he English Language: Fourt h Edit ion. 2000.

ht t p: / / www.healt hat oz.com / healt hat oz/ At oz/ enc y/ fanconis_syndrom e.ht m l

H e t e r oge ne ous: consist ing of or com posed of dissim ilar elem ent s or ingredient s; not having a uniform qualit y t hroughout . 2. in genet ics, t he t erm denot es a t rait t hat can be produced by different genes or com binat ions of genes. Definit ion

N e ur opa t hy: A disease or abnorm alit y of t he nervous syst em . Definit ion from :

ht t p: / / www.bart leby.com The Am erican Herit age Dict ionary of t he English Language: Fourt h Edit ion. 2000.

N e ur oge nic Bla dde r : a urinary problem in which t here is abnorm al em pt ying of t he bladder wit h subsequent

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Dysautonomia News ret ent ion or incont inence of urine. Depending on t he t ype of nervous dam age, t he bladder m ay em pt y spont aneously ( incont inence) or m ay not em pt y at all ( ret ent ion wit h overflow leakage) . Definit ion from :

Spring 2003 shoot ing pain, t hrobbing, aching, and " feels like frost bit e" or " walking on a bed of coals."

Definit ion from : ht t p: / / www.aegis.com / fact sht s/ net work/ sim ple/ neurop.ht m l

MEDLI NEplus, ht t p: / / www.nlm .nih.gov/ m edlineplus/ ency/ art icl e/ 000754.ht m

N e ur ova scula r D yst r ophy: Also known as reflex sym pat het ic dyst rophy ( RSD) , it is a clinical syndrom e of variable course and unknown cause charact erized by pain, swelling, and vasom ot or dysfunct ion of an ext rem it y. Definit ion from :

ht t p: / / www.em edicine.com / m ed/ bynam e/ reflexsym pat het ic- dyst rophy.ht m

Pse udo- obst r uct ion: I nt est inal pseudo- obst ruct ion ( false blockage) is a condit ion t hat causes sym pt om s like t hose of a bowel obst ruct ion ( blockage) . But when t he int est ines are exam ined, no obst ruct ion is found. The sym pt om s of int est inal pseudo- obst ruct ion are caused by a problem in how t he m uscles and nerves in t he int est ines work. Definit ion from
Healt hlink Medical college of Wisconsin ht t p: / / healt hlink.m cw.edu/ art icle/ 930605705.ht ml

AdvanceRX.com , Building Bet t er Healt h ht t p: / / www.buildingbet t erhealt h.com / t opic/ t opic 100587231

Opt ic At r ophy : dam age t o t he opt ic nerve result ing in a degenerat ion or dest ruct ion of t he opt ic nerve. Definit ion from :

Pe r iphe r a l N e r vous Syst e m : The part of t he vert ebrat e nervous syst em const it ut ing t he nerves out side t he cent ral nervous syst em and including t he cranial nerves, spinal nerves, and sym pat het ic and parasym pat het ic nervous syst em s. Definit ion from :
ht t p: / / www.bart leby.com The Am erican Herit age Dict ionary of t he English Language: Fourt h Edit ion. 2000.

( 1997) . Overview: The spect rum of m it ochondrial disease. I n K. Weber ( Ed.) , Mit ochondrial and Met abolic Disorders ( p. 20) . Oradell, NJ: PSY- ED Corporat ion.

Ra gge d- r e d Fibe r s: A pat hological finding in which m uscle fibers appear grossly ragged. The periphery of t he fibers st ain red hist ochem ically because t here are t oo m any m it ochondria, som e wit h abnorm al st ruct ure, clust ered around t heir edges. Naviaux, R. K.

Pe r iphe r a l N e ur opa t hy: A condit ion caused by dam age t o t he nerves in t he peripheral nervous syst em . Sym pt om s can be described as burning,

Nat ional Kidney and Urologic Diseases I nform at ion Clearinghouse ht t p: / / www.niddk.nih.gov/ healt h/ kidney/ pubs/ rt a/ rt a.ht m

Re na l Tubula r Acidosis ( RTA) : a disease t hat occurs when t he kidneys fail t o excret e acids int o t he urine, which causes a persons blood t o rem ain t oo acidic. Definit ion from :

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Dysautonomia News Re spir a t or y Cha in: t he m et abolic pat hway along which elect ron t ransport occurs in cellular respirat ion: also : t he series of respirat ory enzym es involved in t his pat hway. Definit ion

Spring 2003 envelope of m yelin t hat surrounds t he core of a nerve fiber or axon and facilit at es t he t ransm ission of nerve im pulses) .

from : www.fast healt h.com Published under license wit h Merriam - Webst er, I ncorporat ed. 1997- 2000.

Definit ion from : ht t p: / / www.bart leby.com The Am erican Herit age Dict ionary of t he English Language: Fourt h Edit ion. 2000.

Re t init is Pigm e nt osa : any of several heredit ary progressive degenerat ive diseases of t he eye m arked by night blindness in t he early st ages, at rophy and pigm ent changes in t he ret ina, const rict ion of t he visual field, and event ual blindness - called also pigm ent ary ret inopat hy .
Definit ion from : www.fast healt h.com Published under license wit h Merriam - Webst er, I ncorporat ed. 1997- 2000.

W olff- Pa r k inson W hit e Syndr om e : I n t hose who suffer from Wolff- Parkinson- Whit e Syndrom e, t here is an addit ional or accessory conduct ing pat hway, which leads from t he at ria t o t he vent ricles of t he heart . This can cause a disorderly act ion of t he heart , wit h at t acks of rapid heart beat ing which give rise t o palpit at ion. Definit ion from : Brit ish Healt h
Foundat ion ht t p: / / www.bhf.org.uk/ quest ions/ index.asp?sec ondlevel= 370&t hirdlevel= 514

Supr a ve nt r icula r Ta chyca r dia ( SVT) : a rhyt hm dist urbance of your heart . You experience rapid heart rat e caused by an elect rical im pulse st art ing in t he upper cham bers of your heart . Definit ion from : eMedicine
ht t p: / / www.em edicine.com / aaem / t opic431.ht m

Definit ion from : ht t p: / / define.ansm e.com / words/ v/ vasodilat or.ht m l WordNet 1.7, 2001 Princet on Universit y

Va sodila t or : a drug t hat causes dilat ion of blood vessels.

Definit ion from : ht t p: / / www.bart leby.com The Am erican Herit age Dict ionary of t he English Language: Fourt h Edit ion. 2000.

Sudde n I nfa nt D e a t h Syndr om e ( SI D S) : A fat al syndrom e t hat affect s sleeping infant s under a year old, charact erized by a sudden cessat ion of breat hing and t hought t o be caused by a defect in t he cent ral nervous syst em . Also called crib deat h.

Definit ion from : MEDLI NEplus ht t p: / / www.nlm .nih.gov/ m edlineplus/ ency/ art icl e/ 000187.ht m

Ve nt r icula r Ta chyca r dia : a rapid heart beat init iat ed wit hin t he vent ricles, charact erized by 3 or m ore consecut ive prem at ure vent ricular beat s.

Unm ye lina t e d: Lacking a m yelin sheat h ( The insulat ing

Va sova ga l syncope : t he m ost com m on cause of faint ing, occurs in ot herwise healt hy people. I t can affect people of all ages, but is part icularly com m on in young wom en. I t is also known as Neurocardiogenic Syncope or Vasodepressor Syncope. As t hese t erm s

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Dysautonomia News suggest , t he cause is low heart rat e or blood pressure, leading t o inadequat e circulat ion t o t he brain. This result s in faint ing, or loss of consciousness ( i.e., syncope) . Definit ion from eCure Me

Spring 2003
9. Schon, E. A., & Salvat ore, D. ( 2001) . Prim ary disorders of m it ochondrial DNA and t he pat hophysiology of m t DNA- Relat ed Disorders. I n Lem ast ers J. J., & Niem an, A. ( EDS.) , Mit ochondria in Pat hogenesis ( pp. 53- 80) . New York, NY: Kluwer Academ ic/ Plenum Publishers. 10. Giuliucci, M. Research Q&A: CFI DS and t he Aut onom ic Nervous Syst em . Ret rieved April 10, 2003, from CFI DS Associat ion of Am erica. Web Sit e: ht t p: / / www.cfids.org/ archives/ 2002/ 20023- art icle01.asp 11. Chazot t e, B. ( 2001) . Mit ochondrial dysfunct ion in chronic fat igue syndrom e. . I n Lem ast ers J. J., & Niem an, A. ( EDS.) , Mit ochondria in Pat hogenesis ( pp. 393- 410) . New York, NY: Kluwer Academ ic/ Plenum Publishers. 12. Boles, R. G. ( 2001) . Cyclic vom it ing in m it ochondrial disease. I n Think Mit ochondria ( pp. 61- 63) . Pennsylvania: n.p. 13. Fifer, W. P., Myers, M. M. ( 2002) . Sudden fet al and infant deat hs: shared charact erist ics and dist inct ive feat ures. Sem inars in Perinat ology. 26 ( 1) , 89- 96. 14. Zelnik, N., Axelrod, F. B., Leshinsky, E., Griebel, M. L., Kolodny, E. H. ( 1996) . Mit ochondrial encephalom yopat hies present ing wit h feat ures of aut onom ic and visceral dysfunct ion. Pediat ric Neurology, 14 ( 3) , 251254. 15. Sasaki, I ., Tsukaguchi, M., Takeuchi, H., Yam ada, A., Touge, T., Deguchi, K., Nishioka, M. ( 1995) . A case of m it ochondrial encephalom yopat hy wit h peripheral neuropat hy and aut onom ic sym pt om s. No To Shinkei, 47 ( 6) , 563- 567. 16. Cohen, B. H. ( n.d.) Ask t he Mit o Doc Q&A. Ret rieved April 10, 2003, from Unit ed Mit ochondrial Disease Foundat ion. Web sit e: ht t p: / / www.um df.org/ 17. Bonilla, E., Sciacco, M., Tanj i, K., Sparaco, M., Pet ruzzella, V., Moraes, C. T. ( 1992) . New m orphological approaches t o t he st udy of m it ochondrial encephalom yopat hies. Brain Pat hology. 2 ( 2) , 113- 119.

ht t p: / / www.ecurem e.com / em yhealt h/ dat a/ Neur ocardiogenic_Syncope.asp

Re fe r e nce s for Mit ochondrial Disease and Dysaut onom ia: Exploring t he Lit erat ure
1. Gold, D. R., Cohen, B. H. ( 2001) . Treat m ent of m it ochondrial cyt opat hies. Sem inars in Neurology. 21 ( 3) , 309325. 2. Unit ed Mit ochondrial Disease Foundat ion ( n.d.) . Redefining Hope . [ Unit ed St at es] : n.p., n.d. 3. Naviaux, R. K. ( 1997) . Overview: The spect rum of m it ochondrial disease. I n K. Weber ( Ed.) , Mit ochondrial and Met abolic Disorders ( pp. 3- 10) . Oradell, NJ: PSY- ED Corporat ion. 4. Jones, D. P., & Lash, L. H. ( 1993) . I nt roduct ion: Crit eria for Assessing Norm al and Abnorm al Mit ochondrial Funct ion. I n L. H. Lash & D. P. Jones ( Eds.) , Met hods in Toxicology: Vol. 2. Mit ochondrial Dysfunct ion ( pp. 1- 7) . San Diego, CA: Academ ic Press, I nc. 5. Boles, R. G. ( n.d.) Ask t he Mit o Doc Q&A. Ret rieved April 10, 2003, from Unit ed Mit ochondrial Disease Foundat ion. Web sit e: ht t p: / / www.um df.org/ 6. Cohen, B. H., & Gold, D. R. ( 2001) . Mit ochondrial cyt opat hy in adult s: What we know so far. Cleveland Clinic Journal of Medicine, 68 ( 7) , 625- 642. 7. Kerrison, J. B., Biousse, V., & Newm an, N. J. ( 2000) . Ret inopat hy of NARP syndrom e. Archives of Opht halm ology, 118, 298- 299. 8. Nissenkorn, A., Zeharia, A., Lev, D., Wat em berg, N., Fat t al- Valevski, A., Barash, V., Gut m an, A., Harel, S., & Lerm an- Sagie, T. ( 2000) . Neurologic Present at ion of Mit ochondrial Disorders. Journal of Child Neurology. 15 ( 1) , 4448.

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Contributors
The D ysa ut onom ia I nfor m a t ion N e t w or k w ould lik e t o t ha nk t he follow ing pe ople for cont r ibut ing t o t his ne w sle t t e r : M iche lle Sa w ick i, Edit or Judit h Pe t t ibone , Copy Edit or M e la nie Olive r io, Proofreader and Advisor *** D ysa ut on omia N ew s is a quart erly publicat ion of t he Dysaut onom ia I nform at ion Net work. Subscribe t o Dysaut onom ia News at : ht t p: / / www.pot splace.com / news let t er.ht m

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