documents.mx ataxia 558495943784e
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APPROACH TO ATAXIA
Dr. Deep Chandh Raja.S
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SYNOPSIS
Important concepts in AtaxiaATAXIA MIMIC!RS
Tests o" Cere#e$$ar d%s"&nction
Step'(ise approach to Cere#e$$arAtaxias
S&mmar%
A)*ORITHM "or cere#e$$ar ataxias
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+In Simp$e Terms,-
• ATAXIA' A#sence o" ORD!R- /Greek Word0
•
In Ne&ro$o1ica$ Terms'Incoordination o" mo2ement-
•
A major "eat&re o" a disease or j&st one o"the 2ario&s c$inica$ "eat&res o" a disease
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De3nition• Ataxia is the ina#i$it% to ma4e smooth5
acc&rate and coordinated mo2ements
• Arises "rom disorders o"6
77Cere#e$$&m77Sensor% path(a%s /Sensor% Ataxia077Posterior co$&mns5 dorsa$ root 1an1$ia5
periphera$ ner2es
778ronta$ $o#e $esions77!xtra p%ramida$ s%stem
779esti#&$ar s%stem
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Tests to di:erentiate 9ario&ss%stems in Ataxia' The Ataxia
Mimic4ers-
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Cere#e$$arAtaxia
Cortica$ Ataxia
M%opath%
)a#r%nthineAtaxia
Sensor% Ataxia
/Posterior Co$&mn0 Tha$amic Ataxia
Sensor% Ataxia/Periphera$
Ne&ropah%00
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S!NSORY ATAXIA
Dist&r#ances in the sensor% inp&t to thecere#e$$&m-
• Tests o" proprioception' ;oint sense5 passi2
mo2ementThe correcti2e e:ects o" the 9is&a$ s%stem
•C$assica$ Sensor% Ataxic *ait
•Rom#er1<s si1n
•)oss o" tendon re=exes
•
8eat&res o" Periphera$ ne&ropath%
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• Caveats
8riederic4<s ataxia5 M&$tip$e sc$erosis,• O2er$ap o" c$inica$ "eat&res to #e
expected in c$inica$ practice
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M&sc$e (ea4ness
• In the Mi$$er'8isher s%ndrome5 (hich isconsidered to #e a 2ariant o" ac&te *&i$$ain'>arr? po$%ne&ropath%
•
The se2ere ataxia and intention tremor arepres&ma#$% a res&$t o" a hi1h$% se$ecti2eperiphera$ disorder o" spinocere#e$$ar ner2e3#ers
•
Simp$e tests o" m&sc$e po(er- can he$pdetect m&sc$e (ea4ness in 2ario&s m&sc$e1ro&ps
• CAVEAT- $ead poisonin1
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)a#r%nthine Disorders
• Inp&t to cere#e$$&m
• Di@@iness5 $i1ht headedness5 perception
o" mo2ement-5 rotator% n%sta1m&s• In"ections5 neop$asms5 2asc&$ar ca&ses
CAVEAT: in2o$2ement o" =occ&$onod&$ar$o#e o" cere#e$$&m5 paraneop$astic and
$atera$ med&$$ar% s%ndromes /$atera$med&$$a and in"erior $o#e o" cere#e$$&m0
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Cortica$ Ataxias
8RONTA) )O>! ATAXIA re"ers to dist&r#ed coordinationd&e to d%s"&nction o" the contra$atera$ "ronta$ $o#e
'Res&$ts "rom disease in2o$2in1 the"rontopontocere#e$$ar 3#ers en ro&te to s%napse in thepontine n&c$ei.
• h%perre=exia5 increased tone and Re$ease re=exes
A $esion o" the SBP!RIOR PARI!TA) )O>B)!- /areas and o" >rodmann0 ma% rarely res&$t in ataxia o" thecontra$atera$ $im#s
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Tha$amicAtaxias
' transient ataxia a:ectin1 contra$atera$
$im#s a"ter $esion o" anterior tha$am&s
' ma% see associated motor /p%ramida$tract0 si1ns "rom in2o$2ement o" interna$caps&$e
' a$so can res&$t in asterixis in
contra$atera$ $im#s /hemiasterixis0
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>!FAR! O8 !XTR!M!)Y ANXIOBSPATI!NTSGGG
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C!R!>!))AR
ATAXIAS
ATAXIA IS TH! MOST IMPORTANT
8!ATBR! AMIDST OTH!R C)INICA)SI*NS O8 C!R!>!))AR DYS8BNCTION-
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N!O C!R!>!))BM
8)OCCB)ONODB)AR )O>!
SPINOC!R!>!))BM
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T!STS O8 C!R!>!))ARDYS8BNCTION
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ATAXIA
errors in the RATE, RANGE, FORCE !"RECT"ON o# movement$
•*AIT ATAXIA
• TRBNCA) ATAXIA
•)IM> ATAXIA
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C)ASSIC 8!ATBR!S AND T!STS
Dyssynergia6 res&$ts in jer4% de%om&osedmo2ements 'heel-knee-shin test(
Dysmetria6 d&e to de$a%ed acti2ation o"anta1onists
•' o"ten correction to tar1et #% series o" jer4% corrections /)n*er nose test(
•' ma% $ead to intention tremor in $im#s(ith 3n1er'to'nose or "oot'to'tar1et testin1as rh%thmic osci$$ation emer1es c$ose totar1et
Dysdiadochokinesis6 irre1&$arities o"
"orce5 speed5 and rh%thm
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Other "eat&resHypotonia6 decrease in resistance to passi2e
mo2ement o" m&sc$es re$ated to de&ression o# *ammamotor ne+ron a%tivity /&s&a$$% seen transient$% inac&te phase o" cere#e$$ar $esions05 pend&$$ar 4nee jer4
Rebound phenomenon6 re$ated to poor tone and
(ea4 chec4 response5 so (hen tap or disp$ace $im#5(ider ran1e o" mo2ement in ret&rn to static position5inc$. olmes &henomenon (hen s&dden$% re$ease=exed arm he$d a1ainst resistance ' &na#$e to stop=exion and arm stri4e se$" 'delay in a%tivation o#
anta*onist tri%e&s m+s%le(Dysarthria6 o"ten s%annin* t%pe (ith irre1&$arities intone5 (ith (ords #ro4en into s%$$a#$es o"ten s$o( (ithoccasiona$ rapid portions /exp$osi2e speech0
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Other "eat&resOcular Motor Abnormalities6' &s&a$$% i" 2esti#&$ar connections or =occ&$onod&$ar$o#e a:ected' p&rs&it mo2ements no lon*er smooth5 #&t saccadic' ma% o2er' or &nder'shoot tar1et (ith attempts at3xation /oc&$ar d%smetria0' in primar% position ma% see saccadic intr&sions /s&chas ma%ro s+are-.ave /erks0 or primar% n%sta1m&s/inc$. 2ertica$5 esp &p'#eat n%sta1m&s0 or periodica$ternatin1 n%sta1m&s're#o&nd n%sta1m&s can occ&r (ith contra$atera$'
#eatin1 n%sta1m&s on ret&rn o" e%es to primar%position a"ter eccentric 1a@e e2o4ed n%sta1m&s to onesideWriting abnormalitiesPositional projectile vomiting /posterior "ossa
$esions0
APPROACH TO C!R!>!))AR
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APPROACH TO C!R!>!))ARATAXIA
IN ADB)TS
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TH! 8OBR- B!STIONSJJJJ
• Mode o" ONS!T J
• PRO*R!SSION J
• 8oca$ KS%mmetric in2o$2ement J
• )oca$isation o" the cere#e$$ar $esion J
HISTORY
!XAMINATION
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MOD! O8 ONS!T
• ACBT!' ho&rs to da%s
•
SB> ACBT!' da%s to (ee4s
• CHRONIC' months to %ears
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ACBT! ONS!T ATAXIA
• "NTO0"CAT"ON: a$coho$ 5 $ithi&m 5phen%toin 5 #ar#it&rates
• 1O2T "NFECT"O32: Ac&te 9ira$Cere#e$$itis5 9L9
• VA2C34AR: In"arction /AICA5 PICAs%ndromes05 Haemorrha1e5 S&#d&ra$hematoma
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SB> ACBT! ATAXIA
• "NTO0"CAT"ON: Merc&r%5 So$2ents5 *$&e
• N3TR"T"ONA4: > and > de3cienc%
• "NFECT"ON: HI9
• !E56E4"NAT"NG: M&$tip$e Sc$erosis
• NEO14A2T"C: *$ioma5 Metastases
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CHRONIC ATAXIA
• A3TO"553NE CA32E2 : Paraneop$astics%ndromes5 *$&ten h%persensiti2it%5 Anti *ADa#s.
• 61OT6RO"!"25
• "NFECT"ON2: S%phi$is /Ta#es Dorasa$is0
• CONGEN"TA4 4E2"ON2: Arno$d'Chiari and Dand%Fa$4er S%ndromes
• "NER"TE! ATA0"A2:
AD5AR5XR5XD5Mitochondria$
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PRO*R!SSION
• Pro1ressi2e
•
Static
• Intermittent s%mptoms
• Re2ersi#$e Ataxias
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PRO*R!SSI9! ATAXIA
C)ASSI8ICATIONS O8 *R!!N8I!)D AND O8HARDIN*
into three main 1ro&ps6
/0 the spinocere#e$$ar ataxias5 (ith &nmista4a#$e
in2o$2ement o" the spina$ cord /Rom#er1 si1n5sensor% $oss5 diminished tendon re=exes5 >a#ins4isi1ns0
/0 the p&re cere#e$$ar ataxias5 (ith no otherassociated ne&ro$o1ic disorders and
/0 the comp$icated cere#e$$ar ataxias5 (ith a2ariet% o" p%ramida$5 extrap%ramida$5 retina$5 opticner2e5 oc&$omotor5 a&ditor%5 periphera$ ner2e5 andcere#rocortica$ accompaniments inc$&din1 (hat is
no( re"erred to as m&$tip$e s%stem atroph%
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STATIC ATAXIAS•
9asc&$ar ca&sesR!9!RSI>)! ATAXIAS
• In"ectio&s ca&ses 7 post 2ira$
• Th%roid• Dr&1s
• Toxins INT!RMITT!NT
SYMPTOMS• !pisodic Ataxias /Inherited etio$o1%0
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8OCA) K SYMM!TRICATAXIAS
• Cere#e$$ar s%mptoms on same side o"$esion5 or
• >i$atera$ s%mptoms
FOCA4 ATA0"A29asc&$ar ca&ses5 M&$tip$e Sc$erosis5
Cere#e$$ar a#scess5 cere#e$$ar 1$ioma5PM) /HI905 Con1enita$ ca&ses
2655ETR"C ATA0"A2
Intoxication5 N&tritiona$5 Post inhectio&s5H%poth%roid5 A&toimm&ne ca&ses
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)OCATION O8 )!SION•
C!R!>!))AR H!MISPH!RIC SYNDROM! Ipsi$atera$ head >od% cere#e$$ar si1ns In"arct5 Neop$asm5 A#scess5 Dem%e$ination
• ROSTRA) 9!RMIS SYNDROM!1ait and Tr&n4 Ataxia A$coho$ism5 > de3cienc%
• CABDA) 9!RMIS SYNDROM! DiseQ&i$i#ri&m5 Tr&n4ataxiaMed&$$o#a$stomas
• PANC!R!>!))AR SYNDROM! >i$atera$
si1ns Toxins5 meta#o$ic5 In"ections5A&toimm&ne5 Inherited
• C!R!>!))AR P!DBNC)!S Dramaticcere#e$$ar s%mptoms
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/)atera$ med&$$ar%'Fa$$en#er1
S%ndrome0
AICA
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AICA/)atera$ In"erior Pontine
S%ndrome0• 9esti#&$ar N. iK$ 2erti1o5 n%sta1m&s
• Cochear n. iK$ dea"ness
•
th
Crania$ Ner2e
iK$ "acia$ pa$s%• Cere#e$$&m iK$ Ataxia
• th crania$ ner2e iK$ hemisensor%
$oss o" "ace• Spinotha$amic Tract CK)
hemisensor% $oss
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TH! N!XT ST!P ,RB)! OBT
ACBIR!DATAXIAS
INH!RIT!DATAXIAS
SPORADIC orIDIOPATHIC
ATAXIAS
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ACBIR!D ATAXIAS
• 8irst r&$e o&t the Str&ct&ra$ ca&ses/MRI >rainK CT head0
'C9; anoma$ies
'Posterior "ossa t&mors
'Dem%e$inatin1 diseases
'H%poxic encepha$opathies'9asc&$ar ca&ses' in"arct5 haemorrha1e
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AcQ&ired Ca&ses
• HYPOTHYROIDISM' Mi$d 1ait ataxiaP)BS S%stems o" h%poth%roidism
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A)COHO)ISM
• 9ermian Atroph%
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TOXINS
• Cancer chemotherape&tics 8B5C%tara#ine
• Meta$s >ism&th5 Merc&r% /parasthesiass5
restricted 2is&a$ de"ects05 )ead• So$2entsPaint thinners 5 to$&ene
/Co1niti2e de"ects P)BS p%ramida$ tractsi1ns0
• Anticon2&$santsPhen%toin /p&r4inje ce$$$oss0a2oid in epi$eptics (ith ataxia
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IN8!CTIONS
• 9L9 in chi$dren
• !>9 in chi$dren
• >ic4ersta:<s encepha$itis /#rain
stemophtha$mop$e1ia5ataxia5$o(er c.npa$sies0
• HI9 / )%mphomas5 PM)5 In"ections5 Toxop$asmosis0
• C;D / c$assic C;D5 Ataxic 2ariant o"C;D0
• S%phi$is /Ta#es Dorsa$is0
•
Fhipp$e<s disease
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ABTOIMMBN! CABS!S
PARAN!OP)ASTIC SYNDROM!S
•ANTI H& a#s. Sma$$ Ce$$ Cancer )&n1/extrap%ramida$ si1ns0
•ANTI Yo a#s. O2arian cancer
•ANTI Ri a#s. >reast cancer /opsoc$on&s7saccadomania5 Tr&n4 ataxia0
•ANTI Tr a#s. Hod14in<s $%mphoma/hearin1 $oss0
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• *)BT!N S!NSITI9ITY ' Anti *$iadina#s.
/ataxia5 #ris4 re=exes5 periphera$
ne&ropathies0
• ANTI *AD a#s. 7 Dia#etes5
h%poth%roidism5 periphera$ne&ropath%STI88 P!RSON s%ndrome
ABTOIMMBN! CABS!S
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NBTRITIONA) CABS!S
• 8AT MA)A>SORPTION' 9it. !de3cienc%
• 9it. > 5 > de3ciencies
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INH!RIT!D ATAXIAS
• AD
• AR
•
MITOCHONDRIA) DISTBR>ANC!S• X )IN!D R!C!SSI9!
• X )IN!D DOMINANT
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INH!RIT!D ATAXIAS
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INH!RIT!D ATAXIAS
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ABTOSOMA) DOMINANT
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• SPINO C!R!>!))AR ATAXIAS/T%pes0'pre2io&s$%o$i2opontocere#e$$ar atrophies
• DentatoR&#roPa$$ido)&%sian Atroph%
• !PISODIC ATAXIAS /T%pes 0
ABTOSOMA) DOMINANT
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SCA SA)I!NT 8!ATBR!S
• 'th decade o" $i"e ONS!T5 $oss o"am#&$ation o2er ' %rs. "rom onset
• Phenomena ca$$ed ANTICIPATION and
P!N!TRANC! di:ers "rom eachSCAresponsi#$e "or 2ario&s a1es o"presentation and 2aria#$e phenot%pic
expression• CA* repeat expansion in most o" them
AD ATAXIAS< SA)I!NT
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• BMN SI*NS SCA 5 SCA5 SCA • O)D!R A*!SCA U
• M!NTA) R!TARDATIONSCA
•
9ISBA) )OSS
SCA • CHOR!A5 MYOC)ONBSDRP)A
• S!ILBR!S SCA
• AR!8)!XIASCA
•
INT!R!PISODIC NYSTA*MBS!A • INT!R!PISODIC MYOYMIA !A
• NO 8AMI)Y hKo SCA U
AD ATAXIAS SA)I!NT8!ATBR!S
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SCA
SCA M;D
SCA
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ABTOSOMA) R!C!SSI9!ATAXIAS
ABTOSOMA) R!C!SSI9!
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• 8RI!D!RIC<S ATAXIA
• ATAXIA T!)AN*I!CTASIA
• ATAXIA FITH ISO)AT!D 9IT.! D!8ICI!NCY
• A>!TA)IPOPROT!IN!MIA
• !NLYM! D!8ICI!NCI!S /Map$e S%r&p&rine disease5 Brea c%c$e de"ects5
Sia$idosis5 Adreno$e&cod%stroph%5Or1anicacid&ria5 P%r&2ate deh%do1enase de".0
ABTOSOMA) R!C!SSI9!ATAXIAS
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8riederic4<s ataxia•
Bnsta#$e expansion o" *AArepeats8RATAXIN proteinironacc&m&$ation inmitochondrianito.inj&r%ne&rona$ inj&r%
•
DORSA) *AN*)ION C!))S' a#sent re=exes• DORSA) CO)BMN D!*!N!RATION'
dec.post.co$&mn senses
• SPINOC!R!>!))AR TRACT'1ait atxia5
d%sarthria• CORTICOSPINA) TRACT' >a#ins4i Positi2e
• OTH!R SI*NS' d%spha1ia5optic atroph%5 spina$and "oot de"ormities5 dia#etes /05 cardiac
de"ects /0
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8riederic4<s ataxia
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• NAT3RA4 "2TOR6:
'onset V %rs. At ADO)!SC!NC!
'$oss o" am#&$ation %rs. Since onset
'Death &s&a$%% d&e to cardiaccomp$ications
• VAR"ANT2:
'8A (ith Retained re=exes
')ate onset 8A
8riederic4<s ataxia
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ATAXIA T!)AN*I!CTASIA
• OCB)OMOTOR APRAXIA 5 T!)AN*I!CATSIAS IN !Y!S5 SIN
• Hemato$o1ica$ ma$i1nancies
/de"ecti2e DNA repairs0
• In"ections /I1 de3ciencies0
• Other "eat&res'periphera$ne&ropath%5 choreoathetosis
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ATAXIA T!)AN*I!CTASIA
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Mitochondria$ Inheritance
• M!RR8
• M!)AS
• NARP
•
RP de1eneration• Short stat&re5 !ndocrine de3ciencies5
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X $in4ed ATAXIAS
• X $in4ed Dominant' 8ra1i$e Xs%ndrome
• C** repeats< expansion
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• X $in4ed Recessi2e Ataxias'Sidero#$astic anemia (ith ataxia
X $in4ed ATAXIAS
SPORADIC IDIOPATHIC
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SPORADIC or IDIOPATHICATAXIAS
• Bn4no(n 1enetic de"ects a"ter r&$in1o&t acQ&ired ca&ses
• O$d a1e o" onset
• Presents (ith D%sa&tonomia 7Orthostatic h%potension5 erecti$ed%s"&nction5 Brinar% incontinence
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In2esti1ations
• MRI >rain and Bpper cer2ica$ cord• CT Head• 9it. !5 > $e2e$s•
Tota$ cho$estero$ $e2e$s5 Th%roid hormones• NC9 and !M* st&dies /to r&$e o&t other
s%stems< in2o$2ement0• Toxico$o1% screen /inc$&des phen%toin
$e2e$s0• Sero$o1% screen /"or a&toanti#odies0• CS8 ana$%sis• *enetic Ana$%ses /*AA5 C**5 CA* repeat
ana$%ses0
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TR!ATM!NT•
Re2ersi#$e ca&ses to #e identi3edand treated
• Str&ct&ra$ $esions to #e considered
"or s&r1er%• Dietar% modi3cations
• ID!>!NON!' in 8riederic4<s Ataxia
• RI)BLO)!' in 8riederic4<s Ataxia• AC!TALO)AMID!' in !pisodc Ataxia
• *!N!TIC COBNS!))IN*
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HISTORY SBMMARY. D&ration6 ac&te5 s&#ac&te 2s chronic
. Rate o" Pro1ression6 static 2s pro1ressi2e. Constant 2s ParoxysmalW. Associated "eat&res6' headache 2omitin1 s&11estin1 mass $esion (ithraised ICP
' pre2io&s ne&ro$o1ica$ e2ents /simi$ar (ith ataxia ' as inepisodic ataxias5 or other as in m&$tip$e sc$erosis or2erte#ro#asi$ar TIAs0. Medica$ Histor%6' recent in"ection5 Hx o" ma$i1nanc% or (ei1ht $oss5
#reast mass K tenderness5 co&1h K hemopt%sis' dr&1 &se K intoxication5 medications5 alcohol5 smo4in15en2ironmenta$ expos&resU. amily History positi2e or ne1ati2e /in si#$in1s orco&sins #&t not parents s&11estin1 a&tosoma$ recessi2eor parents andKor si#s s&11estin1 a&tosoma$ dominantinheritance
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!XAMINATION SBMMARY!eneral examination"
' si1ns o" primar% neop$asm /(ith paraneop$astic or metastaticataxia05 2asc&$ar disease /stro4e05 cardiac a#norma$it% /8riedreic4s0or a%ser'8$eischer rin1s /Fi$sons0
'short stat&re and cataracts (ith mitochondria$ disease
Higher Mental unctions6
' con"&sion associated (ith ataxia in Fernic4es5 dr&1 oren2ironmenta$ toxicit%5 prion diseases or an% condition o#str&ctin1Wth 2entric$e $eadin1 to h%drocepha$&s (ith raised ICP
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#ranial $erves"' ophtha$mop$e1ia seen in Fernic4es5 #rainstemin"arcts5 dem%e$inatin1 $esions5 andMi$$er'8isher s%ndrome /M8S0' n%sta1m&s common in most 2esti#&$ocere#e$$ar/or pancere#e$$ar0 disorders #&t prominent i" dr&1toxicit% /e1. phen%toin05 Fernic4es and m&$tip$esc$erosis /a$so episodic ataxia'0' associated #rainstem /crania$ ner2e0 d%s"&nctioni" concomitant in2o$2ement o" #rainstem or
compression o" it #% mass e:ect "rom cere#e$$&m' hearin1 $oss or tinnit&s (ith $esions o" thecere#e$$opontine an1$e /e1. 2esti#&$ar sch(annomaor menin1ioma0
!XAMINATION SBMMARY
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!XAMINATION SBMMARY
Motor"' (ea4ness associated (ith ataxia is &ncommon #&tcan #e seen ipsi$atera$$% (ith in"arcts /or other$esions0 o" the #asis pontis or interna$ caps&$e/ataxi% hemi&aresis s%ndrome0
' a$so seen in M8S /(ith concomitant dem%e$inatin1po$%ne&ropath%05 cord d%s"&nction /in paraneop$astics%ndromes or dem%e$inatin1 m&$ti"oca$ disease0' tremor associated either as intention tremor o"cere#e$$ar ori1in or post&ra$ tremor in 8XTAS /8ra1i$eX05 m&$tip$e sc$erosis5 Fi$sons disease
' m%oc$on&s in prion disorders (ith cere#e$$arin2o$2ement' par4insonism (ith ataxia in m&$tip$e s%stemsatroph% /a$so d%stonia and chorea i" DRP)A0
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SBMMARY•
RB)! OBT ATAXIA MIMIC!RS-• CON8IRM PR!DOMINANT C!R!>!))AR
IN9O)9!M!NT FITH R!SP!CTI9! T!STS
• ANSF!R TH! 8OBR- B!STIONS
/Onset5 pro1ression5 S%mmetr%5)oca$isation o" $esion0
• RB)! OBT ACBIR!D CABS!S
• )AR*! P!DI*R!! CHART
• *!N!TIC ANA)YS!S
A)*ORITHM
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A)*ORITHM
P!DI*R!!CHART
ACBIR!D CABS!S
AD
IMA*IN*/MRI5CT0
SCA5M;D
SCAU5
SCA5DRP)ASCA
8A
ATA9!D
A>!TA)IPOPROT!IN!MIA
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