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Arthrogryposis Multiplex Arthrogryposis Multiplex CongenitaCongenita
““A syndrome, not a A syndrome, not a disease”disease”
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HistoryHistory
Term arthrogryposis, derived from the Greek and Term arthrogryposis, derived from the Greek and means “bent joint”means “bent joint”
1st depicted in 1841 by A.W. Otto, then called 1st depicted in 1841 by A.W. Otto, then called congenital myodystrophycongenital myodystrophy
Arthrogryposis Multiplex Congenita term coined by Arthrogryposis Multiplex Congenita term coined by WG Stern in 1923WG Stern in 1923
Other terms were amyoplasia congenita and Other terms were amyoplasia congenita and congenital arthromyodysplasiacongenital arthromyodysplasia
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
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AMC - AMC - A descriptive term that A descriptive term that encompasses a wide variety of encompasses a wide variety of distinct diagnosis, involving distinct diagnosis, involving either a few or many joints with either a few or many joints with the joint in a fixed position and a the joint in a fixed position and a limitation of movement.limitation of movement.
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
DefinitionDefinition
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1.1. Primarily Limb InvolvementPrimarily Limb Involvement
2.2. Limb involvement+ other body Limb involvement+ other body areasareas
3.3. Limb + CNS involvementLimb + CNS involvement
Hall’s Classification of AMCHall’s Classification of AMC
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
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IncidenceIncidence
Varies ConsiderablyVaries Considerably
1:3,000 Canada1:3,000 Canada
3: 10,000 Finland3: 10,000 Finland
1:56,000 Edinburgh1:56,000 Edinburgh
2:1 male to female2:1 male to female
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
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EtiologyEtiology
Varied and poorly understoodVaried and poorly understood
Many cases, abnormal nerve, muscle and Many cases, abnormal nerve, muscle and connective tissue is involvedconnective tissue is involved
Anything that prevents normal joint movement Anything that prevents normal joint movement before birth- joint contracturesbefore birth- joint contractures
If joint immobile long enough, connective tissue If joint immobile long enough, connective tissue grows in and fixes the joints positiongrows in and fixes the joints position
Lack of joint movement causes tendons to be Lack of joint movement causes tendons to be stretched to less than their normal lengthstretched to less than their normal length
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
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Joint EmbryologyJoint Embryology
Begins at 5-6 weeks gestationBegins at 5-6 weeks gestation
Joint space and movement present at 8 weeksJoint space and movement present at 8 weeks
The longer the fetal akinesia, the more severe the The longer the fetal akinesia, the more severe the contracturescontractures
Muscle weakness and imbalance in forces related Muscle weakness and imbalance in forces related to the joint deformityto the joint deformity
Intrauterine position may play role in determining Intrauterine position may play role in determining the configuration of the deformitiesthe configuration of the deformities
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
EtiologyEtiology
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INTRINSIC FACTORSINTRINSIC FACTORS
VSVS
EXTRINSIC FACTORSEXTRINSIC FACTORS
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
PATHOGENESISPATHOGENESIS
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Intrauterine Vascular CompromiseIntrauterine Vascular Compromise
Severe bleedingSevere bleeding
Failed terminationFailed termination
Monozygotic twinsMonozygotic twins
Amniotic BandsAmniotic Bands
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
Pathogenesis- Intrinsic FactorsPathogenesis- Intrinsic Factors
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Maternal ConsiderationsMaternal Considerations Multiple SclerosisMultiple Sclerosis
Diabetes MellitusDiabetes Mellitus
Myasthenia GravisMyasthenia Gravis
Maternal InfectionMaternal Infection
Maternal HyperthermiaMaternal Hyperthermia
Drug ExposureDrug Exposure
Myotonic DystorphyMyotonic Dystorphy
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
Pathogenesis- Intrinsic FactorsPathogenesis- Intrinsic Factors
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Neurologic DeficitNeurologic DeficitDisorders of CerebrumDisorders of Cerebrum
Anterior Horn Cell deficiencyAnterior Horn Cell deficiency
Abnormalities of nerve function or Abnormalities of nerve function or structurestructure
(central and peripheral)(central and peripheral)
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
Pathogenesis- Intrinsic FactorsPathogenesis- Intrinsic Factors
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Muscle DefectsMuscle DefectsMuscles abnormally formedMuscles abnormally formed
oror
abnormal functionabnormal function
(e.g. congenital muscular dystrophy,(e.g. congenital muscular dystrophy,
mitochondrial disorders)mitochondrial disorders)
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
Pathogenesis- Intrinsic FactorsPathogenesis- Intrinsic Factors
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Connective Tissue/Skeletal DeficitConnective Tissue/Skeletal Deficit
Primary disorder of joint/connectivePrimary disorder of joint/connective
tissuetissue
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
Pathogenesis- Intrinsic FactorsPathogenesis- Intrinsic Factors
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Intrauterine mechanical obstructionIntrauterine mechanical obstruction
Fetal crowding: multiple birthsFetal crowding: multiple births
OligohydramniosOligohydramnios
Uterine myomasUterine myomas
Amniotic bandsAmniotic bands
TraumaTrauma
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
Pathogenesis- Extrinsic FactorsPathogenesis- Extrinsic Factors
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Thorough family history, previous deliveriesThorough family history, previous deliveries
Often AMC associated with presence of other syndromesOften AMC associated with presence of other syndromes
Pregnancy history- fetal movement ,infectionPregnancy history- fetal movement ,infection
Careful physical exam of the babyCareful physical exam of the baby
distal> proximaldistal> proximal
Elbows>Knees>Feet>Hips>Hands>ShouldersElbows>Knees>Feet>Hips>Hands>Shoulders
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
DIAGNOSISDIAGNOSIS
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Many forms of AMC mapped to loci on chromosonesMany forms of AMC mapped to loci on chromosones
Frequently presents as inherited disorder(family tree)Frequently presents as inherited disorder(family tree)
Radiographs of affected jointsRadiographs of affected joints
Head, abdominal US- rule out other anomaliesHead, abdominal US- rule out other anomalies
CT scan brainCT scan brain
MRI brain, spinal cordMRI brain, spinal cord
EEG, EMG, muscle biopsyEEG, EMG, muscle biopsy
ChromosomesChromosomes
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
WORK UPWORK UP
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Initial finding of AMC often overwhelming to parentsInitial finding of AMC often overwhelming to parents
Differentiate between neurogenic and myopathic (neurogenic- Differentiate between neurogenic and myopathic (neurogenic- worse prognosis)worse prognosis)
Birth is when baby is at its worstBirth is when baby is at its worst
Work with Orthopedic surgical team, Physiotherapist to improve Work with Orthopedic surgical team, Physiotherapist to improve movement and decrease stiffnessmovement and decrease stiffness
If no CNS or neurogenic component- normal IQIf no CNS or neurogenic component- normal IQ
Early intervention keyEarly intervention key
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
MANAGEMENTMANAGEMENT
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Passive Stretching with or without splintsPassive Stretching with or without splints
Serial castingSerial casting
Surgical interventionsSurgical interventions
Physical Therapy lifelong processPhysical Therapy lifelong process
Care begins in NICUCare begins in NICU
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
MANAGEMENTMANAGEMENT
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Hall reported 1% mortality with limb Hall reported 1% mortality with limb involvementinvolvement
7% with limb and other organ7% with limb and other organ
50% with limb and CNS involvement50% with limb and CNS involvement
Ventilator dependent at birth-poor prognosisVentilator dependent at birth-poor prognosis
Arthrogryposis Multiplex CogenitaArthrogryposis Multiplex Cogenita
OUTCOMEOUTCOME
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Typical arm position and wrist pit chararcteristic of AMCTypical arm position and wrist pit chararcteristic of AMC
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Two or more joints fixed in more than one limb at birthTwo or more joints fixed in more than one limb at birth
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PENA-SHOKIER SYNDROMEPENA-SHOKIER SYNDROME
Described as a syndrome of camptodactyly, Described as a syndrome of camptodactyly, multiple ankyloses, facial anomalies and multiple ankyloses, facial anomalies and pulmonary hypoplasiapulmonary hypoplasia
Lethal ConditionLethal Condition
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PENA-SHOKIER SYNDROMEPENA-SHOKIER SYNDROME
Autosomal Recessive most common Autosomal Recessive most common transmission patterntransmission pattern
Recurrence risk 0%- 25%Recurrence risk 0%- 25%
Incidence is unknownIncidence is unknown
30% stillborn30% stillborn
Live births succumb from pulmonary Live births succumb from pulmonary complicationscomplications
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PENA-SHOKIER SYNDROMEPENA-SHOKIER SYNDROME
Muscle histology abnormal, predominantly Muscle histology abnormal, predominantly neurogenic atrophyneurogenic atrophy
Spinal cord and CNS often abnormal as wellSpinal cord and CNS often abnormal as well
Lack of fetal movement often predicts the ultimate Lack of fetal movement often predicts the ultimate outcome for these childrenoutcome for these children
Chromosomes helpful as phenotype overlaps with Chromosomes helpful as phenotype overlaps with Trisomy 18Trisomy 18
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Pena-Shokeir syndrome. Characteristic facies, short neck, mild Pena-Shokeir syndrome. Characteristic facies, short neck, mild contractures at the hip, moderate contractures at elbows and knees,severe contractures at the hip, moderate contractures at elbows and knees,severe contractures and camptodactyly with ulnar deviation of the handscontractures and camptodactyly with ulnar deviation of the hands
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