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Arthrogryposis Multiplex Arthrogryposis Multiplex Congenita Congenita A syndrome, not a A syndrome, not a disease” disease” 1

Arthrogryposis congenita

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Page 1: Arthrogryposis congenita

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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