Arthrogryposis congenita

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  • 1. Arthrogryposis Multiplex Congenita A syndrome, not a disease1

2. Arthrogryposis Multiplex CogenitaHistory Term arthrogryposis, derived from the Greek and means bent joint 1st depicted in 1841 by A.W. Otto, then called congenital myodystrophy Arthrogryposis Multiplex Congenita term coined by WG Stern in 1923 Other terms were amyoplasia congenita and congenital arthromyodysplasia2 3. Arthrogryposis Multiplex CogenitaDefinition AMC -A descriptive term that encompasses a wide variety of distinct diagnosis, involving either a few or many joints with the joint in a fixed position and a limitation of movement.3 4. Arthrogryposis Multiplex CogenitaHalls Classification of AMC 1.Primarily Limb Involvement2.Limb involvement+ other body areas3.Limb + CNS involvement4 5. Arthrogryposis Multiplex CogenitaIncidence Varies Considerably 1:3,000 Canada 3: 10,000 Finland 1:56,000 Edinburgh 2:1 male to female 5 6. Arthrogryposis Multiplex CogenitaEtiology Varied and poorly understood Many cases, abnormal nerve, muscle and connective tissue is involved Anything that prevents normal joint movement before birth- joint contractures If joint immobile long enough, connective tissue grows in and fixes the joints position Lack of joint movement causes tendons to be stretched to less than their normal length6 7. Arthrogryposis Multiplex CogenitaEtiology Joint Embryology Begins at 5-6 weeks gestation Joint space and movement present at 8 weeks The longer the fetal akinesia, the more severe the contractures Muscle weakness and imbalance in forces related to the joint deformity Intrauterine position may play role in determining the configuration of the deformities7 8. Arthrogryposis Multiplex CogenitaPATHOGENESISINTRINSIC FACTORS VS EXTRINSIC FACTORS8 9. Arthrogryposis Multiplex CogenitaPathogenesis- Intrinsic Factors Intrauterine Vascular Compromise Severe bleeding Failed termination Monozygotic twins Amniotic Bands9 10. Arthrogryposis Multiplex CogenitaPathogenesis- Intrinsic Factors Maternal Considerations Multiple Sclerosis Diabetes Mellitus Myasthenia Gravis Maternal Infection Maternal Hyperthermia Drug Exposure Myotonic Dystorphy10 11. Arthrogryposis Multiplex CogenitaPathogenesis- Intrinsic Factors Neurologic Deficit Disorders of Cerebrum Anterior Horn Cell deficiency Abnormalities of nerve function or structure (central and peripheral)11 12. Arthrogryposis Multiplex CogenitaPathogenesis- Intrinsic Factors Muscle Defects Muscles abnormally formed or abnormal function (e.g. congenital muscular dystrophy, mitochondrial disorders)12 13. Arthrogryposis Multiplex CogenitaPathogenesis- Intrinsic Factors Connective Tissue/Skeletal Deficit Primary disorder of joint/connective tissue13 14. Arthrogryposis Multiplex CogenitaPathogenesis- Extrinsic Factors Intrauterine mechanical obstruction Fetal crowding: multiple births Oligohydramnios Uterine myomas Amniotic bands Trauma14 15. Arthrogryposis Multiplex CogenitaDIAGNOSIS Thorough family history, previous deliveries Often AMC associated with presence of other syndromes Pregnancy history- fetal movement ,infection Careful physical exam of the baby distal> proximal Elbows>Knees>Feet>Hips>Hands>Shoulders15 16. Arthrogryposis Multiplex CogenitaWORK UP Many forms of AMC mapped to loci on chromosones Frequently presents as inherited disorder(family tree) Radiographs of affected joints Head, abdominal US- rule out other anomalies CT scan brain MRI brain, spinal cord EEG, EMG, muscle biopsy Chromosomes 16 17. Arthrogryposis Multiplex CogenitaMANAGEMENT Initial finding of AMC often overwhelming to parents Differentiate between neurogenic and myopathic (neurogenic- worse prognosis) Birth is when baby is at its worst Work with Orthopedic surgical team, Physiotherapist to improve movement and decrease stiffness If no CNS or neurogenic component- normal IQ Early intervention key17 18. Arthrogryposis Multiplex CogenitaMANAGEMENT Passive Stretching with or without splints Serial casting Surgical interventions Physical Therapy lifelong process Care begins in NICU18 19. Arthrogryposis Multiplex CogenitaOUTCOME Hall reported 1% mortality with limb involvement 7% with limb and other organ 50% with limb and CNS involvement Ventilator dependent at birth-poor prognosis19 20. Typical arm position and wrist pit chararcteristic of AMCQuickTime and a TIFF (Uncompressed) decompressor are needed to see this picture.20 21. Two or more joints fixed in more than one limb at birthQuickTime and a TIFF (Uncompressed) decompressor are needed to see this picture.21 22. PENA-SHOKIER SYNDROME Described as a syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia Lethal Condition22 23. PENA-SHOKIER SYNDROME Autosomal Recessive most common transmission pattern Recurrence risk 0%- 25% Incidence is unknown 30% stillborn Live births succumb from pulmonary complications23 24. PENA-SHOKIER SYNDROME Muscle histology abnormal, predominantly neurogenic atrophy Spinal cord and CNS often abnormal as well Lack of fetal movement often predicts the ultimate outcome for these children Chromosomes helpful as phenotype overlaps with Trisomy 1824 25. Pena-Shokeir syndrome. Characteristic facies, short neck, mild contractures at the hip, moderate contractures at elbows and knees,severe contractures and camptodactyly with ulnar deviation of the handsQuickTime and a TIFF (Uncompressed) decompressor are needed to see this picture.25