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Arthrogryposis multiplex congenita

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Management of arthrogryposis

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Arthrogryposis multiplex congenita

  2. 2. INTRODUCTION  Term arthrogryposis, derived from the Greek and means “bent joint”  1st depicted in 1841 by A.W. Otto, then called congenital myodystrophy  Subsequently termed “multiple congenital contractures” by Schantz in 1897,  Arthrogryposis” by Rosenkranz  Arthrogryposis Multiplex Congenita term coined by WG Stern in 1923  Scheldon in 1932 described clinical features of congenital multiple contractures in a child and used for the first time the name “amyoplasia congenita”  Other terms were amyoplasia congenita and congenital arthromyodysplasia
  3. 3. Defination  The term arthrogryposis is used to denote nonprogressive conditions characterized by multiple joint contractures found at birth & It involves contractures of at least two joints in two different body regions.  Incidence:  Varies Considerably  1:3,000 Canada  3: 10,000 Finland  1:56,000 Edinburgh  2:1 male to female
  4. 4. Hall’s Classification of AMC 1. Primarily Limb Involvement 2. Limb involvement+ other body areas 3. Limb + CNS involvement
  5. 5. Etiology  It usually occurs due to absence of active fetal movements (akinesia), normally appearing in the eighth week of fetal life  Fetal akinesia lasting over 3 weeks may be sufficient to result in absence of normal stretching of muscles and tendons acting on the affected joints, and cause reduced compliance of the joint capsule and periarticular ligaments  Consequently fetal akinesia leads to fibrosis and contractures of the affected joints determined by the passive position of the limb.  The direct etiological factor causing akinesia in humans remains unknown, but a number of abnormalities can be found.
  6. 6. PATHOGENESIS  Divided into  Intrinsic factors  Extrinsic factors
  7. 7. Intrinsic Factors  Intrauterine Vascular Compromise  Severe bleeding  Failed termination  Monozygotic twins  Amniotic Bands
  8. 8. Intrinsic Factors  Maternal Considerations  Multiple Sclerosis  Diabetes Mellitus  Myasthenia Gravis  Maternal Infection  Maternal Hyperthermia  Drug Exposure  Myotonic Dystorphy
  9. 9. Intrinsic Factors  Neurologic Deficit  Disorders of Cerebrum  Anterior Horn Cell deficiency  Abnormalities of nerve function or structure (central and peripheral)
  10. 10. Intrinsic Factors  Muscle Defects  Muscles abnormally formed (caused by a defect of myogenesis-regulating genes resulting in abnormal development of myocytes) or abnormal function (troponin I, α-actinin 3 gene mutations) or mitochondrial cytopathy (e.g. congenital muscular dystrophy, mitochondrial disorders)
  11. 11. Intrinsic Factors  Connective Tissue/Skeletal Deficit  Primary disorder of joint/connective tissue  In Diastrophic dysplasia the primary defect is the deficiency of sulfur enzyme in the connective tissue, mediated by a gene located in chromosome 5q. Tendons, despite normal structure, may have abnormal insertions and thus cause limited active fetal motion and consequently symptomatic arthrogryposis.  Collagen disorders resulting in replacement of muscle tissue by connective tissue and thickening of joint capsules have been observed e.g. in Larsen's syndrome, multiple pterygium syndrome, congenital arachnodactyly, and Beals syndrome
  12. 12. Extrinsic Factors  Intrauterine mechanical obstruction  Fetal crowding: multiple births  Oligohydramnios  Uterine myomas  Amniotic bands  Trauma
  13. 13. Genetics of arthrogryposis  Arthrogryposis is a group of clinical symptoms that can be observed in many different genetic syndromes;  Sporadic  Single-gene mutations (e.g. autosomal dominant, autosomal recessive and X-linked recessive inheritance patterns).  Chromosomal disorders (e.g. trisomy 18) such as deletion, translocation, or duplication, and mitochondrial disorders.
  14. 14. Approach to diagnosis  Family history  Pregnancy history  Delivery history  Physical exam  Multidisciplinary Team
  15. 15. Family history  Affected children/family members (hyperextensibility, dislocated joints, dislocated hips, and clubfeet).  Incidence of congenital contractures 2° and 3° relatives.  Consanguinity  Maternal age  Intrafamilial variability (parent may be affected very mildly or may have had contractures early in infancy)  Review previous miscarriages or stillbirths.
  16. 16. Pregnancy history  Infants born to mothers affected with myotonic dystrophy, myasthenia gravis, or multiple sclerosis are at risk  Maternal infections (rubella, rubeola, coxsackievirus, enterovirus, akabane)  Maternal fever > 39 °C, contractures due to abnormal nerve growth or migration.  Teratogens  Oligohydramnios  Contractures, bleeding, trauma, hypoxia
  17. 17. Delivery History  Traumatic delivery in about 5-10% of cases.  Abnormal placenta, membranes, or cord insertion in case of amniotic bands or vascular compromise  Umbilical cord shortened or wrapped around a limb, leading to compression  Multiple births or twins  Death of one twin may lead to vascular compromise in the remaining twin
  18. 18. Clinical features  Amyoplasia or classic arthrogryposis:  A – absence, myo – muscle, plasia – development(non-development of muscles).  It is a sporadic multiple contractures syndrome.  Usually with symmetrical involvement of multiple joints in lower and upper limbs.  The central nervous system function is normal  The muscle tissue is often replaced with fatty and fibrous tissues
  19. 19. Upper limb  Shoulder  Adducted and internally rotated.  Deltoid muscle function is deficient.  Elbow  Extension contracture of the elbows with deficient brachialis and biceps brachii function, resulting in absent or significantly deficient elbow flexion.  Flexion contracture of the elbow is less commonly observed. The elbow joint is cylindrical in appearance and devoid of any skin creases .
  20. 20. Upper limb  Wrist  Characteristic palmar flexion contracture with ulnar deviation and pronation of the hand.  Patients with myogenic arthrogryposis may present with extension contracture of the wrist.  Hand  Flexion contractures of interphalangeal joints(most common).  Metacarpophalangeal joints relative extension contractures.  Thumb is usually adducted. Finger contractures are usually stiff and most patients have significant deficiency of active finger movements  In syndromic arthrogryposis “clenched fist” with “thumb in palm” deformities may be observed.
  21. 21. Lower limb  Hip  Mostly flexion, abduction, and external rotation contractures of varying degrees of severity.  Unilateral or bilateral hip dislocation is observed in approximately 1/3 of patients.  Knee –  The most common deformity is flexion contracture of varying severity, Flexion contracture is usually associated with weak quadriceps and a “dimple” over the patella.  An extension contracture is less commonly observed and may be accompanied by knee dislocation.
  22. 22. Lower limb  Ankle joint And Foot  These deformities are observed in nearly all arthrogryposis patients.  Severe talipes equinovarus (most common).  Less frequently vertical talus observed.  These deformities are characterized by usually extreme severity, difficulties in treatment and high tendency to relapse.  Spine  Abnormal curvatures in approximately 28% to 67% of patients  Simple long thoracolumbar curves without concomitant vertebral malformations  The curves often rapidly progress
  23. 23. Extra skeletal manifestations  Facial skeleton –  Hypoplasia of the mandible (micrognathia).  Contracture and limited function of temporo-mandibular joints.  Extraskeletal clinical signs and symptoms  Normal intelligence  Hemangioma on the forehead.  Abdominal wall abnormalities(inguinal hernia or gastroschisis)  Varying abnormalities of the reproductive.
  24. 24. Distal Arthrogryposis  Inheritance is autosomal dominant  Contractures limited mainly to the distal portions of the limbs, i.e. to wrists, hands, ankles, and joints of the foot.  Contractures of other joints are low-degree or are absent altogether.  According to Bamshad 10 types of distal arthrogryposis had been described
  25. 25. Classification of Distal Arthrogryposis I Characteristic clinical features are camptodactyly and talipes equinovarus with possible concomitant shoulder and hip contractures. The DA1 variant is determined by a gene located on chromosome 9. II The phenotype was first described in 1938 as the Freeman-Sheldon syndrome where contractures of fingers and toes are accompanied by kyphosis, scoliosis, and malformations of the facial skeleton with characteristic facial appearance: narrow mouth, wide cheeks, an H-shaped chin dimple, small wide-based nose, high palate, and small tongue. Growth retardation, inguinal hernia, and cryptorchidism have also been reported. Another name of this syndrome is “whistling face” syndrome. The Freeman- Sheldon syndrome is currently classified as DA2A, as a separate DA2B subtype, known as Sheldon-Hall syndrome has been described; this syndrome combines clinical features of DA1 (hand and foot contractures) and some features of DA2 (prominent nasolabial folds, slanted down-facing eyes, and narrow mouth) and is currently considered to be probably the most common type of distal arthrogryposis.
  26. 26. Classification of Distal Arthrogryposis III Also known as Gordon's syndrome, this rare syndrome is characterized by low stature and palatoschisis IV Rare. Contractures with severe scoliosis V Contractures with ocular signs and symptoms such as limited eye motion, ptosis, strabismus, and the absence of typical hand flexion creases. Chest wall muscle abnormalities have also been observed, potentially causing restricted respiratory movements and, consequently, pulmonary hypertension VI Similar to DA3, DA4; very rare, characterized by sensorineural auditory abnormalities VII Difficulties in mouth opening (trismus) and pseudocamptodactyly: wrists position in palmar flexion with MCP joints in extension. Sometimes accompanied by low stature and knee flexion contractures VIII Autosomal dominant multiple pterygium syndrome IX Beals syndrome, i.e. congenital arachnodactyly with contractures of small joints of the fingers. Patients with this type of arthrogryposis are tall and slender, phenotypically resembling Marfan syndrome but without cardiovascular abnormalities X Congenital plantar flexion contractures of the foot
  27. 27. Other Arthrogryposis  Pterygium syndromes  These are a separate class of genetically mediated congenital contractures, characterized by the presence of pterygia: these are skin webs located in the area of a joint and causing limitation of its range of motion. Skin webs may also be found in lateral portions of the neck, and be accompanied by cleft palate or lip, syndactyly or atypical fingerprints. Many variations have been described with varying inheritance patterns of clinical features including autosomal dominant or recessive, e.g. lethal Bartsocas-Papas syndrome
  28. 28. Popliteal Pterygia
  29. 29. Other Arthrogryposis  Escobar's syndrome (multiple pterygium syndrome)  Neck webs are evident at birth but are not always severe. Clinically the Escobar syndrome is characterized by facial dysmorphism, neck (bucco-sternal) webs, and hand contractures. With age, the neck webs may increase in size; the neck mobility is limited due to concomitant congenital vertebral malformations. The lumbar lordosis increases with age as well; in adolescence, lumbar lordosis and popliteal and cubital webs increase in size. The inheritance pattern is autosomal recessive, sometimes autosomal dominant; the syndrome may be associated with mental retardation. The lethal multiple pterygium syndrome is autosomal recessive; features include severe contractures, hypertelorism, cervical pterygia, narrow chest, and hypoplastic lungs.
  30. 30. Other Arthrogryposis  Larsen syndrome  A genetically mediated, autosomal dominant syndrome with an incidence of 1/100,000 live births, caused by a mutation of the gene encoding filamin B (FLNB), a component of the actin complex in the cell protein cytoskeleton. The clinical features of Larsen syndrome may include multiple contractures, most commonly in the form of talipes equinovarus. The dominant features are hypermobility and congenital dislocations of multiple joints: hips, knees, and elbows. Cervical spine instability and kyphosis may be present, leading to potentially life-threatening cervical cord injuries; other features include: laryngomalacia and/or subglottic stenosis, low body stature, central facial hypoplasia, and accessory metacarpal and metatarsal bones. Mental development is usually normal.
  31. 31. Other Arthrogryposis  Bruck syndrome  Extremely rare, autosomal recessive form of arthrogryposis, with combined clinical features of osteogenesis imperfecta and congenital contractures; this disease was historically described by Alfred Bruck in 1897
  32. 32. Investigations  Lab Studies:  CPK  IgM  Viral titers (eg, coxsackievirus, enterovirus, Akabane virus)  Maternal antibodies to neurotransmitters in the infant may indicate myasthenia gravis.  Cytogenetic studies  Fibroblast chromosome study  Nuclear DNA mutation analysis  Mitochondrial mutation
  33. 33. Investigations  Imaging Studies:  Radiographs  Ultrasonography  CT scan  MRI  Other Tests:  Skin biopsy  Muscle biopsy Distinguish myopathic from neuropathic conditions  Electromyography (EMG)  Nerve conduction tests
  34. 34. Treatment  The principal treatment goal in arthrogryposis is optimization of quality of life: this includes communication capabilities, unassisted activities of daily living, social participation capacity, independent ambulation, and consequently independent living.  In order to achieve these goals, management must be initiated as early as possible, and optimally in the neonate and infant.
  35. 35. Treatment  This comprehensive approach is based on a triad of treatment tools:  Firstly, rehabilitation including physiotherapy, manipulation of contractures, and later social and occupational rehabilitation.  Secondly, individually tailored orthotic management, whether for maintenance or correction of joint mobility, and for prevention of recurrent deformities.  Thirdly, a broad spectrum of surgical techniques for correction of musculoskeletal deformities, typically found in congenital contractures
  36. 36. Rehablitation and Physiotherapy  The parents of a child with arthrogryposis often place the greatest importance on independent ambulation and concentrate their attention on this ability in the treatment program .  It is therefore extremely important that the treatment plan and its objectives – both immediate and long-term – be communicated to both the patient and the parents.  At birth Gentle stretching and ROM exercises  Passive stretching exercise followed by serial splinting with custom made thermoplastic splints
  37. 37. Rehablitation and Physiotherapy  Existing joint motion to be preserved and placed in most functional position  Stiff joints placed for functional advantage  2 major goals  Plantigrade standing and walking  Restoring function of upper limb to carry out daily living activities
  38. 38. Surgical Management  Outcomes better if joint surgery is done early, before adaptive intraarticular changes  Osteotomies are usually performed closer to the completion of growth.  Knee and hip surgery – around 6 to 9 months  Foot surgery – when patient starts standing
  39. 39. Upper Extremity  Shoulder:  Internal rotation rarely causes a problem  Fixed internal rotation may cause difficulty in normal elbow and hand function so subcapital derotation osteotomy of humerus could be performed.
  40. 40. Upper Extremity  Elbow Deformities :  Range of motion exercises ,Early splinting & Serial casting.  Stiff flexed – surgery not indicated  Elbow Extension Contractures :  One side to be treated at a time  Posterior capsulotomy and triceps tendon lengthening  Transfer of triceps, pectoralis, or latissimus dorsi Elbow stability in extension to be maintained Steindler flexorplasty Improves active flexion if passive flexion ≥ 90 °  Triceps to biceps transfer most common, good results in ~80%
  41. 41. Upper Extremity  Wrist Deformities:  Volar flexion and ulnar deviation  Splinting shortly after birth  Surgical  For fixed wrist contractures interfering with function  Release of:  Volar wrist capsule  Flexor Carpi Ulnaris tendon transfer to Extensor Carpi Radialis Brevis  Osteotomy of distal radius  Intracarpal extension osteotomy  Post-op splinting ….. to improve dorsiflexion  3. Arthrodesis • Near skeletal maturity in slight palmar flexion
  42. 42. Upper Extremity  Finger Deformities:  Finger Flexion Contractures  Physioherapy and splinting.  Surgery • Release of proximal intraphalangeal joint contractures not helpful for function  Arthrodesis  Intraphalangeal  At skeletal maturity
  43. 43. Upper Extremity  Thumb-in-Palm Deformity:  Surgical  Z-plasty: release of adductor pollicis  First metacarpal osteotomy  First metacarpophalangeal joint arthrodesis  Brachioradialis to thumb extensor transfer
  44. 44. Spine  Surgical management of the spine:  Spinal deformities develop in 30–62% of arthrogryposis patients.  In moderate deformities, rehabilitation measures are used  The use of corrective braces usually has limited efficacy in arthrogryposis children, but some authors recommend it in curvatures of up to 30° of Cobb's angle  Satisfactory surgical correction in AMC children is more difficult and is burdened with a higher rate of complications.
  45. 45. Spine  Surgery:  progression, age, imbalance  25° - 40°  brace treatment – not effective with progressive z z z >40°  Spinal fusion with instrumentation  Combined approach (ant/post)  Treated same way as idopathic scoliosis  Paralytic curves & lumbosacral obliquity >15°  Fusion to pelvis recommended
  46. 46. Lower Extremity  Surgical management of the lower limb  In Arthrogryposis lower limb contractures are frequently multifocal and severe.  They usually require constant rehabilitation and orthotic management as well as multiple surgical procedures involving the hips, knees and feet to restore mobility and functional ambulation.
  47. 47. Hip deformities  Hip contracures:  Contractures of the hip are present in nearly 90% of Arthrogryposis children  usually flexion contractures  Considerable controversy  Studies to date have not found pain to be a problem with these hips  Operative procedures have potential to worsen function if they produce significant contractures
  48. 48. Hip deformities  Moderate contracture severity (up to 30°):  Treatment may be limited to manipulations of contracted hip flexors and orthotic management.  Flexion contractures over 30–45° :  Usually require surgical correction as they impair mobilization and ambulation and result in increased compensatory hyperlordosis of the lumbar spine.  Surgical management involves releases (transection) of contracted soft tissues (including the rectus femoris and sartorius muscles, the iliopsoas muscle, and the hip joint capsule), or, in the older child, proximal femoral extension osteotomy.  Moderate abduction and external rotation hip contractures  Usually do not require surgical treatment as they actually improve stability during ambulation, whereas severe cases may require in corrective osteotomies
  49. 49. Hip deformities  Hip Dislocation:  Observed in 30% to 43%  The use of abduction orthotic devices, traction and closed reduction are unsuccessful and carry a risk of aseptic necrosis and/or femoral head deformation.  Unilateral dislocation :  Bracing, traction, casting – rarely helpful alone.  Open reduction (6mo-1yr)  Medial incision: best results but osteonecrosis  Anterior incision: stiffness  In the older child by proximal femoral directional osteotomy and acetabular reconstruction
  50. 50. Hip deformities  Bilateral Hip Dislocation:  Controversial  Non-operative: functional ambulation without pain  Operative: improved quality and efficiency  Medial approach  Spica cast 8-12 weeks  Supple hip that is dislocated is preferred to a stiff reduced hip.
  51. 51. Knee deformities  Knee contractures:  Observed in up to 85% of Arthrogryposis patients.  Include flexion and extension contractures.  Flexion Contractures (~50%)  Mild: <15°-20° , Stretching and physiotherapy.  20 ° - 40 °, surgery  Hamstring lengthening  Post-op splinting
  52. 52. Knee deformities  Moderate: 40 ° - 50 °, surgery  Z-plasty in popliteal fossa  Post-op serial cast changes  60° – 80°, surgery  Gradual correction  external fixation vs. femoral shortening.  Post-op serial casting and chronic bracing.  Sever: 80° - 90°, surgery  Soft tissue release and external fixator  Osteotomies for distal femoral extension  Internal fixation  Near skeletal maturity  Post-op splinting
  53. 53. Knee deformities  Extension Contractures:  Tight anterior capsule, hypoplasia of suprapatellar bursa, fibrosis of quadriceps  Percutaneous release of quadriceps tendon  V-Y plasty: quadriceps lengthening  Respond better to physical therapy and splinting
  54. 54. Foot and Ankle Deformities  Club feet:  Manipulation and serial casting (but generally resistant)  Surgical treatment at 6mo to 1 yr of age (before walking)  Aggressive soft tissue release, all tendons  Long term bracing, night bracing, ankle-foot orthosis  recurrence of up to 73% but more favored  talectomy remains an option
  55. 55. Foot and Ankle Deformities  Relapsed foot:  Talectomy  may cause Tibio calcaneal incongruity & loss of medial column  Progressive mid foot adduction if calcaneo cuboid joint not fused  Decancellation of cuboid and/or talus  Talus – maintains medial column and allows for easier triple arthrodesis later  Triple arthrodesis  Gradual correction with circular frame external fixator  wire transversely through distal tibial epiphysis and lock to tibial frame – prevent epiphyseal separation  95% can be made plantigrade with satisfactory outcome
  56. 56. Foot and Ankle Deformities  Vertical Talus Deformity:  In ~ 5%  Resistant to cast treatment  Surgical correction necessary  Anterior tibialis transfer to neck of talus  Permanent arch support necessary post-op  Subtalar fusion may be necessary in older patients  Triple arthrodesis may be necessary  Between 6 mo to 2 yrs
  57. 57. Timing of Management  2-3 month  Knee subluxation: closed reduction  4-5 month  Knee subluxation: soft tissue release  Clubfoot deformity: surgical correction  9-12 month  Hips dislocation(s): open reduction  Upper extremity splinting (may be from birth on)  3-4 years  Upper extremity surgery
  58. 58. THANK YOU