arthrogryposismultiplexcongenita-MBBS.pptx

arthrogryposis multiplex congenita

1. ARTHROGRYPOSIS MULTIPLEX CONGENITA

2. INTRODUCTION Term arthrogryposis , derived from the Greek and means “bent joint” 1st depicted in 1841 by A.W. Otto, then called congenital myodystrophy S ubsequently termed “multiple congenital contractures” by Schantz in 1897 , A rthrogryposis ” 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. 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. Hall’s Classification of AMC Primarily Limb Involvement Limb involvement+ other body areas Limb + CNS involvement

5. Etiology I t 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. PATHOGENESIS Divided into Intrinsic factors Extrinsic factors

7. Intrinsic Factors Intrauterine Vascular Compromise Severe bleeding Failed termination Monozygotic twins Amniotic Bands

8. Intrinsic Factors Maternal Considerations Multiple Sclerosis Diabetes Mellitus Myasthenia Gravis Maternal Infection Maternal Hyperthermia Drug Exposure Myotonic Dystorphy

9. Intrinsic Factors Neurologic Deficit D isorders of Cerebrum Anterior Horn Cell deficiency Abnormalities of nerve function or structure ( central and peripheral)

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. 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. Extrinsic Factors Intrauterine mechanical obstruction Fetal crowding: multiple births Oligohydramnios Uterine myomas Amniotic bands Trauma

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. Approach to diagnosis Family history Pregnancy history Delivery history Physical exam Multidisciplinary Team

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. 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. 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. Clinical features Amyoplasia or classic arthrogryposis : A – absence, myo – muscle, plasia – development(non-development of muscles). It  is a sporadic multiple contractures syndrome. U sually 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. Upper limb Shoulder A dducted and internally rotated. Deltoid muscle function is deficient. Elbow E xtension 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. Upper limb Wrist C haracteristic palmar flexion contracture with ulnar deviation and pronation of the hand. Patients with myogenic arthrogryposis may present with extension contracture of the wrist. Hand F lexion 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. 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. Lower limb Ankle joint And Foot These deformities are observed in nearly all arthrogryposis patients . S evere talipes equinovarus (most common). L ess frequently vertical talus observed. T hese 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. 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. 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

25. Investigations Imaging Studies: Radiographs Ultrasonography CT scan MRI Other Tests: Skin biopsy Muscle biopsy Distinguish myopathic from neuropathic conditions Electromyography (EMG) Nerve conduction tests

26. 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 .

27. 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

28. 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

29. 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

30. 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

31. 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

32. 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

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