Arthrogryposis multiplex congenita

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Text of Arthrogryposis multiplex congenita

Arthrogryposis Syndrome

ARTHROGRYPOSIS MULTIPLEX CONGENITADr: Naveed jumaniResident department of orthopedic surgery Liaquat national hospital

INTRODUCTIONTerm arthrogryposis, derived from the Greek and means bent joint

1st depicted in 1841 by A.W. Otto, then called congenital myodystrophySubsequently termed multiple congenital contractures by Schantz in 1897,Arthrogryposis by RosenkranzArthrogryposis Multiplex Congenita term coined by WG Stern in 1923Scheldon in 1932 described clinical features of congenital multiple contractures in a child and used for the first time the name amyoplasia congenitaOther terms were amyoplasia congenita and congenital arthromyodysplasia

DefinationThe 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 Considerably1:3,000 Canada3: 10,000 Finland1:56,000 Edinburgh2:1 male to female

Halls Classification of AMCPrimarily Limb Involvement

Limb involvement+ other body areas

Limb + CNS involvement

EtiologyIt 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.

PATHOGENESISDivided intoIntrinsic factors

Extrinsic factors

Intrinsic FactorsIntrauterine Vascular CompromiseSevere bleedingFailed terminationMonozygotic twinsAmniotic Bands

Intrinsic FactorsMaternal ConsiderationsMultiple SclerosisDiabetes MellitusMyasthenia GravisMaternal InfectionMaternal HyperthermiaDrug ExposureMyotonic Dystorphy

Intrinsic FactorsNeurologic DeficitDisorders of CerebrumAnterior Horn Cell deficiencyAbnormalities of nerve function or structure(central and peripheral)

Intrinsic FactorsMuscle DefectsMuscles abnormally formed (caused by a defect of myogenesis-regulating genes resulting in abnormal development of myocytes) orabnormal function (troponin I, -actinin 3 gene mutations) or mitochondrial cytopathy(e.g. congenital muscular dystrophy, mitochondrial disorders)

Intrinsic FactorsConnective Tissue/Skeletal DeficitPrimary disorder of joint/connective tissueIn 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

Extrinsic FactorsIntrauterine mechanical obstructionFetal crowding: multiple birthsOligohydramniosUterine myomasAmniotic bandsTrauma

Genetics of arthrogryposisArthrogryposis is a group of clinical symptoms that can be observed in many different genetic syndromes;SporadicSingle-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.

Approach to diagnosisFamily history Pregnancy history Delivery history Physical exam Multidisciplinary Team

Family historyAffected 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.

Pregnancy historyInfants 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

Delivery HistoryTraumatic 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

Clinical featuresAmyoplasia 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 normalThe muscle tissue is often replaced with fatty and fibrous tissues

Upper limbShoulder 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 .

Upper limbWrist 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 movementsIn syndromic arthrogryposis clenched fist with thumb in palm deformities may be observed.

Lower limb HipMostly 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.

Lower limbAnkle joint And FootThese 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

Extra skeletal manifestationsFacial skeleton Hypoplasia of the mandible (micrognathia).Contracture and limited function of temporo-mandibular joints.Extraskeletal clinical signs and symptomsNormal intelligenceHemangioma on the forehead. Abdominal wall abnormalities(inguinal hernia or gastroschisis)Varying abnormalities of the reproductive.

Distal ArthrogryposisInheritance is autosomal dominantContractures 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 Bamshad10 types of distal arthrogryposis had been described

Classification of Distal ArthrogryposisICharacteristic 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.IIThe 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.

Classification of Distal ArthrogryposisIIIAlso known as Gordon's syndrome, this rare syndrome is characterized by low stature and palatoschisisIVRare. Contractures with severe scoliosisVContractures 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 hypertensionVISimilar to DA3, DA4; very rare, characterized by sensorineural auditory abnormalitiesVIIDifficulties in mouth opening (trismus) and pseudocamptodactyly: wrists position in palmar flexion with MCP joints in extension. Sometimes accompanied by low stature and knee flexion contracturesVIIIAutosomal dominant multiple pterygium syndromeIXBeals syndrome, i.e. congenital arachnodactyly with contractures of small joints of the fingers