ARTHROGRYPOSIS MULTIPLEX CONGENITA
DR: NAVEED JUMANIRESIDENT DEPARTMENT OF ORTHOPEDIC SURGERY LIAQUAT NATIONAL HOSPITAL
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
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
Hall’s Classification of AMC
1. Primarily Limb Involvement
2. Limb involvement+ other body areas
3. Limb + CNS involvement
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.
PATHOGENESIS
Divided into Intrinsic factors
Extrinsic factors
Intrinsic Factors
Intrauterine Vascular Compromise Severe bleeding Failed termination Monozygotic twins Amniotic Bands
Intrinsic Factors
Maternal Considerations Multiple Sclerosis Diabetes Mellitus Myasthenia Gravis Maternal Infection Maternal Hyperthermia Drug Exposure Myotonic Dystorphy
Intrinsic Factors
Neurologic Deficit Disorders of Cerebrum Anterior Horn Cell deficiency Abnormalities of nerve function or structure
(central and peripheral)
Intrinsic Factors
Muscle Defects Muscles abnormally formed (caused by a defect of myogenesis-
regulating genes resulting in abnormal development of myocytes)
orabnormal function (troponin I, α-actinin 3 gene mutations) or
mitochondrial cytopathy(e.g. congenital muscular dystrophy, mitochondrial disorders)
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
Extrinsic Factors
Intrauterine mechanical obstruction Fetal crowding: multiple births Oligohydramnios Uterine myomas Amniotic bands Trauma
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.
Approach to diagnosis
Family history Pregnancy history Delivery history Physical exam Multidisciplinary Team
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.
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
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
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
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 .
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.
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.
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
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.
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
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.
Classification of Distal ArthrogryposisIII Also known as Gordon's syndrome, this rare syndrome is characterized by low stature and palatoschisisIV Rare. Contractures with severe scoliosisV 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 abnormalitiesVII 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 syndromeIX 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
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
Popliteal Pterygia
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.
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.
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
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
Investigations
Imaging Studies: Radiographs Ultrasonography CT scan MRI
Other Tests: Skin biopsy Muscle biopsy Distinguish myopathic from neuropathic conditions Electromyography (EMG) Nerve conduction tests
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.
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
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
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
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
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.
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%
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
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
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
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.
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
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.
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
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
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
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.
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
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
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
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
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
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
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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