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ARTHROGRYPOSIS MULTIPLEX CONGENITA
DR: NAVEED JUMANI
RESIDENT DEPARTMENT OF ORTHOPEDIC SURGERY
LIAQUAT NATIONAL HOSPITAL
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
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.
3: 10,000 Finland
2:1 male to female
Hall’s Classification of AMC
1. Primarily Limb Involvement
2. Limb involvement+ other body areas
3. Limb + CNS involvement
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.
Disorders of Cerebrum
Anterior Horn Cell deficiency
Abnormalities of nerve function or structure
(central and peripheral)
Muscles abnormally formed (caused by a defect of myogenesis-regulating
genes resulting in abnormal development of myocytes)
abnormal function (troponin I, α-actinin 3 gene mutations) or
(e.g. congenital muscular dystrophy, mitochondrial disorders)
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
Genetics of arthrogryposis
Arthrogryposis is a group of clinical symptoms that can be observed in many different genetic
Single-gene mutations (e.g. autosomal dominant, autosomal recessive and X-linked recessive inheritance
Chromosomal disorders (e.g. trisomy 18) such as deletion, translocation, or duplication, and mitochondrial
Approach to diagnosis
Affected children/family members (hyperextensibility, dislocated joints, dislocated
hips, and clubfeet).
Incidence of congenital contractures 2° and 3° relatives.
Intrafamilial variability (parent may be affected very mildly or may have had
contractures early in infancy)
Review previous miscarriages or stillbirths.
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.
Contractures, bleeding, trauma, hypoxia
Traumatic delivery in about 5-10% of cases.
Abnormal placenta, membranes, or cord insertion in case of amniotic bands or
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
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
Adducted and internally rotated.
Deltoid muscle function is deficient.
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 .
Characteristic palmar flexion contracture with ulnar deviation and pronation of the hand.
Patients with myogenic arthrogryposis may present with extension contracture of the wrist.
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.
Mostly flexion, abduction, and external rotation contractures of varying degrees of
Unilateral or bilateral hip dislocation is observed in approximately 1/3 of patients.
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
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.
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
Hemangioma on the forehead.
Abdominal wall abnormalities(inguinal hernia or gastroschisis)
Varying abnormalities of the reproductive.
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 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
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
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.
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
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
Viral titers (eg, coxsackievirus, enterovirus, Akabane virus)
Maternal antibodies to neurotransmitters in the infant may indicate myasthenia gravis.
Fibroblast chromosome study
Nuclear DNA mutation analysis
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
In order to achieve these goals, management must be initiated as early as
possible, and optimally in the neonate and infant.
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
At birth Gentle stretching and ROM exercises
Passive stretching exercise followed by serial splinting with custom made
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
Outcomes better if joint surgery is done early, before adaptive intraarticular
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
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.
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%
Volar flexion and ulnar deviation
Splinting shortly after birth
For fixed wrist contractures interfering with function
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
Finger Flexion Contractures
Physioherapy and splinting.
Surgery • Release of proximal intraphalangeal joint contractures not helpful for function
At skeletal maturity
Z-plasty: release of adductor pollicis
First metacarpal osteotomy
First metacarpophalangeal joint arthrodesis
Brachioradialis to thumb extensor transfer
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.
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
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
Contractures of the hip are present in nearly 90% of Arthrogryposis children
usually flexion contractures
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
Moderate contracture severity (up to 30°):
Treatment may be limited to manipulations of contracted hip flexors and orthotic
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
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
Bilateral Hip Dislocation:
Non-operative: functional ambulation without pain
Operative: improved quality and efficiency
Spica cast 8-12 weeks
Supple hip that is dislocated is preferred to a stiff reduced hip.
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
Moderate: 40 ° - 50 °, surgery
Z-plasty in popliteal fossa
Post-op serial cast changes
60° – 80°, surgery
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
Near skeletal maturity
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
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
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
Gradual correction with circular frame external fixator
wire transversely through distal tibial epiphysis and lock to tibial frame – prevent epiphyseal
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
Knee subluxation: closed reduction
Knee subluxation: soft tissue release
Clubfoot deformity: surgical correction
Hips dislocation(s): open reduction
Upper extremity splinting (may be from birth on)
Upper extremity surgery