Arthrogryposis and AmyoplasiaTerence Tay
Arthrogryposis Syndrome of non progressive joint
contractures present at birth multiple congenital joint contractures !
arthrogryposis multiplex congenita (AMC) Stern WG: Arthrogryposis multiplex congenita. JAMA
Arthrogryposis Encompasses a broad spectrum of
diseases, common phenotype of multiple congenital contractures
Amyoplasia (A= no; myo=muscle; plasia=growth)
Distinct form of arthrogryposis !
Described by Hall et al ! characterized by quadrimelic involvement
and replacement of skeletal muscle by dense fibrous tissue and fat
Amyoplasia may not specifically describe one single group
of patients -sacral agenesis :-form of primary segmental amyoplasia in which there is an absence or greatly reduced number of muscle fibers in an otherwise normal extremity -a decrease in anterior horn cells and white matter, indicating a primary neurogenic cause, has been documented in the autopsy results of a patient with amyoplasia
Epidemiology Multiple congenital pathologic
contractures (arthrogryposis),occur in about 1 of every 3,000 live births
amyoplasia occurs in 1 of every 10,000 live births
InheritanceMay be inherited in several patterns Autosomal dominant Autosomal recessive X-linked recessive Sporadic Mitochondrial Can be caused by single gene defects
Etiology Fetal akinesia (limited fetal movement)
seems to be a common element in the development of most types of arthrogryposis
-oligohydramnios, tight package
Freeman-Sheldon syndrome Has characteristic facial
features and condition affecting hands and feet !!
Beals syndrome Contractural
arachnodactyly with PIPJ flexion contractures
Upper limb Shoulder- adducted, internally rotated Elbow extended Wrist flex and ulnar deviated Fingers- flex and thumb adducted
Lower limb Hip- adducted and flexed (30%- dislocated) Knee- flexed or extended/ dislocated Foot- equinovarus, congenital vertical talus
General appearance Scoliosis- 30% Muscle mass reduced Fusiform limb with no skin crease over joint Webbing across joint Loss of deep tendon reflexes
Other things need to look for.. Hypoplasia of labial fold Inguinal hernia Crytorchism Abdominal wall defect Bowel atresia gastroschisis
Distal arthrogryposis group of inherited diseases that primarily
involve the hands, feet, or both
Distal Arthrogryposes group of autosomal dominant disorders
that mainly involve the distal parts of the limbs !
Categorized into 9 different groups Classified by Hall et al and Goldberg and
later Bamshad et al
Distal Arthrogryposis Type 1 (DA1)
characterized largely by camptodactyly and clubfoot
The shoulders and hips are less frequently affected.
Isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist..
Distal Arthrogryposis Type 2 (DA2)
phenotypically similar to a condition called Freeman-Sheldon syndrome
characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face
Distal Arthrogryposis Type 5 (DA5)
individuals have ocular abnormalities ptosis, restricted movement of the
extraocular muscles, and/or strabismus !
pulmonary hypertension as a result of restrictive lung disease *recent findings
Distal Arthrogryposis Type 7 (DA7)
trismus-pseudocamptodactyly syndrome, TPS
shortened hamstring muscles and short stature
Distal Arthrogryposis Types 3, 4, and 6 (DA3, DA4, and DA6)
Very rare DA3, or Gordon syndrome , is
distinguished from other distal arthrogryposes by short stature and cleft palate. Hearing impairment
DA4 has scoliosis, torticollis and cervical vertebrae fusion
DA6 has sensorineural hearing loss
Distal Arthrogryposis Type 8 Also called autosomal dominant pterigium
syndeome Pterigium in the neck, axilla, elbow and
Distal Arthrogryposis Type 9 Contractural aracnodactyly or Beal
Central Nervous System Causes of Arthrogryposis Developmental abnormalities affecting
the forebrain (e.g., hydranencephaly, microcephaly, or forebrain neuronal migration disorders), !
joint contractures are probably due to diminished corticospinal tract activation of spinal cord motor neurons
Example of neurological causes X-linked spinal muscular atrophy, a
progressive motor neuron disease infantile spinal muscular atrophy (Werdnig-
Neuromuscular Causes of Arthrogryposis Neuromuscular junction blockade in
fetuses carried by mothers with myasthenia gravis
Congenital myopathies- mutations of genes that encode fetal skeletal-muscle myosin heavy chains !
Electromyography is useful
? Fixed Joint Contracture
? Distal Arthrogryposis
General Management Individualized to each childs needs Goals Independent function i.e. for feeding Increase ROM !Team approach between physicians and therapists
Non operative treatment Frequent passive movement of
all involved joints for increased mobilization
Use of static progressive splints Serial casting Orthotics These are most effective for
distal contractures, and not usually effective for contractures in amyoplasia
Surgical Management Recommended for fixed joint contractures
that preclude or interfere with upper-limb function
Timing of surgery is controversial Usually recommended before 4-5 years of
age to minimize compensatory movements and maximize school function
Surgical correction of elbow contracture
J Hand Surg 2012;37A:10781082. Copyright 2012 by the American Society for Surgery of the Hand. All rights reserved
Introduction Loss of elbow flexion limits in function like
feeding and self care !
Any surgery is dependent on preoperative level of contracture and limb function
Selection of patient Young patient, good triceps function Pre op elbow flexion beyond 45 degree !
When conservative management fails..
Surgical technique for posterior elbow release and humeral osteotomy
First part of surgery 1. Release of posterior elbow Posterior skin incision Locate the ulnar nerve and preserve
Incise the tendon of the triceps in a distally based, V-shaped incision just distal to the musculotendinous junction.
Release posterior capsule Take care not to release the main bands
of the medial or lateral collateral ligaments
2nd part of surgery2. Humeral external rotational osteotomy- only when there is internal rotation of shoulder elevate the triceps extraperiosteally off the
humerus in a medial to lateral direction, exposing the distal half of the medial diaphysis and the posterior and medial metaphysis
Perform a transverse osteotomy
3rd part of surgery3. Closure Repair the triceps in a lengthened position
in a V-to-Y fashion with non absorbable braided suture
Cast for 3-4 weeks and start active ROM
Able to achieve passive elbow flexion Shoulder in good position to optimize hand
to mouth function
The Steindler Flexorplasty for theArthrogrypotic Elbow Charles A. Goldfarb, MD, Michelle S. Burke, BS, William B. Strecker, MD, Paul R. Manske, MD, St Louis, MO
Steindler flexorplasty Initially decribed to treat paralytic
Transfer the proximal osseous origin of the wrist and finger flexor from medial epicondyle to more proximal and lateral to the humerus !
Mayer and Green
Steindler flexorplasty Flexor pronator muscle identified !
small wafer of the bony/cartilaginous medial epicondyle is separated in continuity with the muscle mass
Eight elbows were treated with screw fixation; 4 with heavy, nonabsorbable sutures; 3 with metal sutures; and 2 with K-wire fixation
Post op Place in posterior splint that block
extension but allow passive flexion exercise for 4 weeks
Start active ROM at 6weeks and strengthening at 3 months
Criticism about this technique Insufficient strength Limit elbow extension and supination Increased in wrist and finger flexion
Tendon transfer Triceps to Biceps Transfer Pectoralis to Biceps Transfer Latissimus Dorsi to Biceps Transfer
Triceps to biceps transfer Triceps can be transferred with minimal
morbidity because gravity can assists elbow extension
Muscle strength of grade 4 Van Heest et al, Williams Lack of power in extension can prohibits
Pectoralis to Biceps Transfer
Unipolar vs bipolar transfer not always aesthetically pleasing !- unipolar transfer adducts the arm
substantially and creates an abnormally large anterior axillary fold !
- bipolar transfer is a more complex procedure that deprives the arm of an adductor and can lead to significant scarring
Latissimus Dorsi to Biceps Transfer
Similar fashion with bipolar pecto