Arthrogryposis and Amyoplasia - Alpha Hand Surgery called autosomal dominant pterigium syndeome ! Pterigium in the neck, axilla, elbow and knee. Distal Arthrogryposis Type 9! Contractural

  • View

  • Download

Embed Size (px)

Text of Arthrogryposis and Amyoplasia - Alpha Hand Surgery called autosomal dominant pterigium syndeome !...

  • Arthrogryposis and AmyoplasiaTerence Tay

  • Terminology

  • 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

  • 8

  • 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

    whistling-face syndrome.

  • 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-

    Hoffmann disease)

  • 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

  • Treatment

  • ? 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

  • Steindler Flexorplasty

  • 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

    condition !

    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

  • Surgical technique

  • 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

  • Other technique

  • 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

    crutch walking

  • 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