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

1923;81:1507-1510.

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

knee

Distal Arthrogryposis Type 9� Contractural aracnodactyly or Beal

syndrome

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 child’s 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:1078–1082. 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 pectoralis transfer

� Good ROM arc and no flexion contracture -reported by Van Heest el al � hypoplastic in some cases of

arthrogryposis

Literature review of all technique

Capsular release and triceps lengthening

Triceps to biceps transfer

Pectoralis transfer

Steindler flexorplasty

Arthrogryposis Wrist and hand

Classical features � symmetric positioning of the limbs � wrist flexion, and hand ulnar

deviation � digits are postured in flexion and

are stiff � contracted clasped thumb � devoid of skin creases, muscle

wasting, paucity of skin crease

Treatment� Non surgical management !

� passive movement of all involved joints !

� Static progressive splinting and prolonged stretch

Surgical treatment� timing of surgery � proximal row carpectomy � dorsal wedge osteotomy of the distal

radius or mid-carpus, � soft tissue distraction � arthrodesis

Dorsal Carpal Wedge Osteotomy in theArthrogrypotic Wrist

Ann E. Van Heest, MD, Rudy Rodriguez, MDJ Hand Surg 2013;38A:265–270. Copyright © 2013 by the American Society for Surgery of the Hand

Surgical technique� Ezaki and Carter

� A dorsal wedge osteotomy at the level of the midcarpus

!� place with 2 cross K-wires !

� May be coupled with tendon transfer, ECU, ECRB

After surgery� The limb is immobilized in a long arm splint

for 6 weeks !

� The osteotomy site is protected with intermittent wearing of a splint for a minimum of 3 months

Arthrogryposis� describe position of limb � single or multiple joints � distal or proximal involvement or both � presence of webbing, joint crease, muscle

bulk � look for associated syndrome eg beals,

freeman- sheldon, etc by checking for archnodactyly, ocular involvement, whistling facies

95

Conclusion� Identify the problem � Think of non surgical management first !

� Surgical treatment come last

Thank you