Arthrogryposis and Amyoplasia

Mohammed T. Attiah, MDNovember 10th- 2003

Definition

• Arthrogryposis– Group of unrelated diseases with the common phenotypic

characteristic of multiple congenital joint contractures

• Amyoplasia “Symmetric contractures” = AMC– IR shoulder

– Extended elbow, flexed hand and wrist

– Knee “extended or flexed”

– Talipes equinovarus

– Dislocated hips….Stern WG: Arthrogryposis multiplex

congenita. JAMA 1923

Epidemiology & Etiology

• AG- 1:3,000 AP- 1:10,000

• Arthrogryposis is multifactorial etiology:– Fetal akinesia,Curare Injection. Drachman DB, Lancet 1962

– Viral infection, alkaloid ingestion

– Hyperthermia, Oligohydromanios, AHC defect, Myopathy

• Amyoplasia is sporadic ??“Genetic”

– Larsen’s syndrome

– Distal arthrogryposis type I & II

Differential Diagnosis

• Full H & P and limbs-spine x-ray

• Amyoplasia is relatively easy to recognize

• Spine x-ray “spinal dysraphism”

• CPK “Congenital M Dystrophy”

• CT brain “Structural brain anomalies”

• Chromosomal studies, experienced geneticist

• Muscle biopsy and EMG ??? myopathy

Amyoplasia

• Four limbs 84%

• Lower limbs 11%

• Upper limbs 5%

Sells JM,. Pediatrics 1996

• Joint have limited ROM, firm,and inelastic end point

• Trunk generally spared, although scoliosis 30%

Sarwark JF, J bone Joint Surg Am 1990

Amyoplasia

• Muscle mass

• Fusiform limbs

• Lack of normal skin creases over the joint

• Webbing across elbow & knees

• Skin dimpling on the extensor muscle

• Sensation N, DTR diminished or absent

• Midline facial hemangioma and micrognathia

• Inguinal hernia, cryptochridism

• Abdominal wall defect, Gastrochisis, Bowel atresia

General Management

• Overall function is related to – Family support

– Patient personality

– Education early efforts to foster independence Carlson WO,. Clin

Orthop 1985

• Parents “Walking”– Helps parents focus on factors that will substantially improve the

child’s function

– Upper extremities Vs Lower extremities

General Management

• Gentle stretching and ROM exercise

– Lightweight splinting “ acceptable joint position “

• Casting or ST release and casting

• Muscle transfer

– Nonfunctioning muscles ??

– Functioning muscles “ limited excursion “

• Osteotomy

– Skeletal maturity “Recurrence of the deformity “

Upper Extremity Deformities

• Provide an extremity that can be brought to the mouth and

stabilized for feeding and to provide for toilet care or

pulling up from sitting position

Williams PF, Clin Orthop 1985

• Where is the problem:

• Shoulder IR ? osteotomy

• Lack of active elbow flexion ± elbow extension contractures

Non-Surgical Treatment

• Passive stretching is most successful to obtain motion

– Shoulder, wrist and fingers are the most resistant

– Elbow stretching

• Mild change in ROM will substantially improve the ability to

– Dress

– Self-feed

– Personal hygiene

• Passive elbow flexion “TRICKS “

Surgical Management of the Upper extremity Deformities

• Defer most surgery until the patient is old enough to

demonstrate functional achievement

Lloyd-Roberts GC,,, J Bone Joint 1970

Elbow Contractures

• Elbow flexion < 90° with supervised elbow stretching

• Posterior capsulotomy with triceps lengthening

• Post-op passive elbow flexion maintained for two years

• Intra-articular incongruity ???

Van Heest A, J

Hand Surg 1998

Tendon Transfer Indications

– Age > 4– Lack of active flexion– Minimum of 90° passive elbow flexion– Ipsilateral hand motion – Absent contralateral active elbow flexion– Available donor muscle

• Triceps-to-biceps transfer gives most reliable results Van Heest A,. J Hand Surg

1998

Contraindication: Ambulate or transfer in lower limbs involved child

Complication: Elbow flexion contracturesCarroll RE,

JBJS 1970

Elbow Contractures

• P. Major transfer

– Best donor in the absence of triceps

– Large surgical scar “ sternum to anticubital fossa”

– Breast asymmetry

Schottstaedt ER, J Bone Joint

Surg 1955

• Steindler Flexorplasty

– Flexor tendon are weak

Doyle JR,. J Hand Surgery 1980

Wrist Deformities

• Early release and casting for wrist flexion contractures

– Wrist extensor are absent

– FCU only functioning muscle

• FCU transfer will give wrist extension

– Passive ROM “neutral”

– Quengel cast hinge

• PRC and tendon transfer

• Wrist fusion

Feet Deformities

• Rigid clubfeet

– Aggressive ST release “ not lengthening “ before walking

– Complete correction intra-op

– Long-term bracing, night bracing, AFO

– Recurrence rate 70%

Niki H, J Pediatr Orthop 1997

Relapsed Clubfoot

• Talectomy

– Primary procedures in severe cases

• Tibiocalcaneal incongruity

• Loss medial column

• Failed CC fusion-------- Midfoot Adduction

• Reduce ST -------Foot dorsiflexion

Green ADL, J Bone Joint Surg

[Br] 1984

Relapsed Clubfoot

• Verebelyi-Ogston procedure “ Talus Decancellation”

• Maintain medial column

• Avoid progressive midfoot adduction

• Easier triple Spires TD, J Pediatr Orthop 1984

Relapsed Clubfoot

• Circular-Frame Fixator

– Tech. Demanding, good results

– Trans-epiphyseal pin locked to the tibial frame “ Epi. separation”

– Incision parallel to the direction of distraction

Brunner R, J

Pediatr Orthop B 1997

Knee Deformities

• Most difficult

• FC > EC

• 50% FC pt = community walker

• 10% EC pt = community walker

Murray C, J Pediatr Orthop B

1997

Treatment of Knee Flexion Contractures

• Stretching

• Bracing

• Casting “ ? posterior tibia dislocation”

• Quengel hinge

• Point of rotation

• Tibia move forward with extension

Treatment of Flexion Contractures “Surgical”

• Posterior ST release ± shortening osteotomy– Muscles planes “ fibrous dens cord “

– No tornique “ facilitate vascular dissection”

– II incision PM & PL, avoid S-incision

• Anterior release – PF adhesion “Rug under the door”

– Medial patellar incision

– Gradual correction

– Full correction….. ??NV structure

– Hyperextension = Hypertension

Recurrent Knee contractures

• Supracondylar extension osteotomy ± shortening

– Immediate correction

– Dog leg-type deformity

– Cosmetically unacceptable

– Recurrence 1°/month in Sk immature patients

DelBello DA, J Pediatr Orthop

1996

Knee Extension Contractures

• Walk well

• Sitting difficulty

• Difficulty rising from a chair

• Treatment:

– Quads percutaneous release + casting

– Quadricepslasty + Knee open reduction

Hip Deformities

• Hip problems in arthrogryposis 65-80%

• Flexion contractures common, dislocation 15-30%

Sarwark JF, J Bone Joint Surg Am 1990

• Hip FC ----Lumbar lordosis

• ER contractures “Do not correct” = gait stability

• Hip FC > 45° ---- surgical release

Hip Dislocation

• Teratologic

• Poor results with CR

• Options

• Acceptance of dislocation

• Open reduction “ medial or anterior “

• well-performed open reduction

– Redislocation, stiffness, and AVN

Szoke G, J Pediatr Orthop 1996

Cruel CR, J Pedaitr Orthop 1986

Twenty-Years F/U of Hip Problems in Arthrogryposis Multiplex Congenita, Peter W.P. Yau, JPO 2002, Hong Kong

• Unilateral hip dislocation

– Openly reduced hips are stiffer

• 121° Vs 103°

– Long term hip function score was comparable

• 69 Vs 73; P= 0.174

Hip Dislocation

• Unilateral dislocation should perform open reduction 6-12

• Best results with medial approach Szoke G, J Pediatr Orthop

1996

Cruel CR, J Pedaitr Orthop

1986

• Bilateral dislocation ??????

– Supple hip that is dislocated is preferable to a reduced but stiff hip

Spine Deformities

• Scoliosis 30-67%

• Poor prognosis for progression:– Early curve onset

– Paralytic curve pattern

– Pelvic obliquity

• Quiet stiff curve

• Posterior fusion = 35% correction

• Post + Ant. = 44% correction

• Pseudo-arthrosis 15- 30%

Yingsakmongkol W, J Pediatr Orthop 2000

Arthrogryposis

• Hips & Foot deformities

– Early and aggressive with surgical treatment

Arthrogryposis

• Knee deformities

– Be cautious with surgical treatment

Arthrogryposis

• Upper extremity deformities

– Be very careful with the surgical treatment

Thank You