Arthrogryposis and amyoplasia
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Arthrogryposis and Amyoplasia. Mohammed T. Attiah, MD November 10 th - 2003. Definition. Arthrogryposis Group of unrelated diseases with the common phenotypic characteristic of multiple congenital joint contractures Amyoplasia “Symmetric contractures” = AMC IR shoulder

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Arthrogryposis and amyoplasia

Arthrogryposis and Amyoplasia

Mohammed T. Attiah, MD

November 10th- 2003


Definition

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

Epidemiology & Etiology

  • AG- 1:3,000AP- 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

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

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


Amyoplasia1

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

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 management1

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

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 positionWilliams PF, Clin Orthop 1985

  • Where is the problem:

    • Shoulder IR ? osteotomy

    • Lack of active elbow flexion ± elbow extension contractures


Non surgical treatment

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

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 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

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 childComplication: Elbow flexion contracturesCarroll RE, JBJS 1970


  • Elbow contractures1

    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 weakDoyle JR,. J Hand Surgery 1980


    Wrist deformities

    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

    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

    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 clubfoot1

    Relapsed Clubfoot

    • Verebelyi-Ogston procedure “ Talus Decancellation”

      • Maintain medial column

      • Avoid progressive midfoot adduction

      • Easier triple Spires TD, J Pediatr Orthop 1984


    Relapsed clubfoot2

    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

    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

    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

    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

    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

    Knee Extension Contractures

    • Walk well

    • Sitting difficulty

    • Difficulty rising from a chair

    • Treatment:

      • Quads percutaneous release + casting

      • Quadricepslasty + Knee open reduction


    Hip deformities

    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

    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


  • Arthrogryposis and amyoplasia

    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 dislocation1

    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

    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

    Arthrogryposis

    • Hips & Foot deformities

      • Early and aggressive with surgical treatment


    Arthrogryposis1

    Arthrogryposis

    • Knee deformities

      • Be cautious with surgical treatment


    Arthrogryposis2

    Arthrogryposis

    • Upper extremity deformities

      • Be very careful with the surgical treatment


    Arthrogryposis and amyoplasia

    Thank You


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