Neuromuscular

Arthrogryposis - management

Arthrogryposis multiplex congenita: contracture patterns, releases, casting and early mobilisation

10 questions 1 source pages 1 images

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Q1How does arthrogryposis present and what does the neurological examination indicate?📷▸

Non-progressive congenital disease with limited movement involving 2 or more joints
Limbs: tubular, fusiform, featureless, without skin creases
Positions: pronated forearm, extended elbow, hand in palm; FABER, foot deformity
UL: shoulder abducted, IR, elbow extended, wrist UD + flexed, fingers flexed at MCPJ and IPJ, thumb adducted (in palm)
Normal neuro exam: amyoplasia, distal arthrogryposis, generalised connective tissue disorder or fetal crowding
Abnormal neuro exam: diminished in-utero movement due to abnormal CNS, PNS, motor endplate or muscle

Q2What are the other manifestations of arthrogryposis?▸

Upper extremity deformity
Teratologic hip subluxation and dislocation
Knee contractures
Foot: clubfoot, vertical talus
Possible: DDH, dislocated knee, clubfoot
Neuromuscular C-shaped scoliosis 33%; fractures 25%
Extraskeletal: haemangioma on forehead, abdominal wall anomalies (inguinal hernia, gastroschisis)

Q3How is arthrogryposis assessed and what is the natural history?▸

Diagnosis: EMG, muscle biopsy, enzyme study, genetic study
X-ray spine and pelvis
MDT: paediatrician, ortho, geneticist, physio, P&O, psychologist
Normal face, IQ and normal life expectancy
Aim: increase joint mobility and muscle strength to develop adaptive use patterns that allow for walking and independence with ADLs
25% non ambulatory

Q4What is the aetiology and what are the forms of arthrogryposis?▸

1 in 3000 births; the direct factor causing akinesis is unknown
Intrinsic causes: myopathic, neuropathic, fibropathic (neurogenic 90%, myopathy)
Extrinsic: decreased IU movement, IU infection, oligohydramnios, multiple pregnancy, amniotic bands
Maternal disease: diabetes, myasthenia gravis
Sporadic Arthrogryphosis multiplex congenita (4 limbs); distal arthrogryphosis
Larsen (4 limbs, knee dislocation, clubfoot)
Freeman Shelton (hand, foot, scoliosis + face (microstomia))
Pteryrium syndrome (flexor web)

Q5What is amyoplasia?▸

Classic form of AMC: sporadic multiple contracture syndrome
Symmetrical involvement of multiple UL and LL joints; CNS normal
Muscle tissue replaced by fibrofatty tissue; most commonly seen form
1 in 10,000 births, 30% of all congenital contractures
Types: I localised; II full expression (thin limbs, elbows extended, wrists flexed and ulnarly deviated, intrinsic plus hands, adducted thumbs); III adds polydactyly

Q6What are the Drummond principles of operative management?▸

Deformity recurrence is common - dense inelastic soft tissue does not elongate with growth
Regain muscle balance if muscle is functional
Delay osteotomy until maturity
Maximal correction by surgery (tenotomies + capsulectomies) as conservative treatment is ineffective
Shortening procedure if recurrence (e.g. talectomy)

Q7What are the limb positions and associated deformities in arthrogryposis?▸

Upper limb: shoulder abducted and internally rotated, elbow extended, wrist ulnar deviated + flexed, fingers flexed at MCPJ and IPJ, thumb adducted (in palm)
Lower limb: hip flexed, externally rotated, abducted (FABER), knee flexed (contracture), equinus
Also check the spine for scoliosis; possible DDH, dislocated knee, clubfoot; normal face and IQ

Q8What are the upper limb operative options in arthrogryposis?▸

IR contracture of shoulder: external humeral rotational osteotomy
Elbow extension contracture preventing hand to mouth: posterior capsulotomy and triceps lengthening
Wrist: dorsal carpal wedge osteotomy +/- FCU transfer to preserve arc of motion
Correction of the thumb-in-palm deformity

Q9How is hip involvement in arthrogryposis treated?▸

Unilateral: operative reduction (OR)
Bilateral: controversial - used to be conservative, now a trend towards sequential reduction

Q10What is the role of physiotherapy in arthrogryposis?▸

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