Clean FRCS notes with inline figures
Tubular, fusiform, featureless without skin crease
•Upper limb position (e.g. pronated forearm, extended elbow, hand in palm)
•Lower limb position (e.g. FABER, foot deformity)
•Also check the spine for scoliosis
•Arthrogryposis
•Definition: non progressive congenital disease with limited movement involving 2 or more joints
•Symptom, rather than syndrome
Examination
Neurological examination
•Normal exam suggests that arthrogryposis is due to amyoplasia, distal arthrogryposis, generalized connective tissue disorder or fetal crowding
•Abnormal neuro indicates that movement in utero was diminished, as a result of abnormal CNS, PNS or motor endplate or muscle
•Gait
•Assess contracture
Other manifestations:
•Upper extremity deformity
•Teratologic hip subluxation and dislocation
•Knee contractures
•Foot (clubfoot, vertical talus)
•Neuromuscular C shaped scoliosis 33%
•Fractures 25%
•→ Check extraskeletal manifestations: hemangioma on forehead, abdominal wall anomalies e.g. inguinal hernia/ gastroschisis
Diagnosis: EMG, muscle biopsy, enzyme study, genetic study
XR spine and pelvis
Management
MDT approach (pediatrician, ortho, geneticist, physio, P&O, psychologist)
Natural history: normal IQ, life expectancy normal
•Aim: is to increase joint mobility and muscle strength → to develop adaptive use patterns that allow for walking and independence with ADLs
•UL for self care and assistance in ambulation
•LL for mobilization (25% non ambulatory)
Non operative management:
•Physio (passive range will improve, active range and muscle power will not)
Operative management:
Drummond principle
•Deformity recurrence is common
•Because of dense inelastic soft tissue that does not elongate with growth
•Tenotomies + capsulectomies on concave side then plaster and prolonged orthotic support to at least delay recurrence
Maximal correction by surgery
•Wedging and corrective casts no use
•UPPER limb
•IR contracture of shoulder - external humeral rotational osteotomy
•Inability to reach the head hand to the mouth due to elbow extension contracture - posterior capsulotomy and triceps lengthening
•Wrist dorsal carpal wedge osteotomy with a possible FCU transfer to preserve arc of motion
•Correction of thumb in palm deformity
Hips:
•Unilateral – OR
•Bilateral – controversial, used to be conservative, now trend towards sequential reduction
Prognosis:
•25% non ambulatory
•1 in 3000 births
•Direct etiological factor causing akinesis unknown
•Intrinsic (neurogenic 90%, myopathy)
•Extrinsic causes (IU infection, decrease IU movement, oligohydramnios, multiple pregnancy, amniotic bands)
•Maternal disease: DM, MG (?serum antibodies inhibiting fetal ACh receptors leading to decreased number of anterior horn cells)
•Vascular or nutritional disorder
Types / forms:
•Arthrogryposis multiplex congenita AMC (amyoplasia)
•Distal arthrogryposis
•Syndromal (Larsen syndrome, Freeman Sheldon syndrome)
•Neurogenic (myelomeningocele, spinal muscular atrophy)
•AMC Arthrogryposis multiplex congenita
•Heterogenous group of disorders with multiple congenital contractures
Classic form = Amyoplasia
•Sporadic multiple contracture syndrome
•Symmetrical involvement of multiple joints in UL and LL
•CNS normal
•Muscle tissue replaced by fibrofatty tissue
•Most common form
•1 in 10000 birth, 30% of all congenital contractures
Classification
Type I: single localised deformity
•Eg forearm pronation
Type II: full expression
•Absence of shoulder muscles
•Thin limbs
•Elbows extended
•Wrists flexed and ulnarly deviated
•Intrinsic plus deformity of the hands
•Adducted thumbs
•No flexion creases
Type III: full expression
•As per type II
•+ polydactyly
•And involvement of non-neuromuscular systems