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Great Ormond Street Hospital for Children NHS Trust UCL Institute of Child Health
 

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Arthrogryposis NEEDS REVIEW

This clinical guideline was due to for review on 1 July 2009 and therefore may not reflect current practice at Great Ormond Street Hospital. This guideline is for reference only. For advice on current practice please contact Catherine De Vile.

Background

Definition

Arthrogryposis, or arthrogryposis multiplex congenita, comprises a variety of conditions characterized by multiple joint contractures found throughout the body at birth. The condition occurs in 1/3000 live births. Prognosis depends on the underlying cause, but most have a normal lifespan. If there is a CNS problem in addition however, about 50% of patients die in the first year.

Causes

Over 150 different syndromes may cause this symptom complex, therefore careful history and examination is important to try to elucidate the underlying cause. Most cases are sporadic but there may be an underlying genetic condition including autosomal dominant and recessive, X linked, and mitochondrial. There may be chromosomal abnormalities such as 45X, 47 XXY or trisomies, especially when associated with CNS abnormalities.

In general causes may be:

Fetal

a. Neurogenic e.g. myelomeningocele, sacral agenesis, spinal muscular atrophy (anterior horn cell disease of prenatal origin (SMA 0), not Wernig Hoffman (SMA 1) usually; congenital contracture syndrome- lethal), cerebrooculofacial syndrome, Marden Walker syndrome, Pena- Shokeir syndrome, segmental spinal cord

b. Muscular e.g. congenital muscular dystrophy, congenital myopathies (central core, nemaline), myasthenic syndromes, intrauterine viral myositis, mitochondrial disorders

c. Connective tissue disease e.g. diastrophic dysplasia, metatropic dwarfism, osteochondroplasia

d. Mechanical limitations to movement e.g. oligohydramnios in Potter’s syndrome/ multiple births.

Maternal

a. Infections: rubella, coxsackie, enterovirus

b. Drugs e.g. alcohol, methocarbamol, phenytoin

c. Trauma

d. Intrauterine vascular compromise

e. Uterine abnormality e.g. fibroid/ bicornuate

f. Maternal illness: myotonic dystrophy/myasthenia gravis/multiple sclerosis

Disorders with mainly limb involvement

Amyoplasia

  • Most common type of arthrogryposis seen, accounting for 1/3 of cases (1/10000 live births)
  • Sporadic condition
  • Distinct appearance of limbs / joints, includes internally rotated, adducted shoulders, fixed extended elbows, pronated forearms, flexed wrists and fingers and bilateral talipes equinovarus
  • IQ is normal
  • 80% have midline facial capillary haemangioma

Other

  • Distal arthrogryposes (7 subtypes)
Disorders with involvement of limbs and other body parts

Multiple pterygium syndrome

  • Autosomal recessive: multiple joint contractures with marked pterygia, dysmorphic facies and cervical vertebral anomalies
  • Autosomal dominant: multiple pterygia with or without mental retardation

Other

  • Other pterygial syndromes
  • Freeman-Sheldon
  • Osteochondrodysplasias

To name a few examples:

  • Chromosomal disorders (various)
  • Cerebro-oculo-facial skeletal syndrome
  • Neu-Laxova syndrome
  • Pena-Shokeir

Presenting problem(s)

Clinical features

Pregnancy

Polyhydramnios (reduced swallowing in neurological/muscular disorders); oligohydramnios (external cause of arthrogryposis); reduced fetal movements; may be history of previous stillbirths/miscarriages/ consanguinity; fever/ prolonged nausea (infection)

Family history

hypermobility, dislocated joints

Associated features

Pulmonary hypoplasia (may cause respiratory failure and death); micrognathia; hypertelorism; jaw involvement causes trismus/ feeding and speech difficulties; pterygium; absent patella; absent skin creases (intrinsic cause); dimples; haemangioma

5-10% have limb fractures during delivery; also joint dislocations (hips/knees/radius head)

Scoliosis may develop later leading to respiratory compromise.

Malignant hyperthermia may be a risk in anaesthesia

Features of underlying syndrome e.g. hernias (connective tissue disorder), IUGR, genital abnormality, dysmorphic features; cleft palate ; short gut; cardiac/ renal problems.

CNS Associations

The following neurological features may be found depending on the underlying cause:

CNS Skull Eyes
  • Structural brain malformation
  • Seizures
  • Developmental delay
  • Cerebral palsy
  • Sensorineural deafness
  • Moebius syndrome
  • Craniosynostosis
  • Microcephaly
  • Micropthalmos
  • Corneal opacities
  • Ptosis
  • Ophthalmoplegia
  • Keratoconus

Investigations

Thorough history and examination

Imaging, consideration to:

  • X-rays of involved joints; spine (scoliosis), pelvis (hip dislocation); skeletal survey (dysplasia if short stature; absent patella; humeroradial synostosis)
  • Cranial ultrasound
  • CT/MRI (limbs / brain / spine)
  • Renal ultrasound
  • Echo
  • Photograph joints to monitor progression

Further investigations should be considered depending on clinical features:

  • Plasma CK: check if baby weak, reduced or doughy muscle bulk, or if progressive (congenital myopathy / muscular dystrophy)
  • EMG/NCS to exclude neuropathic cause
  • Muscle biopsy
  • IgM and viral cultures for intrauterine infections
  • Maternal acetylcholine receptor antibodies for myasthenia gravis
  • Chromosomes if multiple organ involvement/ CNS abnormality
  • DNA mutation analysis
  • Mitochondrial DNA studies
  • Skin biopsy for fibroblast culture and chromosome analysis

Consultations

  • Ophthalmology
  • Genetics
  • Orthopaedics
  • Therapists

Management

  • Physio/splints/ serial casts
  • Orthopaedic surgery: joints/ scoliosis
  • Supportive: feeding/ respiratory

Monitoring

Development; limb growth; contractures; scoliosis

Prognosis

Varies depending on cause, some forms are lethal especially if respiratory or CNS involvement. Of those with amyoplasia 2/3 are ambulant by age 5; most achieve independent life; most attend mainstream school and most require serial casting or surgery.

Support group

The Arthrogryposis Group (TAG)
TAG PO Box 5336
Stourport on Severn
DY13 3BE

Telephone: 01299 825 781
Email: tagonline.org.uk
Website: http://www.tagonline.org.uk  

References/Bibliography

Reference 1:
Chen H (13/02/2006) Arthrogryposis. eMedicine (e-pub) www.emedicine.com/ped/topic142.htm.

Document control information

Lead author(s)
Name Catherine De Vile Position Consultant Neurologist Dept/speciality Neurology
Document owner
Name Catherine De Vile Position Consultant Neurologist Dept/speciality Neurology
Approved by
Name Vijeya Ganesan Position Consultant Dept/speciality Neurology

Literature review undertaken no
Audit/evaluation of current practice undertaken no
All staff groups involved in the care of these patients have had input into the development/review no

First introduced 1 July 2006 Review schedule Three years
Date approved 1 July 2006 Next review 1 July 2009
Document version 1.0 Replaces version n/a
These guidelines are intended to guide and facilitate the care of patients at Great Ormond Street Hospital for Children NHS Trust (GOSH). The guidance contained therein is not intended to replace individual assessment and personalised treatment of the patient. The authors attempt to base the guidance on best available evidence and ensure that content is up to date. The guidelines may not necessarily represent the views of all clinicians at GOSH. This information may be used for private education, research and institutional education but if used for any other purposes, consent must first be obtained from GOSH. Any person intending to use the guidelines should assess the suitability of use. GOSH will not accept any responsibility for use by external agencies or individuals. No part of this publication may be reproduced, stored in or introduced into a retrieval system or transmitted in any form without prior consent and acknowledgment of GOSH. GOSH retains copyright.

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This page was last reviewed on 13 August 09 17:25