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  • Arthrogryposis multiplex congenita (AMC)
  • Amyoplasia
  • Classic arthrogryposis
  • Gordon syndrome

  • 728.3 Other specific muscle disorders
  • 754.89 Other specified nonteratogenic anomalies

  • Q74.3 Arthrogryposis multiplex congenita

Description

  • Children are born with limited range of motion
  • Limited room in the uterus for development
  • Term used to describe two or more congenital, non-progressive joint contractures2

Essentials of Diagnosis

  • Comprises over 300 different disorders

General Considerations

  • Types
    • Myopathic: fixed flexion contractures of joints, chest, and spine
      • Amyoplasia: most common and can have dense fibrous tissue
    • Arthrogryposis Ectodermal Dysplasia
      • Cote Adamopoulos Pantelakis
    • Arthrogryposis Multiplex Congenita Neurogenic (AMCN)
    • Arthrogryposis Multiplex Congenita Distal (AMCD)
      • Distal joints more often involved than proximal joints
      • Gordon syndrome: Distal Arthrogryposis, Type 2A
  • Affects joints bilaterally

Demographics

  • 1 in 3,000 to 5,100 infants3
  • Genetic: X-linked recessive origin primarily affects males3

Signs and Symptoms

  • Club foot
  • Hip dysplasia
  • Limited range of motion of joints including temporomandibular joint
  • Abnormal development of the muscles, joints and bones
  • Scoliosis
  • Abnormal development of the spinal cord and central nervous system
  • Craniofacial malformations
  • Cardiac, respiratory, or organ anomalies
  • Webbing skin around joints

Functional Implications

  • Limits functional mobility
  • Developmental delays with movement

Possible Contributing Causes

  • Prader-Willi Syndrome4
  • Amyoplasia (focal arthrogryposis)4
  • Neonatal neuropathy4
  • Congenital myopathy4
  • Congenital muscular dystrophy4
  • Congenital myasthenia4
  • Myasthenia gravis
  • Multiple sclerosis
  • Myotonic dystrophy4
  • Werdnig-Hoffmann motor neuron disease4
  • Oligohydramnios
  • Neuromuscular disorder
  • Fetal akinesia
  • Fetal hyperthermia
  • Fetal intrauterine crowding
  • Prenatal virus
  • Fetal vascular compromise
  • Abnormality of connective tissue
  • Maternal infection or illness

Differential Diagnosis

  • Metabolic disease
  • Muscular dystrophy

Laboratory Tests

  • CPK levels

Imaging

Diagnostic Procedures

  • Muscle biopsy
  • Electromyography
  • Nerve conduction velocity

  • Abnormal chromosomes with genetic testing
  • Excessive muscle fibrosis on muscle biopsy

Medical Procedures

  • Osteotomy
  • Tenotomy
  • Serial casting

  • Admission for surgical correction
  • Orthopedist for muscle and joint development issues
  • Neurologist for spinal cord and CNS development
  • Geneticist
  • Orthotist for bracing and splinting
  • Ophthalmologist for retinopathy
  • Occupational therapist for fine motor skills
  • Speech therapist for throat musculature
  • Social worker
  • Counseling services for family resources

  • Decreased passive and/or active range of motion
  • Decreased strength
  • Inability to transfer independently
  • Inability to sit independently
  • Inability to stand independently
  • Inability to roll
  • Inability to walk independently
  • Decreased independent with ADL: seating, dressing, toileting
  • ...

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