Arthrogryposis Workup

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 11, 2011
 

Laboratory Studies

  • In general, laboratory tests are not extremely useful in arthrogryposis.
  • Obtain creatine phosphokinase (CPK) levels when the following conditions are present:
    • Generalized weakness
    • Doughy or decreased muscle mass
    • Progressive worsening
  • Viral cultures may reveal an infectious process.
  • Immunoglobulin M levels and specific viral titers (eg, coxsackievirus, enterovirus, Akabane virus) in the newborn may reveal intrauterine infection.
  • Maternal antibodies to neurotransmitters in the infant may indicate myasthenia gravis.
  • Cytogenetic study is indicated in the following situations:
    • Multiple organ or system involvement
    • Presence of CNS abnormalities, such as microcephaly, MR, lethargy, degenerative changes, or eye anomalies
  • Consider performing a fibroblast chromosome study if lymphocyte chromosome levels are normal and the patient has mental retardation (MR) without diagnosis.
  • Nuclear DNA mutation analysis is used to identify certain disorders, such as spinal muscular dystrophy.
  • Mitochondrial mutation analysis is used to identify certain disorders, such as mitochondrial myopathy.
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Imaging Studies

  • Use photography to document the extent of deformities (range of motion and position of arthrogryposis) and to assess progress during treatment.
  • Use radiography to evaluate the following skeletal and joint abnormalities:
    • Bony abnormalities (eg, gracile bones, fusions, extra or missing carpals and tarsals)
    • Disproportionately short stature (ie, skeletal dysplasias)
    • Scoliosis
    • Ankylosis
    • Absence of patella
    • Humeroradial synostosis
  • Ultrasonography can help in evaluating the CNS and other viscera for anomalies. Ultrasonography also establishes potential muscle tissue.
  • CT scanning can be used to evaluate the CNS and the muscle mass.
  • MRI can be used to evaluate muscle mass obscured by contractures.
  • Prenatal ultrasonography can be used to discover the following:
    • Decreased fetal movement
    • Abnormal fetal lie
    • Polyhydramnios or oligohydramnios
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Other Tests

  • Perform an ophthalmologic evaluation for opacity and retinal degeneration.
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Procedures

  • Skin biopsy should be performed for culture of fibroblasts to be used for chromosome analysis.
  • Muscle biopsy
    • Muscle biopsy is probably the most important diagnostic procedure. It should be included in all autopsies and at time of surgery.
    • Distinguish myopathic from neuropathic conditions by obtaining muscle specimens from normal and affected areas.
    • Special histopathologic and electron micrographic studies are used to evaluate fatty and connective tissue replacement of muscle fibers and variations in fiber size, such as decreased fiber diameter. All are nonspecific signs of muscle atrophy.
  • Electromyography (EMG) of normal and affected areas is useful in differentiating neurogenic and myopathic causes.
  • Nerve conduction tests measure conduction velocities in motor and sensory nerves; these should be performed when a peripheral neuropathy is suspected.
  • An autopsy should be performed to discover more about the following:
    • CNS (ie, brain neuropathology)
    • Spinal cord (number and size of anterior horn cells, presence or absence of tracts at various levels)
    • Ganglia and peripheral nerves
    • Eye (ie, neuropathology)
    • Muscle tissue from different muscle groups (ie, electron microscopy and special stains)
    • Fibrous bands replacing muscle
    • Tendon attachments
    • Other visceral anomalies, malformations, deformations, and disruptions
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Histologic Findings

Neurogenic types of arthrogryposis multiplex congenita

  • Muscle fiber type predominance or disproportion is the most common neurogenic abnormality in arthrogryposis (26%). These are nonspecific alterations. Dysgenesis of the motor nuclei of the spinal cord and brainstem involves the replacement of fasciculi of muscle fibers by small muscle fibers and adipose tissue. Examples include Pierre-Robin syndrome and Möbius syndrome.
  • Dysgenesis of the CNS is the second most common neurogenic abnormality in arthrogryposis (23%), with disorganization of neurons and a decrease in neurons of the cortex and motor nuclei of the brainstem and spinal cord. Clinical syndromes associated with this abnormality include trisomy 18, partial deletion of the long arm of chromosome 18 syndrome, and Zellweger syndrome.
  • Dysgenesis of the anterior horn, another common neurogenic abnormality in arthrogryposis, is the cause of Meckel-Gruber syndrome and anencephaly.
  • Spinal muscular atrophy (eg, Werdnig-Hoffmann disease) is another neurogenic abnormality in arthrogryposis.

Myopathic types of arthrogryposis multiplex congenita

  • Central core disease is a form of arthrogryposis in which the central portion of each muscle fiber contains a zone in which oxidative enzyme activity is absent.
  • Nemaline myopathy is indicated by abnormal threadlike structures in muscle cells. In type I nemaline myopathy, nemaline rods are present. In type II, the number of fibers with central nuclei is increased.
  • Congenital muscular dystrophy is indicated by muscle fibers that demonstrate a rounded configuration and conspicuous variation in diameter. Perimysial and endomysial connective tissues are markedly increased.
  • Mitochondrial cytopathy is indicated by numerous ragged-red fibers on muscle biopsy samples. It is associated with CNS abnormalities consistent with mitochondrial disease.
  • Myoneural junction abnormality (eg, congenital myasthenia gravis) is another myopathic type of arthrogryposis.
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Contributor Information and Disclosures
Author

Harold Chen, MD, MS, FAAP, FACMG  Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

James Bowman, MD  Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Hagop Youssoufian, MD, MSc  Vice President of Clinical Research, ImClone Systems Incorporated

Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

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An infant with amyoplasia. Note internally rotated and adducted shoulders, fixed extended elbows, pronated forearms, flexed wrists and fingers, and severe talipes deformity.
An infant with distal arthrogryposis type I. Note medially overlapping fingers, tightly clenched fists, and positional foot contractures.
The hands of a patient with contractural arachnodactyly (Beals syndrome). Note the long, thin fingers with interphalangeal joint contractures.
A girl with an autosomal recessive type of multiple pterygium syndrome. Note the multiple joint contractures at the knees with marked pterygia, including intercrural webbing, affecting her stance and ambulation.
A mother and child both affected with trismus pseudocamptodactyly. Note the small mouth (with limited ability to open) and flexion contractures of fingers on dorsiflexion.
Twins with a lethal type of autosomal recessive multiple pterygium syndrome. Note the multiple joint contractures with marked pterygia, cardiac and lung hypoplasia, and characteristic facies.
An infant with a lethal type of multiple pterygium syndrome. Note multiple joint contractures with marked pterygia and a cystic hygroma on the posterior aspect of the head and the neck.
The photograph on the left shows an infant with fetal akinesia. Note depressed nasal bridge, micrognathia, flexion contractures of elbows, bilateral clubhands, and arthrogryposis of fingers. The radiograph on the right shows an infant with fetal akinesia. Note gracile ribs; thin, long bones with multiple fractures at mid diaphyses of the humeri, distal diaphyses of the femora, and proximal diaphyses of both tibiae and left fibula; and clubhands.
An infant with Pena-Shokeir syndrome. Note characteristic facies (ocular hypertelorism; short nose with depressed bridge; small and markedly recessed jaw; low-set, malformed ears), short neck, mild contracture at the hip, moderate contractures at elbows and knees, severe ankle contractures, and camptodactyly with ulnar deviation of the hands.
 
 
 
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