Arthrogryposis

Arthrogryposis

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The term arthrogryposis, or arthrogryposis multiplex congenita (AMC), refers to a group of nonprogressive conditions characterized by multiple joint contractures found throughout the body at birth. [1]  The designation is currently used in connection with a very heterogeneous series of disorders that all include the common feature of multiple congenital joint contractures. [2]

The major cause of arthrogryposis is fetal akinesia (ie, decreased fetal movements) due to fetal abnormalities (eg, neurogenic, muscle, or connective tissue abnormalities; mechanical limitations to movement) or maternal disorders (eg, infection, drugs, trauma, other maternal illnesses). Generalized fetal akinesia can also lead to polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord.

During early embryogenesis, joint development is almost always normal. Motion is essential for the normal development of joints and their contiguous structures; lack of fetal movement causes extra connective tissue to develop around the joint. This results in fixation of the joint, limiting movement and further aggravating the joint contracture. Contractures secondary to fetal akinesia are more severe in patients in whom the diagnosis is made early in pregnancy and in those who experience akinesia for longer periods of time during gestation.

United States

The frequency is about 1 in 3000 live births. [3, 4]

International

Arthrogryposis multiplex congenita is more common in isolated populations such as Finland and the Bedouin community in Israel. [5]

The life span of affected individuals depends on the disease severity and associated malformations but is usually normal. About 50% of patients with limb involvement and central nervous system (CNS) dysfunction die in the first year of life.

Scoliosis may compromise respiratory function. A retrospective study by Li et al indicated that arthrogryposis patients with concomitant scoliosis have worse pulmonary function than do individuals with adolescent idiopathic scoliosis. In study patients with arthrogryposis/secondary scoliosis, mean values for forced vital capacity (%FVC), forced expiratory volume in 1 second (%FEV1), and the ratio of FEV1 to FVC (%FEV1/FVC) were 48.8, 45.3, and 92.1, respectively, compared with 70.3, 69.7, and 96.9, respectively, for subjects with adolescent idiopathic scoliosis. [6]

No racial predilection has been described.

Males are primarily affected in X-linked recessive disorders; otherwise, males and females are equally affected.

Arthrogryposis is detectable at birth or in utero using ultrasonography.

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Li Y, Sheng F, Xia C, Xu L, Qiu Y, Zhu Z. Risk Factors of Impaired Pulmonary Function in Arthrogryposis Multiplex Congenital Patients With Concomitant Scoliosis: A Comparison With Adolescent Idiopathic Scoliosis. Spine (Phila Pa 1976). 2018 Apr 15. 43 (8):E456-60. [Medline].

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Navti OB, Kinning E, Vasudevan P, Barrow M, Porter H, Howarth E. Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population. Prenat Diagn. 2010 Jan. 30(1):49-56. [Medline].

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Isaacson G, Drum ET. Difficult airway management in children and young adults with arthrogryposis. World J Otorhinolaryngol Head Neck Surg. 2018 Jun. 4 (2):122-5. [Medline]. [Full Text].

[Guideline] Michaud LJ. Prescribing therapy services for children with motor disabilities. Pediatrics. 2004 Jun. 113(6):1836-8. [Medline].

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Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK) Consultant Neonatologist, Clinical Director for Neonatal Services, Associate Medical Director (Revalidation), The James Cook University Hospital, South Tees Foundation NHS Trust, UK

Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK) is a member of the following medical societies: American Pediatric Society, Society for Pediatric Research, British Association of Perinatal Medicine, British Medical Association, Neonatal Society, Nepal Medical Association, Royal College of Paediatrics and Child Health, Royal College of Physicians

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.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, 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 and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

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 and Translational Research, College of American Pathologists

Disclosure: Nothing to disclose.

Arthrogryposis

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