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Pediatric Annals Jul 2020Arthrogryposis multiplex congenita (AMC) is a complex, etiologically diverse, clinical descriptor identified in a variety of diagnoses characterized by multiple... (Review)
Review
Arthrogryposis multiplex congenita (AMC) is a complex, etiologically diverse, clinical descriptor identified in a variety of diagnoses characterized by multiple congenital joint contractures. The root cause of AMC is decreased fetal movement in-utero, whether resulting from maternal or pregnancy influences, nervous system pathology, or an underlying genetic abnormality. Prenatal diagnosis via ultrasonography can be challenging and may require additional imaging techniques or studies. After birth, these infants may require assistance breathing and feeding depending on the underlying diagnosis. Physical therapy and surgical intervention of the contractures are the mainstays of therapy, and outcomes can be good when intervention is provided in a timely manner. Those infants with syndromic causes of arthrogryposis are more likely to have poor outcomes; therefore, determining the underlying etiology for AMC is important as this can influence counseling regarding individual prognosis as well as future pregnancies. [Pediatr Ann. 2020;49(7):e299-e304.].
Topics: Arthrogryposis; Humans; Infant; Infant, Newborn
PubMed: 32674167
DOI: 10.3928/19382359-20200624-01 -
American Journal of Medical Genetics.... Sep 2019There is a need for a system to classify various forms of arthrogryposis. None is satisfactory or complete. Nevertheless, several have been developed to meet the needs... (Review)
Review
There is a need for a system to classify various forms of arthrogryposis. None is satisfactory or complete. Nevertheless, several have been developed to meet the needs of clinicians, prenatal diagnosticians, researchers, and basic scientists. They all await more insight into basic mechanisms.
Topics: Arthrogryposis; Humans
PubMed: 31271512
DOI: 10.1002/ajmg.c.31716 -
American Family Physician Jan 1989Arthrogryposis (multiple congenital contractures) has various causes and appears as many different syndromes. The basic classification for therapeutic and prognostic... (Review)
Review
Arthrogryposis (multiple congenital contractures) has various causes and appears as many different syndromes. The basic classification for therapeutic and prognostic purposes divides affected children into those who have only limb involvement, those with limb and trunk, craniofacial or visceral involvement, and those with severe central nervous system dysfunction. Decreased fetal movement is an important etiologic factor. A multidisciplinary approach is required to evaluate these children, and early physical therapy is essential.
Topics: Arthrogryposis; Humans; Infant, Newborn; Prenatal Diagnosis; Prognosis
PubMed: 2643273
DOI: No ID Found -
Orthopaedics & Traumatology, Surgery &... Feb 2021Arthrogryposis multiplex congenita (AMC) consists of congenital joint contractures that affect at least two joints. There are two types: in the first, arthrogryposis is... (Review)
Review
Arthrogryposis multiplex congenita (AMC) consists of congenital joint contractures that affect at least two joints. There are two types: in the first, arthrogryposis is an additional sign in the context of various pathologies (neuromuscular diseases); in the second, it is the main and constant symptom. In the first type, the progression of the causal underlying disease must be considered. In the second type, there are two specific forms: Amyoplasia corresponds to a significant congenital absence of muscles (epigenetic disease or vascular origin) while distal arthrogryposis has a genetic component and is transmissible. The orthopedic surgeon's purpose, which is usually to enhance movement, is not appropriate for an arthrogryposis patient. One must keep in mind that without muscle, movement is impossible. The goal differs between the upper and lower limbs: for the upper limb, it is to allow grasping, and, if possible, to bring the hand to the mouth; for the lower limb, it is to ensure ambulation with plantigrade support, and the knees extended, which is the only stable position possible with little to no muscles. The rehabilitation, orthoses and/or surgical techniques are chosen to achieve this singular aim. While it may appear modest, it is crucial for patients. The goal is to achieve useful mobility, not maximum mobility. This multidisciplinary treatment, which evolves over time, must be explained to the family to get its adherence.
Topics: Arthrogryposis; Contracture; Humans; Lower Extremity; Upper Extremity; Walking
PubMed: 33321243
DOI: 10.1016/j.otsr.2020.102781 -
Journal of Medical Genetics Jun 2022Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic...
BACKGROUND
Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.
METHODS
Several genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.
RESULTS
We achieved disease gene identification in 52.7% of AMC index patients including nine recently identified genes (, , , , , , , and ). Moreover, we identified pathogenic variants in and expanding the phenotypes associated with these genes. The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). The most frequent mode of inheritance is autosomal recessive (66.3% of patients). In sporadic patients born to non-consanguineous parents (n=60), de novo dominant autosomal or X linked variants were observed in 30 of them (50%).
CONCLUSION
New genes recently identified in AMC represent 21% of causing genes in our cohort. A high proportion of de novo variants were observed indicating that this mechanism plays a prominent part in this developmental disease. Our data showed the added value of WES when compared with TES due to the larger clinical spectrum of some disease genes than initially described and the identification of novel genes.
Topics: Arthrogryposis; Genomics; Humans; Pedigree; Phenotype; Proteins; Transcription Factors; Exome Sequencing
PubMed: 33820833
DOI: 10.1136/jmedgenet-2020-107595 -
Ugeskrift For Laeger Aug 2015Arthrogryposis multiplex congenita (AMC) is a sign rather than a diagnosis. It implies contractures in multiple body areas and occurs in 1:3,000-5,000 live births.... (Review)
Review
Arthrogryposis multiplex congenita (AMC) is a sign rather than a diagnosis. It implies contractures in multiple body areas and occurs in 1:3,000-5,000 live births. Primary aetiologies include neuropathic, myopathic, metabolic, end plate and vascular disorder affecting the developing foetus, including limitation of foetal space. Amyoplasia is the most common type of AMC after central nervous system disorders. Knowledge about the classification of AMC is essential to make a correct diagnosis and treatment plans. We recommend follow-up by experienced paediatric orthopaedic surgeons and neurologists.
Topics: Arthrogryposis; Humans; Infant; Syndrome
PubMed: 26320355
DOI: No ID Found -
The Journal of Maternal-fetal &... Feb 2019Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. It affects... (Review)
Review
Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. It affects approximately 1 in 3000 individuals, mostly reported in individuals of Asian, African and European descent with equal incidence in males and females. Arthrogryposis is associated with over 400 medical conditions and 350 known genes with considerable variability in phenotypic expression. The primary underlying mechanism is decreased fetal movement during development. Prenatal imaging is crucial in early diagnosis by identifying fetal movement limitations and the presence of club foot or joint contractures. Postnatal autopsy confirms the diagnosis and extent of associated congenital anomalies and provides a valuable source of DNA material. Molecular methods are particularly useful in delineating novel gene mutations, locus heterogeneity and phenotype genotype correlation. Prenatal evaluation with early diagnosis via image scanning and further genetic surveillance give the opportunity for family counseling concerning future pregnancy management and expected neonatal morbidity and mortality.
Topics: Arthrogryposis; Female; Genetic Association Studies; Humans; Phenotype; Pregnancy; Ultrasonography, Prenatal
PubMed: 28954562
DOI: 10.1080/14767058.2017.1381683 -
The Journal of the American Academy of... 2002Arthrogryposis (multiple congenital joint contractures) is an uncommon problem. Because there are many causes, correct diagnosis is important to predict the natural... (Review)
Review
Arthrogryposis (multiple congenital joint contractures) is an uncommon problem. Because there are many causes, correct diagnosis is important to predict the natural history and determine appropriate treatment. Inconsistent terminology has caused confusion about both diagnosis and treatment. Amyoplasia, the most common type of arthrogryposis, is characterized by quadrimelic involvement and replacement of skeletal muscle by dense fibrous tissue and fat. Early physical therapy and splinting may improve contractures, but surgical intervention is often necessary. Aggressive soft-tissue releases in addition to casting may improve joint position. In more severe contractures, osseous surgery also may be needed. Deformity recurrence is common, particularly in skeletally immature patients.
Topics: Arthrogryposis; Child; Clubfoot; Diagnosis, Differential; Hip Dislocation; Humans; Knee Joint; Physical Therapy Modalities; Scoliosis; Splints; Terminology as Topic
PubMed: 12470044
DOI: 10.5435/00124635-200211000-00006 -
Journal of Hand Surgery (Edinburgh,... Oct 2005Since much confusion exists regarding arthrogryposis multiplex congenita (AMC), the President of the IFSSH commissioned the AMC Committee to compile a report on the... (Review)
Review
Since much confusion exists regarding arthrogryposis multiplex congenita (AMC), the President of the IFSSH commissioned the AMC Committee to compile a report on the various aspects of this condition. This report discusses all the facets of AMC, including definition, terminology, dermographics, aetiology, classification, clinical features, management, prognosis and further studies. Manipulation of the deformities starting soon after birth improves the range of motion, which, if surgery needs to be done, makes the operation less extensive. Sometimes surgery may not even be necessary. Early one-stage corrective surgery between 3 and 12 months of age is encouraged. This results in improved function and near normal cosmetic appearance. Late, piece-meal surgery results in disappointing outcome.
Topics: Arthrogryposis; Humans; Orthopedic Procedures; Prognosis; Terminology as Topic
PubMed: 16061316
DOI: 10.1016/j.jhsb.2005.06.004 -
The Journal of Pediatrics May 1966
Review
Topics: Arthrogryposis; Female; Humans; Infant, Newborn
PubMed: 5325963
DOI: 10.1016/s0022-3476(66)80464-x