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PubMed1987

[Distal type I arthrogryposis--surgical possibilities of the hand].

Distal arthrogryposis as a special form of arthrogryposis multiplex congenita is a rare malformation syndrome associated with contractures of the hands. A special case demonstrates the possibilities of treating flexion contractures of the hand. This procedure is compared with the treatment of other contractures of the hand. One possibility is the shortening of the metacarpals by osteotomy and shortening of extensor tendons.

Adolescent↗
PubMed1985

The etiology of arthrogryposis (multiple congenital contracture).

In laboratory animals, prenatal contractures have been induced by viruses, neuromuscular blocking agents, toxins, insecticides, hyperthermia, and limb immobilization. In agricultural animals, prenatal contractures are related to pregnant animals foraging on plants containing toxic alkaloids. Epizootics of prenatal contractures in cattle have been related to Akabane viral infections, which can now be prevented by vaccination. Human arthrogryposis (multiple congenital contracture) may occur in any synovial joint in a large variety of combinations. Several lethal syndromes commonly associated with prenatal contractures (Pena Shokeir 1 and 11, Potter's) provide supportive evidence for the following concept of prenatal contracture etiology. Evidence is provided that indicates that the following multiple etiologic factors are related to production of human arthrogryposis: mutagenic agents, mitotic abnormalities, toxic chemicals or drugs, hyperthermia, neuromuscular blocking agents, and mechanical immobilization. These multiple factors mediate their effect via the central nervous system (craniospinal motor neuraxis), motor end-plates, or by primary degeneration of muscle. The resultant effect is loss of muscle mass with imbalance of muscle power at the joints, which provokes a collagenic response (Law of the Connective Tissue). The collagenic response consists of partial replacement of muscle volume and collagenous thickening of the joint capsules. The latter process leads to joint fixation.

Abnormalities, Drug-Induced↗
PubMed1985

Neuropathologic aspects of arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita is not a specific disorder but rather a symptom complex of congenital joint contractures associated with both neurogenic and myopathic disorders. Pathologic studies, including autopsy evaluation and muscle biopsy alone, were performed on 74 children with features of arthrogryposis. In 69 children (93%), the deformities were found to be neurogenic in origin, while five (7%) had myopathic disorders. The children in these two groups could be subdivided into 17 specific disorders, depending on the site of the pathologic lesions: anterior horn cells, roots, peripheral nerves, motor end-plates, or muscle. Disorders associated with dysgenesis of anterior horn cells were the most common pathologic type. The neurogenic groups were also characterized by a high incidence of other congenital anomalies, while the myopathic group had few associated defects. The main feature shared by these disorders appears to be the presence of severe weakness early in fetal development, which immobilizes joints, resulting in contractures.

Abnormalities, Multiple↗
PubMed1985

Hand assessment and management of arthrogryposis multiplex congenita.

Arthrogryposis of the upper extremity is easy to diagnose. The shoulders, when affected, are adducted and internally rotated; they are thin, and very little girdle muscle is noted. The elbows are usually straight, and extension contractures are present. The hand and wrist are clublike; the wrist is contracted in flexion, with slight ulnar deviation. The thumb is usually adducted and flexed in a palmar direction. The small joints of the fingers are stiff, and frequently the fingers are ulnar deviated. Early treatment consists of passive stretching of the contracted parts by either plaster casts or splints. If successful, this treatment is followed by functional splinting. If stretching is not successful, then surgical release of contracted major joints or parts can be helpful. Tendon transfers are used to give a dynamic force to aid correction of the deformity and provide useful motion. Surgical correction of small joints of the hand has not proved too successful and frequently will decrease mobility even further. The goal in treating upper extremity deformities in arthrogryposis is to provide one extremity that can be brought to the mouth for feeding and hygiene and one that can be used to push up from a sitting position or to be used with a crutch if necessary. Hand function can be improved by careful evaluation and planned procedures that are consistent with the above goals.

Arthrogryposis↗
PubMed1984

Diagnostic considerations in arthrogryposis syndromes in South Africa.

Congenital rigidity of multiple joints poses a difficult diagnostic and therapeutic problem. There are also semantic difficulties as the non-specific term "arthrogryposis" is often used for any individual with congenital limitation of joint movement. Many distinct syndromes present in this way and as they differ in their course, prognosis and genetic implications, diagnostic precision is crucial. A diagnostic analysis is given of 247 South African patients in whom "arthrogryposis" had been recorded, and the pathogenesis and nosology of congenital contractures are discussed in this paper. Three of these stiff joint conditions were originally described in South African patients, i.e. Liebenberg synostosis syndrome, digitotalar dysmorphism, and the Gordon syndrome of autosomal dominant cleft palate, camptodactyly and club feet.

Arthrogryposis↗
PubMed1983

Experimental study on the etiology of congenital multiple arthrogryposis.

The effect of temporary immobility of the muscles in the embryo, induced by continuous infusion of d-tubocurarine into the ovum, was studied in 31 chick embryos. The ankle and foot joints showed flexion contractures with equal frequency, but the knees were less severely affected. Histological examination demonstrated peri-articular and intra-articular fibrosis, and fibrosis of the muscles of the limb. These experimental lesions closely resemble those of arthrogryposis. It is therefore suggested that the aetiology of human arthrogryposis may be based on a common pathogenetic mechanism; lack of joint movement during embryonic life.

Animals↗
PubMed1977

Arthrogryposis multiplex congenita in an abdominal pregnancy.

A case of arthrogryposis multiplex congenita occurred in a 19-week fetus from a primary abdominal pregnancy. The unusual feature is the early synarthrosis, possibly caused by multiple factors. This case supports the concepts of multiple etiologic factors of arthrogryposis multiplex congenita.

Abortion, Therapeutic↗
PubMed1996

Familial distal arthrogryposis type I.

Distal arthrogryposis type I is defined by congenital joint contractures of hands and feet and is inherited in an autosomal dominant fashion. The hands are most frequently involved than the feet, 98% and 88% of the cases, respectively. The authors report a family with five patients affected over four generations. This family demonstrates the marked intra-familial variability in expression of this condition. Inter-familial variability is also typical of distal arthrogryposis type I.

Arthrogryposis↗
PubMed1997

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.

Arthrogryposis is a sign associated with many specific conditions and syndromes. It is a term used to describe the presence of multiple joint contractures that are present at birth. It can be seen in isolation or in association with other congenital abnormalities as part of a syndrome with or without central nervous system involvement. The exact pathogenesis of arthrogryposis is unknown, but all involve fetal akinesia (decreased fetal movement) with subsequent joint contractures. In this article I describe the causes, genetic aspects, classification, and approach to diagnosis.

Arthrogryposis↗
PubMed2005

A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome.

A two-generation family is reported in which three members have Duane anomaly and distal limb abnormalities. All three affected have photopic electroretinogram responses that are abnormal or at the lower limit of the normal range with normal scotopic responses. Two affected family members also have hearing loss. The likeliest diagnosis is the syndrome listed as "arthrogryposis-ophthalmoplegia syndrome" on the London Dysmorphology Database or as "arthrogryposis with oculomotor limitation and electroretinal abnormalities" or "oculomelic aplasia" in OMIM [MIM 108145]. In view of the similarities with Okihiro syndrome, a search for mutations within the SALL4 gene was undertaken, but none were identified.

Child↗
PubMed2000

Caesarean section using a combined spinal epidural technique in a patient with arthrogryposis multiplex congenita.

A case of a woman with arthrogryposis multiplex congenita presenting for elective caesarean section is reported. A combined spinal epidural anaesthetic technique was used. Aetiology and anaesthetic considerations for patients with arthrogryposis multiplex congenita are discussed. The importance of early referral to the anaesthetic team of patients with intercurrent disease or congenital syndromes is emphasised.

Journal Article↗
PubMed1976

Experimental arthrogryposis caused by viral myopathy.

Immobilization of the embryo has been postulated to cause the joint deformities in arthrogryposis multiplex congenita (AMC). Experimental damage to the motor neurons or pharmacologic blockade of neuromuscular transmission has previously resulted in typical joint changes of AMC. In the present investigation, we have studied the effects of paralysis produced by a viral myopathy on joint development. Coxsackievirus A2 was injected intravenously into chick embryos on the seventh day of incubation. Within 48 hours, severe myositis and paralysis resulted. Electron microscopical and immunofluorescence techniques demonstrated virus in muscle cells. Within three to four days after infection, the muscle had virtually disappeared. Ankylosis of joints, corresponding to that seen in human AMC, occurred. This study shows that primary myopathy with paralysis can produce arthrogrypotic joint deformities. The possibility of a viral etiologic factor in some human cases of AMC should be considered.

Animals↗
PubMed1984

Arthrogryposis multiplex congenita occurring with maternal multiple sclerosis.

All children of a mother with multiple sclerosis (MS) had increasing grades of congenital joint contractures without demonstrable neuromuscular disease. Two had talipes equinovarus, one had congenital hip subluxation, and the youngest had arthrogryposis multiplex congenita. Maternal MS may be causally related to the development of congenital joint contractures.

Adolescent↗
PubMed1996

Distal arthrogryposis type 1: clinical analysis of a large kindred.

We describe the clinical findings of 15 individuals in a large kindred affected with distal arthrogryposis type 1A (DA1A). The most consistent findings among individuals were overlapping fingers at birth, abnormal digital flexion creases, and foot deformities, including talipes equinovarus and vertical talus. There was marked intrafamilial variation in the expression of DA1A. Linkage mapping of the locus for DA1A suggests that the use of strict diagnostic criteria excludes unaffected individuals rigorously, but can produce incomplete ascertainment of affected individuals. In the context of an affected family, the range of phenotypes consistent with a diagnosis of DA1A needs to be expanded.

Arthrogryposis↗
PubMed1997

New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis.

We describe a "new" syndrome of spondylospinal thoracic dysostosis with a short curved spine and fusion of the spinous processes, short thorax with "crab-like" configuration of the ribs, pulmonary hypoplasia, severe arthrogryposis and multiple pterygia, and hypoplastic maxilla and mandible in two siblings. This appears to be an autosomal recessive lethal trait. A literature review revealed two reports of four similar or related cases.

Arthrogryposis↗
PubMed2000

Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is defined as nonprogressive congenital contractures that generally result from lack of fetal movement in utero. AMC is a feature of many congenital disorders caused by genetic, environmental, or other factors. One rare cause of AMC is maternal myasthenia gravis (MG). This is an autoimmune disorder, caused by antibodies to the nicotinic acetylcholine receptor (AChR), and resulting in weakness of voluntary muscles. In 10-15% of babies born to MG mothers, transient signs of MG are noted after placental transfer of anti-AChR antibodies. In a few cases, AMC predominates. METHODS: We review the role of antibodies to AChR in MG and in AMC associated with maternal antibodies to AChR. RESULTS: In anti-AChR antibody-associated AMC, fetal or neonatal death is common; other deformities or CNS abnormalities are common as well. The condition usually recurs in each pregnancy unless the mother is treated for MG, but some mothers are asymptomatic. The maternal antibodies cross the placenta and block the function of the fetal isoform of the AChR leading to fetal paralysis. Injection of maternal plasma into pregnant mice results in AMC in mouse fetuses. Some women with recurrent AMC in their babies have no detectable anti-AChR suggesting the presence of antibodies to other fetal muscle or neuronal proteins. CONCLUSIONS: Although rare, anti-AChR-associated AMC is potentially treatable and can be diagnosed by a routine antibody test. The mouse model can be used to investigate the role of these and other maternal antibodies in causing congenital conditions.

Animals↗
PubMed2001

Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter.

Arthrogryposis multiplex congenita (AMC) is a heterogeneous symptom complex characterized by non-progressive joint contractures from birth that involve more than one part of the body. In 1997, our group investigated a large Israeli Arab inbred kindred that showed autosomal recessive inheritance of AMC neuropathic type, and we mapped the gene to 5qter between markers D5S1456 and D5S498. Haplotype sharing studies revealed complete homozygosity in all affected individuals with marker D5S394, thus providing significant statistical evidence in favor of linkage. In this study, we have undertaken further fine mapping of this region of chromosome 5qter, and have examined several additional markers. All the affected individuals showed complete homozygosity for the marker D5S394, and also for three additional markers that are telomeric to marker D5S394 and situated 31766 bp, 58016 bp, and 58516 bp, respectively, from it. Analysis of the recombinant individuals has enabled us to narrow down the critical region to a distance of.442 Mb between markers D5S394 and D5S2069.

Alleles↗
PubMed1980

Autosomal-dominant inheritance of distal arthrogryposis.

We report on a 32-year-old Italian man, his 5-year-old daughter, and his 3 1/2-year-old son, all of whom had congenital joint contractures. Each has severe ulnar deviation of fingers and soft-tissue contractures of both hands; and each had bilateral clubfeet at birth. The father is short in stature, as are the children, who also have delayed carpal ossification. The findings in this family suggest autosomal-dominant inheritance of the condition. The clinical features are consistent with the condition currently referred to as "distal" arthrogryposis.

Abnormalities, Multiple↗