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PubMed1998

Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene.

In this report we present evidence that Marden-Walker syndrome and isolated distal arthrogryposis may be variable manifestations of the same entity. We describe the clinical and pathological findings in two affected siblings, the first two children of normal, non-consanguineous parents. The first child, a female, presented a typical Marden-Walker syndrome with Dandy Walker type CNS malformation, corpus callosum hypoplasia and enlarged ventricles. In the second pregnancy, echographic examination revealed joint contractures of the hands and feet. Fetopathological examination revealed a normocephalic male fetus with severe distal arthrogryposis. There was no facial dysmorphism and pathological examination of the brain, the spinal cord and muscle was normal.

Abnormalities, Multiple↗
PubMed2006

Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder - a new syndrome?

Neonatal diabetes mellitus is a rare (1/400 000 newborns) but potentially devastating condition, which may be transient or permanent; typical symptoms occur within the first 4 wk of life. The transient form is a developmental insulin production disorder that resolves postnatally. Fifty to 60% of cases can be seen as transient form. Cases that require lifelong insulin therapy can be described as permanent condition. This fraction of cases is less common than the transient form. There are no clinical features that can predict whether a neonate with diabetes mellitus but no other dysmorphology will eventually have permanent neonatal diabetes mellitus (PNDM) or transient neonatal diabetes mellitus. Some metabolic or genetic defects such as complete deficiency of glucokinase or heterozygous activating mutations of KCNJ11, encoding Kir6.2, were found in patients with PNDM. A preterm female infant with a gestational age of 36 wk was admitted to the neonatal intensive care unit in the first hours of life due to prematurity and intra-uterine growth retardation. She was diagnosed as having arthrogryposis multiplex congenita on the first day. Hyperglycemia was detected on the third day of life, and she required insulin treatment. The patient is now 6 yr old with PNDM, arthrogryposis multiplex, neurogenic bladder, immune deficiency, constipation, and ichthyosis. Is this a new form of neonatal diabetes mellitus?

Arthrogryposis↗
PubMed2005

Radiation hybrid mapping of genes and newly identified microsatellites in candidate regions for bovine arthrogryposis-palatoschisis and progressive ataxia based on comparative data from man, mouse and rat.

A comparative pathology and mapping strategy was used to initiate a study on two bovine genetic diseases: arthrogryposis-palatoschisis and progressive ataxia, which affect mainly Charolais cattle. Bibliographic studies provided information on the pathology of these diseases, which helped to define similar diseases in other species. Animals affected by bovine arthrogryposis-palatoschisis display similar symptoms to those of muscular dysgenesis, mouse mutants and animals with progressive ataxia to those of Long Evans Shaker rat mutants. Candidate regions are respectively human chromosome 1q32 (BTA16) containing the gene CACNA1S and human chromosome 18q23 (BTA24) containing the gene myelin basic protein (MBP). Primer pairs were designed for 15 loci around each candidate gene, in a region of about 20 megabases and were used to screen a bovine Bacterial Artificial Chromosome (BAC) library. Eighteen microsatellites were found in the identified BAC clones, 11 on BTA24 and seven on BTA16. The genes and microsatellites were mapped by radiation hybrid (RH) analysis and a RH map was obtained for each region with 18 new localizations on BTA16 and 23 on BTA24. Comparative human-bovine analysis of the MBP region shows a good conservation of gene order while that of the CACNA1S region shows several breakpoints.

Animals↗
PubMed1980

Arthrogryposis multiplex congenita due to congenital myasthenia.

Decreased fetal movements may cause arthrogryposis multiplex congenita. Several distinct neuromuscular disorders may cause this syndrome, but congenital myasthenia has not previously been considered to be a possible cause. The authors report a case of congenital myasthenia gravis leading to arthrogryposis congenita.

Adenosine Triphosphatases↗
PubMed1998

Antibodies affecting ion channel function in acquired neuromyotonia, in seropositive and seronegative myasthenia gravis, and in antibody-mediated arthrogryposis multiplex congenita.

A new autoimmune disease affecting the neuromuscular junction has been defined. Acquired neuromyotonia is associated with antibodies to voltage-gated potassium channels that act, at least in part, by reducing potassium channel function with resulting neuronal hyperactivity. This condition is quite frequently associated with thymoma and, in many cases, antibodies to acetylcholine receptors are present as well as antibodies to VGKC. Improvements in techniques and the availability of cloned DNA and recombinant forms of the AChR subunits have led to new observations concerning the specificity and roles of antibodies in myasthenia gravis. The transfection of a cell line with the epsilon subunit means that we can now accurately compare antibodies reactive with adult and fetal human AChR. This may help to determine the relationship between AChR subunit expression in different tissues and the induction of antibodies that bind specifically to the two forms, as well as to clarify the role of antibodies to fetal or adult AChR in causing ocular muscle symptoms. Serum antibodies from a few mothers with obstetric histories of recurrent arthrogryposis multiplex congenita in their babies specifically inhibit the function of fetal AChR. These observations not only explain the cause of some cases of arthrogryposis multiplex congenita, but also suggest that other fetal-specific antibodies might be responsible for other fetal or neonatal conditions. An animal model has been established to enable us to investigate the role of maternal serum factors in causing such disorders. Seronegative MG has been the subject of many studies from our laboratory over the last ten years. The transience of the effects of SNMG plasmas on AChR function strongly suggests that the plasma antibodies do not bind directly to the AChR, but inhibit function by some indirect mechanism. They do not appear to act via the cAMP-dependent protein kinase pathway, and studies are in progress to investigate the involvement of other second messenger systems.

Adult↗
PubMed1980

Arthrogryposis: an inherited defect in newborn calves.

Arthrogryposis, frequently associated with cleft palate, scoliosis and kyphosis, has been investigated in pure and crossbred Charolais calves. During a 3-year study, a total of 76 congenitally malformed arthrogrypotic calves from 41 purebred and commercial Charolais herds was investigated. Investigations of the management, feeds, water and poisonous pasture plants in 6 herds reporting deformed calves did not reveal any factors which could be associated with the appearance of the defect. Analysis of pedigrees and matings which produced arthrogrypotic calves revealed that the arthrogryposis syndrome in the Charolais breed and its crosses in Canada is genetic in origin and caused by an autosomal recessive gene with complete penetrance in the homozygous state.

Animals↗
PubMed1976

Arthrogryposis multiplex congenita. Search for prenatal factors in 66 sporadic cases.

In a family and epidemiological survey of 66 cases of arthrogryposis multiplex congenita all cases were found to be sporadic and no family association with clubfoot, congenital dislocation of the hip, or hereditary neuromuscular disease was found. The mothers were significantly older than average. Oligohydramnios was noted in only one-third of cases but many other complications of pregnancy, including probable attempts at abortion, had occurred. It is likely that most cases of arthrogryposis are nongenetic and result from a defective intrauterine environment, whether hormonal, vascular, mechanical, or possibly infective.

Arthrogryposis↗
PubMed1974

Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex.

A family is described in which a hereditary peripheral neuropathy occurs, inherited as an autosomal dominant character. The syndrome is present at birth and does not show any significant progression thereafter. Three of the cases have suffered from arthrogryposis multiplex congenita. A secondary myopathy is also present. The condition appears to be intermediary between peroneal muscular atrophy and Friedreich's ataxia. Appearance at birth, presence of arthrogryposis multiplex congenita, and the non-progressive nature separate it sharply from the other heredofamilial ataxias and peripheral neuropathies.

Adult↗
PubMedDate not supplied

Congenital rapidly fatal form of nemaline myopathy with fetal hydrops and arthrogryposis. A case report and review.

A new lethal case of nemaline myopathy is reported. The diagnosis was made by postmortem muscle biopsy. The child died before his first day of life. This is one of the very rare cases of nemaline myopathy with severe antenatal ultrasonographic signs: fetal hydrops and arthrogryposis. In a review of the literature other cases of the congenital rapidly fatal form are found, some of them with clinical decrease of fetal movements but only few authors report ultrasonographic signs. The diagnostic, histopathogenic, genetic and evolutive aspects of this heterogeneous disorder are analyzed. This congenital nonprogressive myopathy is not as benign as previously thought and may be an etiology of the lethal form of arthrogryposis multiplex congenita. The existence of ultrasonographic antenatal signs seems to be a factor of poor prognosis. In spite of recent genetic discoveries, there is at present no specific antenatal diagnosis. Consequently, muscle biopsy in lethal cases is very important to allow a genetic counselling; however, in utero fetal biopsy has never been performed in such cases.

Adult↗
PubMedDate not supplied

Arthrogryposis multiplex congenita and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression?

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies. The rate of recurrence ranges from 25% in some recessive forms of myogenic arthrogryposis or of primary anterior horn cell loss, to less than 1% in anoxic-ischaemic damage. Cerebral clastic processes are considered as sporadic. We report on a non-consanguineous family in which the first child was affected by AMC and the following pregnancy was terminated because cerebellum hypoplasia was suspected at ultrasound and confirmed by fetal magnetic resonance imaging. Post-mortem findings demonstrated pontocerebellar ischaemic-haemorrhagic injuries. The occurrence of these neurologic abnormalities in the same family suggests a common mechanism, which might correspond to a same genetic defect with different patterns of expression. This is the first prenatal report suggesting that an 'ischaemic' process, usually recognised as sporadic could in fact be due to an inherited abnormality. Careful prenatal follow-up of third-trimester fetal brain development may be required in pregnant women with a family history of AMC.

Adult↗
PubMed1992

Goniodysgenesis of the eye with arthrogryposis multiplex congenita.

We report an autopsy case of 4-day-old male infant with arthrogryposis multiplex congenita studied by histological methods in respect to the ocular tissues. The eye examined was normal in size, and the retina, optic nerve, choroid, sclera and extracocular muscle showed no remarkable histological changes. However, the cornea was thickened, and the iris, trabecular tissue and ciliary body showed maldevelopmental changes, which were all compatible with goniodysgenesis. The clinical data of this case did not demonstrate any signs of congenital glaucoma, but the present study indicates that an infant with arthrogryposis multiplex congenita has a potential for infantile glaucoma with goniodysgenesis.

Abnormalities, Multiple↗
PubMed1996

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data strongly suggest that AMC of neurogenic origin is genetically heterogeneous, with a subgroup being allelic to SMA. Absence or interruption of the SMN gene in the AMC-SMA association will make the diagnosis easier and genetic counselling will now become feasible.

Arthrogryposis↗
PubMed2001

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

Limitation of movement during fetal development may lead to multiple joint contractures in the neonate, termed arthrogryposis multiplex congenita. Neuromuscular disorders are among the many different causes of reduced fetal movement. Many congenital myasthenic syndromes (CMSs) are due to mutations of the adult-specific epsilon subunit of the acetylcholine receptor (AChR), and, thus, functional deficits do not arise until late in gestation. However, an earlier effect on the fetus might be predicted with some defects of other AChR subunits. We studied a child who presented at birth with joint contractures and was subsequently found to have a CMS. Mutational screening revealed heteroallelic mutation within the AChR delta subunit gene, delta 756ins2 and delta E59K. Expression studies demonstrate that delta 756ins2 is a null mutation. By contrast, both fetal and adult AChR containing delta E59K have shorter than normal channel activations that predict fast decay of endplate currents. Thus, delta E59K causes dysfunction of fetal as well as the adult AChR and would explain the presence of joint contractures on the basis of reduced fetal movement. This is the first report of the association of AChR gene mutations with arthrogryposis multiplex congenita. It is probable that mutations that severely disrupt function of fetal AChR will underlie additional cases.

Action Potentials↗
PubMed1984

Neuromuscular arthrogryposis multiplex congenita in a thoroughbred foal.

Arthrogryposis multiplex congenita was studied in a newborn thoroughbred foal. The syndrome affected only the left hind limb allowing the right hind limb to serve as a reference. There was a significant depletion of large motor neurons from the ventral horn of the spinal cord from L3 to S4 on the affected side. Hypoplasia of nerves, muscles, and bones was present in the affected limb. Histologically, hypoplasia and degeneration of myofibers and nerve bundles were seen. No cause of the syndrome, which corresponds to most human cases, was determined. Neuromuscular arthrogryposis was diagnosed because of the difficulty in distinguishing primary neuropathic from primary myopathic forms of the disease.

Animals↗
PubMed1989

Ovine arthrogryposis and central nervous system malformations associated with in utero Cache Valley virus infection: spontaneous disease.

Gross appearance and histologic lesions seen in 15 newborn lambs in an outbreak of congenital arthrogryposis with hydrocephalus or hydranencephaly (CAH) in Texas are described. Severe arthrogryposis with skeletal muscle hypoplasia was seen in limbs of affected lambs. Spinal column deformities were also present. Multiple central nervous system (CNS) malformations were present in CAH lambs including micrencephaly, cerebellar hypoplasia, micromelia, hydrocephalus, hydranencephaly, and porencephaly. Histologic lesions consisted primarily of areas of necrosis and loss of the paraventricular neuropil and motor neurons in the CNS and a resolving myositis with poorly developed myotubular myocytes in skeletal muscle. Seroepidemiologic studies on the flock and serologic data from heart blood taken from the stillborn affected lambs indicated that the outbreak was due to in utero infection with Cache Valley Virus.

Animals↗
PubMed1997

Intraoperative convulsions in a child with arthrogryposis.

A case of intraoperative convulsions occurring in a child with arthrogryposis multiplex congenita is presented. Arthrogryposis and the anaesthetic management of children with this condition is discussed. Factors which may have contributed to the convulsions are considered.

Anesthetics, Inhalation↗
PubMed2005

Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion.

We report a case of neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence in association with a chromosome 22q11.2 deletion in a 5-month-old boy, the only child of a non-consanguineous couple without relevant antecedents. Specifically, polymerase chain reaction amplification of microsatellite markers revealed a noninherited microdeletion in position D22S306. This phenotype has not been reported previously in association with chromosome 22q11.2 deletions, and these findings raise the possibility that at least some cases of neurogenic arthrogryposis multiplex congenita might be due to genetic defects of this type.

Arthrogryposis↗