Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ARTHROGRYPOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 199 records · Page 11Linked to original sources
PubMed2004

Arthrogryposis multiplex congenita: functional classification and the AMC disc-o-gram.

The arthrogryposis multiplex congenita (AMC) disc-o-gram is presented as a way to measure the effect of hand therapy, splinting and/or surgery on the AMC patient. It also allows comparative measurement of passive motion (in the baby), active motion (in the young child) and function (in the older child and adult). These measurements are related to a new classification system which, as movement and function improves, indicates the efficacy of management.

Adolescent↗
PubMed2005

Arthrogryposis multiplex congenita.

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.

Arthrogryposis↗
PubMed2006

Fetal arthrogryposis and maternal serum antibodies.

Arthrogryposis multiplex congenital (AMC) describes multiple joint contractures resulting from lack of movement in utero. Antibodies directed at the fetal isoform of the muscle acetylcholine receptor (AChR) have been reported in a small number of asymptomatic mothers of AMC babies. We examined sera from 179 mothers of AMC babies and 20 parous and non-parous controls to look for antibodies to AChR or undefined muscle or neuronal proteins. We found positive AChR antibodies in only three sera (1.5%) from asymptomatic AMC mothers. However, there was reactivity with muscle or with neuronal antigens in 33% of the sera, and reactivity to undefined neuronal antigens was more common in sera from mothers of AMC babies with CNS involvement (p=0.001) than those without. The offspring of mothers with AChR antibodies may benefit from treatment during pregnancy. Other maternal antibodies require further study, but these observations add to the emerging literature on maternal antibodies associated with developmental intrauterine disorders.

Adult↗
PubMed1997

Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet.

We report a 2-year-old boy with phosphofructokinase deficiency presenting in the newborn period with congenital arthrogryposis and severe myopathy, who has had significant improvement on a ketogenic diet since its institution at 4 months of age. We provide a rationale for use of this treatment and hypothesize it may be beneficial in other patients with phosphofructokinase deficiency and progressive muscular involvement. Confirmation awaits further clinical trials in carefully selected patients.

Arthrogryposis↗
PubMed1981

Surgical correction of thumb deformity in arthrogryposis multiplex congenita.

Four patients underwent surgical correction of five thumb deformities due to arthrogryposis. Although varying degrees of deformity were present, all exhibited adduction contracture, laxity of the ulnar collateral ligament at the metacarpophalangeal joint and absence of the abductor pollicis brevis. Techniques for release of the adduction contracture included Z-plasties or a local flap. Four thumbs had simultaneous opponensplasties performed and repair of the ulnar collateral ligament of the metacarpophalangeal joint. The patients have now been followed for an average of twenty-eight months (range 1 1/2 to 3 years). Parents and patients have been pleased with the results.

Arthrogryposis↗
PubMed1995

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen.

Fetal arthrogryposis multiplex congenita (AMC) is characterised by non-progressive multiple joint contractures, which may result in fetal death, and is heterogeneous in origin. It can associate with maternal myasthenia gravis and autoantibodies to muscle acetylcholine receptor (AChR). We found maternal antibodies that selectively inhibit the fetal form of the AChR in a mother who herself had no features of myasthenia gravis. Maternal autoantibodies specific for fetal antigens could be an unrecognised cause of other congenital disorders.

Adult↗
PubMed1985

Arthrogryposis multiplex complex involving the temporomandibular joint.

A case of arthrogryposis multiplex complex involving the temporomandibular joints is reported. The anatomy and physiopathology of the arthrogrypotic articulation are reviewed. The role of biomechanical factors in the development and maintenance of joint surfaces is discussed. Treatment modalities are proposed.

Arthrogryposis↗
PubMed1996

Incidence of maxillofacial involvement in arthrogryposis multiplex congenita.

PURPOSE: This study determined the incidence of maxillofacial involvement in patients diagnosed with arthrogryposis multiplex congenita (AMC). PATIENTS AND METHODS: Twenty-three patients were evaluated by the pediatric physical medicine and rehabilitation, orthopedic surgery, and pediatric oral and maxillofacial surgery departments. Any patient in whom the diagnosis of AMC was in doubt was excluded from the study. All patients with limited mandibular function underwent computed tomography (CT) examination of their temporomandibular joints (TMJ). The results of physical therapy were followed. RESULTS: Five of the 23 patients diagnosed with AMC were found to have maxillofacial involvement, eg, presence of cleft palate, Robin-like sequence, high-arched palate, open-bite deformity, facial muscle weakness, esophageal dysfunction, and limited mandibular opening. No TMJ abnormalities were found by CT scan. Physical therapy was used for treatment of the limited opening, but relapse occurred quicky after therapy was discontinued. CONCLUSION: The incidence of maxillofacial findings is similar to that of most other reports. Treatment involves surgical correction of abnormal anatomy when possible (ie, cleft repair), symptomatic management (ie, esophageal dysfunction), and physical therapy.

Adolescent↗
PubMed1980

Restoration of elbow flexion in arthrogryposis multiplex congenita.

In 15 patients with arthrogryposis multiplex congenita, 18 operations were performed to improve elbow function. These operations were for seven cases of pectoralis transfer, seven cases of anterior transfer of triceps, two cases of posterior elbow release, and two cases of Steindler flexoroplasty. Results were evaluated on two simple criteria: single-hand feeding and improved elbow joint motion. These criteria showed that the pectoralis transfer was the most effective procedure.

Arthrogryposis↗
PubMed1984

Arthrogryposis multiplex congenita in an infant with posterior agenesis of the corpus callosum.

A term male infant with arthrogryposis multiplex congenita and agenesis of the corpus callosum is described. Physical examination revealed multiplex dysmorphic features and fixed joints. A muscle biopsy showed type II fibers to be more than 12% smaller than type I fibers, consistent with the diagnosis of fiber type disproportion. The CT scan disclosed absence of the posterior corpus callosum and moderate atrophy of the cerebellar hemispheres. The pathogenetic mechanism for the muscle (and thus joint) abnormalities of this infant is discussed with respect to a central etiology.

Abnormalities, Multiple↗
PubMed1985

CT-scanning of skeletal muscle in arthrogryposis multiplex congenita.

CT-scanning of skeletal muscles was performed on 14 patients with arthrogryposis multiplex congenita (AMC), according to an eight-slice protocol. Adipose tissue replacement and atrophy of muscles was found in six patients with neurogenic or myopathic origin of AMC, associated with severe muscle weakness. In the remaining patients with other forms of AMC, in which muscle weakness was less marked or absent, muscular CT-scanning was normal. It is stated that muscular CT-scanning is not a routine investigation in a screening procedure of all cases of AMC. However, CT-scanning appears to be useful in cases of severe AMC with associated muscle weakness in detecting the neurogenic and myopathic forms. It also facilitates the selection of a suitable site for EMG and biopsy and may provide important information for orthopaedic management.

Adolescent↗
PubMed2000

Anesthetic management for patients with arthrogryposis multiplex congenita and severe micrognathia: case reports.

Arthrogryposis multiplex congenita (AMC) is a spectrum syndrome of multiple persistent limb contractures often accompanied by associated anomalies, including cleft palate, genitourinary defects, gastroschisis, and cardiac defects. Pediatric patients with AMC frequently present for multiple surgeries requiring general endotracheal anesthesia. We describe our anesthetic experience with the laryngeal mask airway and endotracheal tube in two neonates with AMC and severe micrognathia. We discuss AMC and outline the problems encountered in difficult airway management.

Anesthesia↗
PubMed2001

Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?

We describe a child who presented at birth with arthrogryposis. Following a muscle biopsy a diagnosis of congenital muscular dystrophy was made and a skin biopsy 12 years later confirmed the presence of merosin. Her clinical picture was unusual, however, for merosin-positive congenital muscular dystrophy. She had extreme wasting and weakness of her arms and legs. In contrast, she had good neck and trunk control, and no facial or respiratory muscle weakness. We have used magnetic resonance imaging to examine the pattern of muscle involvement in this case. No recognizable muscle could be identified in the limbs. In contrast, the axial muscles were preserved. This striking pattern of virtual absence of muscles in the limbs with sparing of the axial muscle suggests that a gene responsible for the migration and/or proliferation of limb muscle precursor cells may be involved in the disease process. It is recognized that merosin-positive congenital muscular dystrophy is a heterogeneous disease. Magnetic resonance imaging is a useful tool for examining in detail the pattern of muscle involvement and identifying individual phenotypes. Understanding more about which muscles are affected in children with congenital myopathies may provide information on the underlying pathological process and help in the search for candidate proteins and genes.

Arthrogryposis↗
PubMed1997

Arthrogryposis multiplex congenita and bilateral mid-brain infarction following maternal overdose of co-proxamol.

We report a case of arthrogryposis multiplex congenita secondary to fetal hypokinesia in a 41-week gestation infant following antenatal central nervous system injury. The mother's pregnancy was complicated by an episode of attempted self harm, with an overdose of co-proxamol at 22 weeks of gestational age, and by the use of cocaine in combination with excess alcohol intake. Magnetic resonance imaging showed bilateral mid-brain cysts and marked atrophy of the basal ganglia and thalami.

Acetaminophen↗
PubMed2004

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity. Platelet dysfunction is common. Affected infants do not thrive and usually die in the first year of life. To elucidate the molecular basis of ARC, we mapped the disease to a 7-cM interval on 15q26.1 and then identified germline mutations in the gene VPS33B in 14 kindreds with ARC. VPS33B encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion.

Arthrogryposis↗
PubMed2004

Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS).

The clinical features of Prader-Willi Syndrome (PWS) in the neonate are marked by hypotonia, absence of crying, and feeding difficulties, but the clinical nature of PWS in utero remains unclear. We report a case of PWS with fetal immobility and distal arthrogryposis in a girl admitted the first day of life to the neonatal intensive care unit for severe hypotonia and respiratory distress.

Arthrogryposis↗
PubMedDate not supplied

Arthrogryposis, hydranencephaly and cerebellar hypoplasia syndrome in neonatal calves resulting from intrauterine infection with Aino virus.

To determine the teratogenic potential of Aino virus (AINOV) in cattle, pregnant cows and fetal cattle were infected with a fresh isolate of AINOV. Five pregnant cows were inoculated intravenously with the virus at 122 to 162 days of gestation and allowed to give birth. All of the cows developed neutralizing antibodies to the virus, indicating that the cows had been infected with the virus; however, no clinical abnormalities were seen in their six newborn calves, and no specific antibodies to the virus were detected in the precolostral serum of calves. Five fetuses with fetal ages ranging from 132 to 156 days were inoculated in utero with the virus. One weak newborn and four stillborn calves were delivered at gestation days 256 to 263, i.e., less than the standard gestation term; they had congenital abnormalities including arthrogryposis, hydranencephaly and cerebellar hypoplasia. Antibodies specific to AINOV were detected in their precolostral serum. These results demonstrate that AINOV is a potential etiological agent of congenital malformation of cattle.

Abnormalities, Multiple↗