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At least 181 records · Page 10Linked to original sources
PubMed1976

Epizootic congenital arthrogryposis-hydranencephaly syndrome in cattle: isolation of Akabane virus from affected fetuses.

Previous serolgoical studies strongly suggested Akabane virus to be the etiologic agent of epizootic abortion and congenital arthrogryposis-hydranencephaly in cattle, and this view was further corroborated in this study by the isolation of the virus from an aborted fetus in an epizootic of the disease and from a fetus extracted froma cow which was suggested by serologic tests to have a recent infection with the virus. The latter fetus had histological changes of encephalomyelitis and polymyositis, and specific antigens of Akabane virus was shown by the immunofluorescent technique in brain tissues as well as skeletal muscular tissues. The virus was recovered from various fetal tissues and fluids, and in relatively large amounts from brain, spinal cord, cerebral fluid, skeletal muscles and fetal placenta. The intracranial inoculation of suckling mice, 1-2 days of age, was the most sensitive system for Akabane virus isolation and HmLu-1, a continuous cell line from hamster lung, seemed almost as sensitive as suckling mice.

Abortion, Veterinary↗
PubMed1991

A family with severe X-linked arthrogryposis.

Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The sole living child has severe psychomotor retardation. Several female carriers show mild features (clubfeet, contractures, hyperkyphosis, and slight muscle weakness). One manifesting carrier is affected more severely (multiple contractures, mental retardation, and various dysmorphic features). Additional investigations including muscle biopsy revealed none of the usual signs of denervation, and pointed to the presence of a degenerative muscle disorder.

Arthrogryposis↗
PubMed1987

Anaesthesia in arthrogryposis multiplex congenita: case report.

The anaesthetic management of an 11-year-old male with arthrogryposis multiplex congenita (AMC) with myopathic features is described. The child presented with an obstructing renal calculus and a pyelolithotomy via an anterior transverse subcostal extraperitoneal incision was performed. In view of the associated hypoplastic musculature, severe scoliosis and expected increased sensitivity to various sedatives and inhalational anaesthetic agents, low-dose ketamine (10-15 micrograms X kg-1 X min-1) was administered by continuous infusion, with a satisfactory result.

Anesthesia, Intravenous↗
PubMed2004

A new form of congenital proprioceptive sensory neuropathy associated with arthrogryposis multiplex.

We report two siblings who presented with non-progressive marked sensory ataxia associated with arthrogryposis multiplex congenita (AMC). Deep tendon reflexes and H reflex were completely absent, but F waves were preserved. The sensory nerve conduction studies indicated the presence of relatively mild sensory polyneuropathy. The conventional somatosensory evoked potentials (SEPs) showed mildly prolonged latency for both the peripheral and cortical responses, suggesting a slowed conduction through the peripheral as well as central pathway. However, the 'proprioceptive SEPs' were absent, in conformity with complete loss of joint sense. Sural nerve biopsy revealed only mild thinning of myelin in the younger sister but was entirely normal in her brother. Taken together with the characteristic electrophysiological findings, the symptoms were considered to be due to predominant involvement of a selective population of somatosensory ganglions. The present cases showed no progression of the neurological deficit what-so-ever since birth, which strongly suggests a developmental anomaly or aplasia of a limited population of peripheral sensory neurons.

Action Potentials↗
PubMed2006

A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

Distal arthrogryposis (DA) is composed of a group of clinically and genetically heterogeneous disorders, characterized by multiple congenital contractures of the limbs. Point mutations in three genes encoding contractile fast-twitch myofibers, TPM2, TNNI2 and TNNT3, were recently identified in DA type 1 (DA1; MIM 108120) and DA type 2B (DA2B; MIM 601680). We have described a large Chinese DA family in which different individuals had phenotypes similar to DA1 or DA2B. To map the disease locus in this family, two-point linkage analysis was first performed using microsatellite markers selected from the genomic regions close to the TPM2, TNNI2/TNNT3 and TNNC2 genes. A positive LOD score of 3.61 at theta = 0 was obtained with the marker close to the TNNI2/TNNT3 genes, corresponding to the genetic mapping site of DA2B. Direct sequencing of the PCR-amplified DNA fragment spanning exon 8 of the TNNI2 gene showed a heterozygous deletion, c.523_525delAAG (p.K175del), in the proband. This novel mutation was confirmed to cosegregate with the DA phenotype in affected individuals but not detected in all unaffected individuals of the family and not in 50 healthy controls. In summary, we have found a novel TNNI2 mutation in a Chinese family with DA2B. Our work represents the first report on the link between TNNI2 and the DA phenotype in Chinese.

Arthrogryposis↗
PubMed1986

Hereditary peroneal muscular atrophy in the mouse: an experimental model for congenital contractures (arthrogryposis).

A new mutant, peroneal muscular atrophy (pma) mouse in CF#1 strain has an autosomal recessively inherited equinovarus (club foot deformity) of the hind legs because of the absence of the common peroneal nerve branch of the sciatic nerve. We found the peroneal muscles were hypoplastic with histochemical and electron microscopic characteristics of fetal muscle. The anterior horn cells in the spinal cord were not reduced in number and they appeared to be normal. The density and size of the myelinated fibers in the anterior spinal roots of L3, L4, and L5 and the sciatic nerve in the affected side were not different from those in the unaffected. Therefore, the absence of the common peroneal nerve in the pma mouse is thought to result from the misdirection of these nerve bundles into other peripheral nerves. As the anomalous condition was present at birth with no progression, the pma mouse may be an experimental model for the study of arthrogryposis multiplex congenita or club foot deformity, and may lead to the understanding of the muscle and nerve interaction during development.

Animals↗
PubMed1978

Neuropathic form of arthrogryposis multiplex congenita. Report of 3 cases with complete necropsy, including the first reported case of agenesis of muscle spindles.

In 3 infants with arthrogryposis multiplex congenital (AMC) complete necropsy, including removal of the entire spinal cord, was performed. Histologically, spinal type (neurogenic) atrophy of skeletal muscles in conjunction with spinal motor neurone depletion, unaccompanied by noticeable gliosis, were the most preminent features common to all cases. In addition to these, one infant (Case 1) showed total absence of muscle spindles as evident from the examination of several hundred step-serial paraffin sections covering 11 different levels in 36 samples taken from a wide range of skeletal muscles of both upper and lower extremities. This is believed to be the first published case of agenesis of muscle spindles.

Arthrogryposis↗
PubMed1989

Myopathic form of arthrogryposis and microcirculation lesion.

A microvascular lesion characterized by extensive platelet aggregation, thrombosis, vascular damage with hemorrhages was found in the muscle of a 2-month-old boy with a myopathic form of the arthrogryposis syndrome. The lesion morphologically resembled the vascular leakage seen in immunologically mediated tissue injury. A degradative effect of proteases released during platelet and neutrophil aggregation on the muscle and joints is suggested.

Arthrogryposis↗
PubMed1988

Arthrogryposis multiplex congenita of the temporomandibular joint.

A case of arthrogryposis multiplex congenita involving the temporomandibular joint is reported. This is only the second reported case in which surgery was used in an attempt to alleviate the limited mandibular opening that may be associated with this uncommon condition. The clinical findings at the time of surgery differed significantly from those classically associated with other joints afflicted with this condition, suggesting that a different pathophysiologic mechanism may be involved.

Adult↗
PubMed1988

Arthrogryposis multiplex congenita: otolaryngologic diagnosis and management.

Arthrogryposis multiplex congenita (AMC) is an uncommon congenital disorder characterized by multiple fixed joint deformities and non-progressive neuromuscular dysfunction. A small fraction of these infants will present with otolaryngologic problems resulting from cranial nerve weakness, muscle dysplasia, or structural dysharmony of the head and neck. The charts of 50 patients with AMC were reviewed to determine the incidence of these findings. A summary of the literature is presented discussing the etiology, pathophysiology, diagnosis and management of this interesting clinical problem.

Arthrogryposis↗
PubMed1993

Early corrective surgery of the wrist and elbow in arthrogryposis multiplex congenita.

An early one-stage corrective surgical procedure for the elbow and wrist of patients suffering from arthrogryposis multiplex congenita is advocated. The procedure involves adequate proximal row carpectomy, tendon transfers to achieve a balanced wrist and a triceps to radius transfer for elbow flexion. Experience with 47 limbs showed that the best results were obtained in children operated on between 3 and 6 months of age.

Age Factors↗
PubMedDate not supplied

Neurogenic arthrogryposis multiplex congenita: clinical and MRI findings.

A clinical and magnetic resonance imaging (MRI) study on a selected group of 11 children, with a diagnosis of neurogenic arthrogryposis multiplex congenita (AMC) based on clinical, electromyographic, and muscle biopsy findings, is presented to determine the extent of central nervous system involvement in AMC. Family history, pregnancy, perinatal problems, other abnormalities, and epileptic seizures were reviewed. Neurologic examination, electroencephalography, intellectual assessment, and MRI study both of spinal cord and brain were performed. The clinical and laboratory findings disclosed evidence of spinal cord lesions with involvement of anterior horn cell function in all patients, and impairment of cerebral function in 5 patients. MRI revealed spinal cord atrophy in 3 patients, diffuse atrophy in 2 patients, and involved thoraco-lumbar segments in 1 patient. Cranial MRI studies demonstrated features of developmental brain abnormalities in 3 patients, cortical frontal atrophy in 2, and was normal in 4. In neurogenic AMC patients, MRI examination of the spinal cord and brain may help to clarify the pathogenesis of the disease and is helpful for prognostic and therapeutic purposes.

Adolescent↗
PubMed1995

Arthrogryposis multiplex congenita due to congenital myasthenic syndrome.

Two children, now 5 1/2 and 6 years of age, presented as neonates with hypotonia, multiple joint contractures, ptosis, extraocular weakness, bulbar symptoms, and respiratory distress. Fluctuations and episodic exacerbations of weakness necessitated respiratory support. Both children are developmentally delayed and cannot walk independently, although one child underwent bilateral tenotomies. Biochemical investigations and electromyography, including slow-rate, repetitive nerve stimulation, were normal. Acetylcholine receptor antibodies in serum were absent. Single-fiber electromyography with axonal stimulation revealed prolonged mean jitter in the tibialis anterior and extensor digitorum muscles, with more than 2 abnormal individual jitter values in each muscle. Muscle biopsy demonstrated normal pattern and morphology of muscle fibers; immunohistochemical staining for cholinesterase was positive. Electron microscopy revealed abnormalities in motor endplates: atrophy, flattening of primary synaptic clefts, and paucity of side branches. These findings represent one of the postsynaptic abnormalities (i.e., acetylcholine receptor deficiency or paucity of synaptic folds). Both children improved clinically on pyridostigmine therapy. Arthrogryposis congenital multiplex due to congenital myasthenic syndrome, as diagnosed in our patients, has been reported once before. The diagnosis can be established by clinical history, neurologic examination, and electrophysiologic and pathologic findings. Clinical improvement can be achieved with high-dose anticholinesterase therapy.

Arthrogryposis↗
PubMed1995

Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother.

We report a sibship in which the syndrome of congenital arthrogryposis occurred in two male and two female neonates, three of whom died. The mother was asymptomatic at the time of the first pregnancy and the subsequent development of muscle weakness was later confirmed to be due to myasthenia gravis. The literature on this association is briefly reviewed and the extremely high risk of recurrence of this complication in subsequent pregnancies is addressed.

Adult↗
PubMed2005

Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia.

We report the autopsy case of a boy with arthrogryposis multiplex congenita, associated with callosal agenesis and dentato-olivary dysplasia. The patient manifested with dysmorphic facial features and suffered from intractable epilepsy during the neonatal period. These sets of complications suggest that a common molecular mechanism may be involved in the development of corpus callosum and the folding of the dentate and inferior olivary nuclei. Deep brain structures, including the brainstem and the cerebellum, may be involved in the pathophysiology of symptomatic generalized epilepsy. The differential diagnoses for the clinical and pathological characteristics of this patient are discussed.

Agenesis of Corpus Callosum↗
PubMed2005

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

Linkage mapping in a three-generation family with a distal arthrogryposis (DA) phenotype intermediate between DA2A and DA1 indicated linkage to 11p15.5 but not 9p13. Follow up DNA sequencing of the TNNI2 gene detected a three base pair deletion that would be predicted to result in the deletion of a glutamic acid at codon position 167 (DeltaE167). This mutation, like the two previously described TNNI2 mutations, is located in the carboxy-terminal domain and thus supports the existence of a TNNI2 critical region sensitive to alteration that will give rise to DA. Physical examination of family members confirms the high degree of variability in expression amongst mutation carriers.

Arthrogryposis↗