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We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.
We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported in 1973 by Lutz-Richner and Landolt and again in another family by Nezelof et al in 1979. However, because of differing liver histology the two sibships were considered to have two separate conditions. Based on the histological findings in one of our cases we propose that all cases described so far represent variation within a single syndrome.
Sixteen cases with arthrogryposis multiplex congenita were examined clinically and electromyographically; three of them were re-examined later. Joint deformities were present in all extremities in 13 of the cases; in eight there was some degree of mental retardation. In two cases, there was clinical and electromyographic evidence of a myopathic disorder. In the majority, the appearances of the shoulder-neck region suggested a developmental defect. At the same time, selective weakness of muscles innervated by C5-C6 segments suggested a neuropathic disturbance. EMG revealed, in eight of 13 cases, clear evidence of denervation of muscles, but without any regenerative activity. The non-progressive nature of this disorder and capacity for improvement in muscle bulk and power suggest that denervation alone cannot explain the process. Re-examination of three patients after two to three years revealed persistence of the major deformities and muscle weakness noted earlier, with no appreciable deterioration.
Pathological findings are reported on 34 specimens from 16 cases of arthrogryposis multiplex congenita (AMC), including initial observations on paraffin sections from 28 muscles, and subsequent observations on six additional specimens from three of these cases studied both histologically and histochemically. Thirteen of the 34 specimens (from 11 cases) were histologically normal, probably on account of an unaffected muscle being sampled. The most constant pathological feature in the remaining specimens was a disorganization of the muscle fibres and fascicles by severe fibrosis; only three specimens (from two cases) did not show this. Very thin faintly striated muscle fibres embedded in this matrix were encountered in 10 specimens from nine cases. An attempt at grouping of these atrophic or ill-developed fibres was noticed in four specimens; but this may not be denervation atrophy. Two specimens (from two cases) showed `myopathic' features. Repeat biopsy after two to three years was carried out on two affected muscles each from three patients. Case 3 showed well preserved but uniformly small fibres. Case 4 showed extremely few and scattered small rounded fibres. Case 14 showed pronounced variation of fibre size in both, with both atrophic and hypertrophied fibres. Normal nerves and spindles were seen in all these six specimens irrespective of the state of the muscle, and excessive fibro-fatty tissue in cases 4 and 14. Histochemical examination for oxidative enzymes, ATPase, and phosphorylase in these six specimens revealed a normal checkerboard pattern and ratio of type I and type II fibres, in case 3 only. The muscles of case 4 showed a preponderance of type I fibres. One specimen from case 14, showed the same fibres reacting for both oxidative enzymes and phosphorylase, suggesting a lack of development of fibres. The intrafusal fibres were mainly of type I in all. Two possible pathogenetic mechanisms operating in early embryonic life, which may lead to the characteristic changes of AMC, are discussed: (1) a defect in the development of the muscle whereby the full recruitment of myoblasts from the mesenchyme of the limb-bud does not take place and muscles do not form adequately; (2) a lack of innervation of the muscles on account of arrested growth of anterior horn cells. The combined operation of both these mechanisms is also considered. Fibrous tissue replaces the muscle tissue that is lacking, and contractures and deformities ensue. The evidence gathered on our material, such as the very thin smooth muscle fibres, the large numbers of well-formed nerves and spindles especially in the repeat biopsies, and the above-mentioned histochemical feature, would appear to favour the hypothesis of ill-developed muscles in the production of AMC in the majority; in the rest denervation playing either a major or concurrent role.
Of a family consisting of 54 members, 44 were examined. Twenty-one showed signs of a clinically non-progressive congenital lower motor neuron disorder restricted to the lower part of the body, which resulted in arthrogryposis in 15 cases. The mode of inheritance is autosomal dominant with very varied expression of the gene.
The congenital condition of arthrogryposis palatoschisis was found in two closely related Charolais calves and has subsequently been found in a number of other related animals. It would appear from this and earlier reports that the condition is inherited, possibly as an autosomal recessive. A 1/29 Robertsonian translocation was also found in one of the calves and this was inherited from its dam. It is considered that the two conditions are not directly related.
Arthrogryposis multiplex congenita (AMC), characterized by multiple joint contractures developing in utero, results from lack of fetal movement. Some cases are genetically determined, but AMC occasionally complicates pregnancy in patients with myasthenia gravis (MG) suggesting involvement of circulating maternal antibodies. We previously demonstrated antibodies that inhibited the function of fetal acetylcholine receptor (AChR) in one healthy woman with an obstetric history of recurrent AMC. Here we study sera from this woman, from one other with a similar history, and from three (one asymptomatic) whose babies had neonatal MG and AMC. All five maternal sera had high titers of antibodies that inhibited alpha-Bungarotoxin (alpha-BuTx) binding to fetal AChR, and their sera markedly inhibited fetal AChR function with little effect on adult AChR function. Moreover, in a further survey, 3 of 20 sera from anti-AChR negative AMC mothers inhibited fetal AChR function significantly at 1:100 dilution. These results demonstrate the role of antibodies to fetal AChR and perhaps other muscle antigens in some cases of AMC. More generally, they suggest that placental transfer of antibodies directed at fetal antigens should be considered as a cause of other recurrent fetal or perinatal disorders.
Arthrogryposis multiplex congenita (AMC) is characterized by fixed joint contractures and other deformities, sometimes resulting in fetal death. The cause is unknown in most cases, but some women with fetuses affected by severe AMC have serum antibodies that inhibit fetal acetylcholine receptor (AChR) function, and antibodies to fetal antigens might play a pathogenic role in other congenital disorders. To investigate this possibility, we have established a model by injecting pregnant mice with plasma from four anti-AChR antibody-positive women whose fetuses had severe AMC. We found that human antibodies can be transferred efficiently to the mouse fetus during the last few days of fetal life. Many of the fetuses of dams injected with AMC maternal plasmas or Ig were stillborn and showed fixed joints and other deformities. Moreover, similar changes were found in mice after injection of a serum from one anti-AChR antibody-negative mother who had had four AMC fetuses. Thus, we have confirmed the role of maternal antibodies in cases of AMC associated with maternal anti-AChR, and we have demonstrated the existence of pathogenic maternal factors in one other case. Importantly, this approach can be used to look at the effects of other maternal human antibodies on development of the fetus.
The important otolaryngological manifestations of arthrogryposis multiplex congenita (AMC), which heretofore have not been described in otolaryngological and other specialty journals, are reviewed. Thirty-seven patients with AMC were studied. Nine of these patients with neurogenic AMC, had otolaryngological manifestations. Six of these had Pierre Robin-like syndromes. Seven patients had severe dysphagia and aspiration pneumonitis. Five patients had voice changes, and three of these required tracheotomy to relieve laryngeal obstruction and prevent aspiration. Two of these patients were aphonic and had laryngeal paralysis. Three of the nine patients who had laryngeal examination showed supraglottic narrowing similar to laryngomalacia. Six patients with otolaryngological problems were autopsied, and two had pharyngeal biopsies. The histological examination demonstrated normal laryngeal and pharyngeal musculature. The cricoarytenoid joints were found normal in all the larynges examined. Central nervous system dysfunction rather than simple muscle weakness, caused the dysphagia and respiratroy difficulties in patients with neurogenic AMC. Dysphagia with aspiration was the single most important cause of death in approximately 20% of patients with AMC. A tracheotomy and feeding gastrostomy appears essential for successful management of the otolaryngological complications of AMC.
Arthrogryposis multiplex congenita (AMC) is a rare congenital disorder characterized by multiple fixed-joint deformities of the upper and lower extremities. Those afflicted with the more common neurogenic form of AMC can have otolaryngologic manifestations. Here, a case of AMC with severe otolaryngologic manifestations is reported. The clinically relevant findings included an expressionless face, micrognathia, poor suck reflex, high arched palate, and an omega-shaped epiglottis, but otherwise normal larynx, trachea, and esophagus by endoscopic examination. Airway compromise, achalasia, aspiration pneumonitis, and poor nutrition were constant problems. Tracheostomy and gastrostomy were subsequently placed, and the patient's clinical course eventually improved. Early involvement of the otolaryngologist and placement of a tracheostomy and gastrostomy are recommended in those patients with severe otolaryngologic manifestations of AMC.
Arthrogryposis multiplex congenita (AMC) is a rare congenital syndrome consisting of two or more joint contractures in different parts of the body. Otolaryngological abnormalities have been previously described in a significant proportion of cases. However, to date, the only frequent otologic deformity recorded in the published literature has been low-set ears. We present a case with a combination of AMC and a bilateral conductive hearing loss due to an unusual middle ear deformity. To our knowledge, no such case has been previously reported.
Limb abnormalities in 30 calves with an inherited congenital neuromuscular disorder known as syndrome of arthrogryposis and palatoschisis were classified according to the range of severity of joint deformity in either flexion or extension, and restricted joint movement. Joint movement was variably affected; it was either normal, lax, restricted in the range of mobility, or occasionally, fixed. The characteristic findings were: bilateral hyperextension of the hind fetlock, flexion deformity of the forelimb that particularly involved the fetlock and the carpus, with restricted articular movement and complete rigidity in some cases. One-third of calves also had medial deviation of the forelimb due to angular deformity of articular surfaces in the carpus. All nine live calves were floppy due to marked generalized muscular hypotonia. Birth weight of deformed calves was reduced. In some calves muscle development was impaired as judged by muscle weight, and histological examination. In some calves the gross appearance, muscle weight and histological examination revealed no abnormal development and indicated that the effects on skeletal muscle were secondary. No lesions were found in the spinal cord of 23 of 24 calves examined histologically. The remaining calf had a localized cavitation in the dorsal white matter at T2-3. Based on the observations in calves in this study it is proposed that both primary and secondary factors contribute to the phenotypic expression of this congenital deformity. The primary lesion is considered to be a neurogenic abnormality of differentiation in the central nervous system. Cytogenetic analysis of 16 carrier cows and two deformed calves showed normal karyotypes. Serology for Akabane virus in 16 carrier cows was negative.
Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interesting because she developed Wilms' tumor at 21 months of age. To our knowledge, this is the first case of this association reported in the literature.
An epizootic of abortions, weak lambs, stillbirths, and congenital arthrogryposis-hydranencephaly occurred in a sheep flock in West Texas. The outbreak began during the first week of January 1987 and continued through the third week of February 1987. Lambs born after February 1987 were not affected. A high incidence of antibodies to Cache Valley virus (Texas 7856 isolate) was demonstrated in the ewes' serum and in precolostral serum from affected lambs. No virus was isolated from tissues and body fluids of the affected lambs. The clinical, pathological, and immunological features of the epizootic were similar to those reported in Akabane virus infection in sheep. Although serological findings strongly suggest Cache Valley virus as the etiological agent of this outbreak, transmission studies are needed.
As initial surgical management for rigid equinovarus deformities, 16 children with arthrogryposis (30 involved feet) and 16 myelodysplastic children (26 involved feet) underwent primary talectomies or extensive posterior-medial releases (PMR). When compared with primary PMRs in arthrogrypotic children, primary talectomies revealed a greater number of good and fair results, decreased recurrence rates, less procedures per foot, and maintenance of ambulatory status. Recurrent forefoot and cavus deformities were present after primary talectomies. Primary talectomy in arthrogrypotic children was more effective than posterior-medial releases or secondary (salvage) talectomy. Because of the small number of feet involved, the role of primary talectomy in myelomeningocele was not clarified by this study. Radical PMRs in myelodysplastic children resulted in a significant number of hindfoot valgus deformities that required secondary procedures.
PURPOSE: Arthrogryposis multiplex congenita (AMC) is a rare syndrome with multiple joint contractures. It is commonly believed that bilaterally dislocated hips associated with joint contractures should not be reduced, because movement is satisfactory, while open reduction leads to poor results. This report presents our experience with surgical management of bilateral dislocation of hips in children with AMC. METHODS: During the period 1990 to 2000, we performed open reduction on 8 hips of 4 children with AMC. The mean age at surgery was 23 months (range, 5-48 months). Open reduction and capsular plication without any bony procedure were performed in 4 hips (2 patients). De-rotation and varus osteotomy of the femur was performed in 4 hips, and Salter osteotomy of the innominate bone in 2 hips. The average acetabular index was 44 degrees, and the mean centreedge angle was -41 degrees preoperatively. RESULTS: The average follow-up period was 4 years (range, 2-9 years). The average acetabular index and centre-edge angle were 19 and 18 degrees, respectively at the time of last follow-up. All children could walk without support. One child required re-opening for redislocation of hip joint. The clinical results were good in 6 hips and fair in 2 hips, according to Severin's and McKay's classifications. CONCLUSION: Our experience shows that open reduction for bilateral dislocation of hips in children with AMC is a suitable option with generally good results. Surgery performed at earlier age gives the best functional outcome.
We describe a 37-week gestational age infant who presented with lethal arthrogryposis multiplex congenita due to complete absence of peripheral nervous system (PNS) myelin. Schwann cells accomplished successful developmental proliferation, migration, axonal ensheathment, basal lamina production, and subsequent cessation of proliferation, but failed in spiral lengthening and longitudinal growth. Internuclear distance was very short, resulting in marked Schwann cell hypercellularity. No supernumerary Schwann cells (onion bulbs) were found. No PNS myelin proteins (P0, P1, MAG) were detected by immunocytochemical methods, and the Schwann cells adopted many morphologic features characteristic of unmyelinated nerves. The defect appears to be an arrest in Schwann cell differentiation at the stages of mesaxon elongation and longitudinal growth.
Sixty-six deformities of the foot and ankle in forty-two patients with arthrogryposis multiplex congenita were reviewd. Pes equinovarus proved particularly difficult to treat as there was a tendency for the deformity to recur because of the thick and rigid capsule. Intracapsular procedures were more successful than those done adjacent to the joint. Wide capsulotomy or talectomy were the best procedures under the age of three years and triple arthordesis was most successful for the older child.