The clinical manifestations and pathomechanics of contracture of the extensor mechanism of the knee.
Experience with thirty-eight Asian children and adolescents who presented with either stiffness of the knee, genu recurvatum, habitual dislocation of the patella or congenital lateral dislocation of the patella showed that all those disorders were manifestations of contracture of the extensor mechanism, which fell into two groups according to the components involved. In Group I the main components affected were in the midline of the limb, namely rectus femoris and vastus intermedius; these patients presented with varying degrees of stiffness of the knee, or worse, with genu recurvatum. In Group II the main components involved were lateral to the midline of the limb, namely vastus lateralis and the ilio-tibial band; these patients presented with habitual dislocation of the patella, or worse, congenital lateral dislocation of the patella. In both groups untreated patients developed secondary adaptive changes such as subluxation of the tibia or marked genu valgum which made operative procedures more formidable and less effective. Release of the contracture should therefore be performed as early as possible. (+info)
Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice.
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. (+info)
Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.
We recently described an autosomal dominant inclusion-body myopathy characterized by congenital joint contractures, external ophthalmoplegia, and predominantly proximal muscle weakness. A whole-genome scan, performed with 161 polymorphic markers and with DNA from 40 members of one family, indicated strong linkage for markers on chromosome 17p. After analyses with additional markers in the region and with DNA from eight additional family members, a maximum LOD score (Zmax) was detected for marker D17S1303 (Zmax=7.38; recombination fraction (theta)=0). Haplotype analyses showed that the locus (Genome Database locus name: IBM3) is flanked distally by marker D17S945 and proximally by marker D17S969. The positions of cytogenetically localized flanking markers suggest that the location of the IBM3 gene is in chromosome region 17p13.1. Radiation hybrid mapping showed that IBM3 is located in a 2-Mb chromosomal region and that the myosin heavy-chain (MHC) gene cluster, consisting of at least six genes, co-localizes to the same region. This localization raises the possibility that one of the MHC genes clustered in this region may be involved in this disorder. (+info)
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures.
Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of weakness in 36 adult patients. Our analysis shows that nearly all children exhibit weakness or contractures during the first 2 years of life. Early features include diminished foetal movements, neonatal hypotonia and congenital contractures which are of a dynamic nature during childhood. The course of Bethlem myopathy in adult patients is less benign than previously thought. Due to slow but ongoing progression, more than two-thirds of patients over 50 years of age use a wheelchair. (+info)
Pentazocine-induced fibromyositis and contracture.
We report a case of myopathy, accompanied by widespread contractures predominantly involving the elbow and knee joints, following long-standing pentazocine abuse. (+info)
The medial approach for operative release of post-traumatic contracture of the elbow.
We treated post-traumatic contracture of the elbow in 13 consecutive patients (14 elbows) by operative release. Through a single medial approach, the posterior oblique bundle of the medial collateral ligament was resected, followed by posterior and anterior capsulectomies. An additional lateral release through a separate incision was required in only four elbows. The results were assessed at a mean interval of 57 months after operation. Before surgery active extension lacked 43 degrees which improved to 17 degrees after operation. Active flexion before operation was 89 degrees, which improved to 127 degrees. The mean arc of movement increased from 46 degrees to 110 degrees. All 14 elbows showed scarring of the posterior oblique bundle of the medial collateral ligament. Neither the interval from injury to operative release nor the age of the patient affected the results. A medial approach is useful to reveal and excise the pathological changes in the medial collateral ligament. It is a safe and effective route through which to correct post-traumatic contracture of the elbow. (+info)
The effectiveness of turnbuckle splinting for elbow contractures.
We have treated 22 patients with an elbow contracture using a static progressive turnbuckle splint for a mean of 4.5 +/- 1.8 months. All had failed to improve with supervised physiotherapy and splinting. The mean range of flexion before splintage was from 32 +/- 10 degrees to 108 +/- 19 degrees and afterwards from 26 + 10 (p = 0.02) to 127 +/- 12 degrees (p = 0.0001). A total of 11 patients gained a 'functional arc of movement,' defined as at least 30 degrees to 130 degrees. In eight patients movement improved with turnbuckle splinting, but the functional arc was not achieved. Six of these were satisfied and did not wish to proceed with surgical treatment and two had release of the elbow contracture. In three patients movement did not improve with the use of the turnbuckle splint and one subsequently had surgical treatment. Our findings have shown that turnbuckle splinting is a safe and effective treatment which should be considered in patients whose established elbow contractures have failed to respond to conventional physiotherapy. (+info)
A case of congenital inverse Duane's retraction syndrome.
Inverse Duane's retraction syndrome is very uncommon. Congenital cases are even more unusual. A 6-year-old girl with convergent squint along with severe restriction on abduction is described. On attempted abduction, a narrowing of the palpebral fissure, upshoot and retraction of the eyeball were observed. Brain and orbit MRI demonstrated no intracranial or intraorbital mass, fracture, or entrapment of the medial rectus. Forced duction test was strongly positive. The primary lesion was found to be a tight medial rectus with shortening and soft tissue contracture. Surgical tenotomy of the medial rectus led to successful postoperative motility, but some limitation at full adduction and abduction persisted. This is a case reported with congenital medial rectus shortening, suggesting that this condition may be one of the etiologies of the rare inverse Duane's retraction syndrome. (+info)