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We herein describe a Japanese family suffering from autosomal dominant limb-girdle muscular dystrophy showing a later onset and a predilection for males. All patients developed a plantar flexion contracture of the ankles when no distal muscular weakness was evident. The serum creatine kinase activity was remarkably elevated to 55 times the normal value. These clinical features suggest a novel phenotype.
A newborn boy with congenital contractural arachnodactyly (CCA) was found to have an atrial septal defect, ventricular septal defect, patent ductus arteriosus, and aortic arch anomalies. These resulted in congestive failure but subsequent progressive dilatation of both great arteries and development of aortic regurgitation were associated with eventual cardiorespiratory failure and death at 11.5 months. Others have noted that cardiac anomalies in CCA may be comparable with those of infantile Marfan's syndrome. Our case further extends the spectrum of cardiac abnormalities in CCA and substantiates that there is overlap with infantile Marfan's syndrome. This fact and our literature review suggest that early and complete cardiac assessment is necessary for appropriate management and evaluation of prognosis in any newborn infant with findings suggestive of either condition.
Reported alcohol consumption was quantified and scored by a validated questionnaire administered by an interviewer to 64 patients (10 female) with Dupuytren's contracture (DC) before hand surgery and to 89 controls (44 female) admitted for other hand or foot surgery. Serum urate (SUA), gamma-glutamyl transferase (GGT), and mean red cell volume (MCV) were measured on admission. Thirteen of 54 men with DC reported current daily alcohol intake of 40 g or more compared with one of 45 male controls (p = 0.0001). Two of 10 women with DC (but none of 44 controls) admitted consuming at least 40 g alcohol daily (p = 0.03). MCV was higher in men (but not women) with DC than in controls (p less than 0.0005). Current alcohol consumption score of patients with DC correlated with SUA (r = 0.308, p less than 0.05), MCV (r = 0.44, p less than 0.01), and GGT (r = 0.54, p much less than 0.001) on admission. DC among men is strongly associated with heavy drinking, reflected both in self reporting and haematological data.
We describe a male neonate with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, micrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and ocular abnormalities. Severe cardiac valve insufficiency and aortic dilatation resulted in cardiac failure and death 20 hours after birth. This case represents the severe end of the clinical spectrum of Marfan syndrome. As similar patients have been reported, they may represent a separate mutation.
We report on two severely mentally retarded male children of consanguineous parents who seem to be affected by an identical syndrome. The main physical anomalies are typical facial stigmata with a broad nasal bridge, a bulbous nose, upward slanting palpebral fissures, microretrognathia, low hair line, and large ears with an incompletely developed upper helix. In addition, both brothers had hypospadias type II, limb contractures, and delayed bone age. One child had a bilateral cleft lip with cleft palate and cryptorchidism, and developed scoliosis during adolescence. The other had bilateral inguinal hernias and strabismus. Chromosome analysis showed a normal karyotype in both. The striking similarity between the brothers, the dissimilarity to other known syndromes, and the parental consanguinity argue in favour of a new, hitherto undescribed, possibly autosomal recessive syndrome.
The lethal congenital contracture syndrome (LCCS) is an autosomal recessive syndrome (McKusick 253310) leading to perinatal death owing to early onset degeneration of the anterior horn motor neurones of the spinal cord. The neuropathological findings in the LCCS closely resemble those of spinal muscular atrophy (SMA). Since all the three types of SMA have been localised to the same gene locus on the long arm of chromosome 5, we analysed samples from seven families with 10 LCCS fetuses with the microsatellite markers assigned to the SMA 5q region. Linkage analyses between the SMA linked DNA markers and the disease allele in the LCCS families excluded the critical chromosomal region around the SMA locus as the critical chromosomal region for the LCCS locus.
Malignant hyperthermia (MH) is an inherited skeletal muscle disorder and is one of the major causes of death resulting from anaesthesia. MH is currently diagnosed by the in vitro contracture test performed on a muscle biopsy. Genetic linkage analysis on an Irish MH pedigree showed that when the thresholds for the standardised European protocol for MHS diagnosis was applied, linkage between the MHS phenotype and the RYR1 locus was excluded. When we raised the threshold values for assignment of MHS status and assumed MHN diagnosis in subjects where this threshold was not attained, tight linkage between MHS and RYR1 markers was observed, suggesting that MHS is linked to the RYR1 locus in this pedigree. Confirmation of these results was borne out by the fact that all of the MHS patients in the pedigree exceeding the raised threshold carried the known MHS Gly341Arg RYR1 mutation. The results obtained could be explained (1) by false positive diagnosis of MHS in the recombinant subjects, (2) by the presence of a mutation in a predisposing gene other than RYR1, or (3) by the presence of mild subclinical myopathies. The implications of these results for heterogeneity studies is discussed.
A new form of congenital myasthenia is described. An infant whose foetal movements during pregnancy had been weak presented at birth with muscle weakness and multiple contractures of the lower limbs. The clinical course was characterised by myasthenic crises during febrile illnesses. Neurophysiological studies demonstrated a decremental response at 2-3 HZ stimulation; this effect was reversed by edrophonium iv. At the age of eight months, a biopsy from the soleus muscle showed a predominance of type I fibres and variation in fibre diameters was slightly increased. Ultrastructural studies of the motor endplates revealed a marked reduction of post-synaptic membrane lengths with paucity of secondary clefts. Signs of focal degeneration were absent. The picture was reminiscent of foetal neuromuscular junctions. A developmental disorder of the postsynaptic membrane was considered to be the basic cause of the neuromuscular transmission defect.
Three cases of hand contractures due to Parkinson's disease and possible mechanisms that may be involved in their pathogenesis are described.
Severe generalized myalgias and muscle contractures of the lower extremities were the major initial manifestations of adrenal insufficiency in a 26 year old black male. The intensity of increased skin pigmentation was not fully appreciated until the patient's skin colour was compared to that of his brother. Replacement with physiological doses of gluco- and mineralocorticoids was associated with complete amelioration of symptomatology.
We report a case of myopathy, accompanied by widespread contractures predominantly involving the elbow and knee joints, following long-standing pentazocine abuse.
A case with spontaneous extensor tendon dislocation was treated operatively. Right hand was more severely affected with contracture of the metacarpophalangeal joints. Centralisation of the extensor tendons and sectioning of ulnar intrinsic muscles sufficed correction of the pathology. No recurrence occurred in the last 24 months.
We have measured the relaxation of rat mesenteric small arteries (internal diameter ca. 200 micron) from a potassium contracture under conditions where the transplasmalemmal sodium gradient was altered. Adjustment of the sodium gradient was made either by exposing vessels to ouabain (1 mM) for different periods to vary the intracellular sodium concentration (Nai), or by varying the sodium concentrations of the relaxation solutions (Nao). Under normal conditions (where we have previously shown Nai is about 19 mM), vessels relaxed completely within 1 min in low sodium solutions (Nao = 25 mM) using either sucrose, choline-Cl or MgCl2 as substitutes. However, the relaxation (measured after 1 min) was reduced when sucrose substitution was used, and further experiments were made using this substitute. Here it was found that exposing vessels to ouabain, for example 90 min (thus increasing Nai to about 73 mM) and then performing the relaxation in a low sodium solution gave only about 50% relaxation after 1 min. Experiments with intermediate sodium concentrations in the relaxation medium showed that reduction to 100 mM had no significant effect on the relaxation, and that it was only below 50 mM that effects were most marked. The effects of altered sodium gradient were eliminated if the calcium concentration of the relaxation medium was zero. The results indicate that under normal physiological conditions, small changes in sodium gradient have little effect on calcium metabolism of rat mesenteric small arteries, but also that under extreme conditions net calcium extrusion does appear to be reduced by a reduced sodium gradient.
Infrapatellar Contracture Syndrome (IPCS) is an infrequently recognized cause of posttraumatic knee morbidity. Unique to this group of patients is the combination of restricted knee extension and flexion associated with patella entrapment. IPCS can occur primarily as an exaggerated pathologic fibrous hyperplasia of the anterior soft tissues of the knee beyond that associated with normal healing. It can also occur secondarily to prolonged immobility and lack of extension associated with knee surgery, particularly intraarticular ACL reconstruction. IPCS follows a predictable natural history which is divided into three stages. Symptoms, diagnostic findings, and recommended treatment are determined by the stage at presentation. Once beyond its early presentation, IPCS is best treated by an anterior intraarticular and extraarticular capsular debridement and release, followed by extensive rehabilitation. The authors review 28 consecutive cases of IPCS. At followup 3 months to 4 years postoperation, the patients had averaged 2.3 additional surgical procedures following their index procedure or injury. The average increase in extension at followup was 12 degrees with the average increase flexion 35 degrees. Eighty percent of patients demonstrated signs and symptoms consistent with patellofemoral arthrosis; 16% of the patients demonstrated patella infera. The authors conclude that prevention or early detection and aggressive treatment are the only ways of avoiding complication in these problem cases.
For metatarsalgia caused by a dislocated lesser metatarsophalangeal (MTP) joint and isolated over-long lesser metatarsals, surgical treatment options without sacrificing the joint are limited. Recently, the Weil osteotomy has been advocated for the treatment of this deformity. In our experience, preliminary results with this technique have revealed a high rate of dorsiflexion contracture of the MTP joints at follow-up. We performed a cadaver study and a three-dimensional analysis on sawbones to investigate this phenomenon. In the cadaveric portion of this study, the second MTP joints of two fresh-frozen cadavers were dissected; the entire ray, with the metatarsal shaft, MTP joint, toe, and plantar fascia, was removed en bloc. After gross anatomic structures were photographed, a Weil osteotomy was performed at 25 degrees relative to the long axis of the metatarsal shaft. The positions of muscles, ligaments, and tendons were noted and photographed before and after the osteotomy. In the sawbones portion of this study, a Weil osteotomy was performed at four different angles (25 degrees, 30 degrees, 35 degrees, and 40 degrees) relative to the long axis of the metatarsal. To ensure reproducibility, the sawbone models were fixed proximally to a vertical milling machine with the second metatarsals inclined 15 degrees to simulate the anatomic position. After making the cut, the plantar fragment was translated along the dorsal fragment proximally for a distance of 5 mm. Before and after the osteotomy, selected x, y, and z coordinates were obtained using a Microscribe 3D digitizer. Data analysis was performed with Microsoft Excel, and ANOVA was used to determine significant differences (p < 0.05) between the various osteotomies. Analysis of the cadaver dissection revealed that after the Weil osteotomy, the tendons of the interosseous muscles move dorsally with respect to the axis of the MTP joint due to the depression of the plantar fragment of the metatarsal. The loss of their flexion effect on the joint permits the pull of the extensor to dorsiflex the toe. The size of the depression for the various osteotomies averaged: 25 degrees osteotomy, 3.03 mm (range, 1.8 to 3.8 mm); 30 degrees osteotomy, 3.2 mm (range, 1.9 to 4.0 mm); 35 degrees osteotomy, 3.5 mm (range, 1.7 to 5.7 mm); and 40 degrees osteotomy, 4.2 mm (range, 2.8 to 6.4 mm). Amounts of shortening relative to the long axis of the metatarsal for the various osteotomies averaged: 25 degrees osteotomy, 5.03 mm (range, 4.77 to 5.30 mm); 30 degrees osteotomy, 4.59 mm (range, 3.47 to 5.19 mm); 35 degrees osteotomy, 4.27 mm (range, 2.87 to 5.00 mm); and 40 degrees osteotomy, 3.65 mm (range, 3.20 to 4.31 mm). According to our analysis, depression of the plantar fragment always occurs after a Weil osteotomy. This depression changes the center of rotation of the MTP joint, and the interosseous muscles then act more as dorsiflexors than as plantarfexors.
Gastrocnemius contracture may be a significant cause of many foot disorders. Gastrocnemius tension can be estimated clinically by measuring maximum ankle dorsiflexion during full knee extension. Such measurements, when made with currently available goniometric devices, are subject to high levels of intra- and inter-observer variability. We have designed a device to more consistently measure ankle dorsiflexion, using three dimensional tracking sensors on the leg and foot. The applied dorsiflexion torque is kept constant by a computer, and the computer also monitors hindfoot position to maintain a neutrally aligned foot during testing. Repeated measurements on 26 feet were taken to determine the consistency of the device. The correlation coefficient for the measurements was 0.96, indicating very low intra-observer variability. The standard deviation of the repeated measures was 2 degrees. Based on the 95% confidence interval, the device can be considered accurate to within 4 degrees. Given this accuracy, this instrument could be used to assess gastrocnemius tension, its role in foot pathology, and the effectiveness of surgical lengthening. Compared to other currently available measuring devices, this instrument is the most reliable in estimating ankle dorsiflexion, since it is capable of controlling hindfoot position and applied dorsiflexion torque, and it can be easily constructed by other laboratories.
Four different types of post-burn contractures of the foot, mild, moderate, severe, and mutilated, are described. The varying degrees of involvement require different methods of treatment, which are described in detail.
BACKGROUND: Dupuytren's disease is a chronic inflammatory process which causes contractures of the fingers by shortening and thickening the palmar fascia. During the proliferative phase, fibroblasts transform into myofibroblasts apparently under the influence of several different factors. The disease usually develops slowly, but in some patients it tends to develop aggressively. The pathogenesis of Dupuytren's disease remains unsolved. In this study, we analyzed some histological characteristics that seem to predict rapid recurrence. MATERIAL AND METHODS: 21 patients were divided into two groups. In 11 patients the disease was classified as aggressive because it had recurred within two years after an operation. In 10 cases it was non-aggressive, as no recurrence had been seen. Five control samples were taken from healthy palmar aponeurosis. The differences in cellularity, collagen, Ki-67, MSA, alpha-SMA and tenascin between the specimens were analyzed using immunohistochemistry. RESULTS: Alpha-SMA and Ki-67 were present more often in the aggressive specimens. Immunohistochemical stainings for macrophages and lymphocytes were negative. CONCLUSION: There may be differences in the histology and/or immunohistochemical appearance of pathological palmar connective tissue cords in aggressive and normal Dupuytren's disease. Further studies are needed to elucidate the pathogenesis of this disease.