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PubMed2003

[Merosin-positive congenital muscular dystrophy with early orthopaedic problems in relation to Ullrich's disease].

We report three patients with sporadic merosin-positive congenital muscular dystrophy (CMD) with torticollis and/or developmental dislocation of the hip in early childhood. Diagnosis of merosin-positive CMD was based on their clinical and dystrophic muscle biopsy findings. At the age 13 months, patient 1 was found to have developmental dislocation of both hips, which was surgically treated at 5 years. Patient 2 had severe torticollis and contracture of both hip joints which had been present since the neonatal period, and underwent repair of the torticollis at 2 years. Patient 3 was found to have developmental dislocation of the left hip at one month of age. Although she had generalized muscle hypotonia she learned to walk at 23 months. She had no facial muscle involvement nor contracture of joints, but had hyperlaxity of distal joints. Her muscle biopsy showed complete collagen VI deficiency immunohistochemically. In contrast to merosin-deficient CMD, merosin-positive CMD appears to be a group of heterogeneous diseases. Since collagen VI was reported to be defective in Ullrich's disease, patient 3 may be diagnosed as having Ullrich's disease but had no typical clinical characteristics of the disease. Further study is needed to identify the pathogenetic mechanism of congenital muscular dystrophy with early joint abnormalities to determine whether there is a primary abnormality of the connective tissue including collagen VI.

Adolescent↗
PubMed1983

Soft tissue release of the hip in juvenile chronic arthritis.

Adductor and/or subspinal tenotomies were performed on 17 patients (25 hips) with longstanding juvenile chronic arthritis and hip disability. The flexion contracture decreased after surgery from 28 to 18 degrees but had increased to the preoperative level by an average follow-up time of 48 months. The adductor contractures followed the same pattern. All but 3 of the patients were dissatisfied with the relatively small gain and the short-lasting effect of the operation. Knee contractures and insufficient release are probably some of the reasons for the poor results. A more extensive release is recommended and in the case of hip pain combined with synovectomy.

Adolescent↗
PubMedDate not supplied

[Treatment results of modified Glorion-Rideau release in Duchenne muscular dystrophy].

Although the cause of Duchenne muscular dystrophy has been recently found, there is no causal treatment to alter the natural course of this disease. Based on the recommendations by Glorion and Rideau with early treatment of contractures of the hips and the lower limbs we performed a modified release of the spina muscles, resection of tensor fasciae latae and a lengthening of the tendo calcaneus in 32 patients. The mean ae of DMD patients at time of operation was 6.1 yrs. The mean follow-up was 3.4 yrs. All children underwent mobilization the day after surgery. Complete correction of all contractures was immediately achieved after operation and kept in all but two cases up to the follow-up examination. No loss of ambulation was observed. Our results demonstrate that early selective surgery in DMD patients before or just at the onset of contractures without performing an additional aponeurectomy of the iliotibial band and percutaneous tenotomy of the hamstrings according to the original Glorion-Rideau-technique safely prevents severe contractures and should prolong ambulation.

Achilles Tendon↗
PubMed1977

[A case of central core disease. Light microscopic and histochemical studies (author's transl)].

A sporadic case of central core disease in a 5 1/2-year-old girl is reported. Clinically, a retarded motor development existed, furthermore, a muscle weakness and hypotonia of the extremities and trunk, contractures of the hip- and knee-joint,and luxation of both hip-joints. Biopsy specimens are taken from both Mm. gastrocnemii. Muscle fibres show, by morphologic examination, 95 per cent cores, which are characteristic for this myopathy. A further abnormality is seen inthe histochemical preparations for phosphorylase, succinate dehydrogenase, NAD diaphorase tetrazolium reductase, myofibrillar ATPase as well as AS-reaction with and without diastase digestion. With these techniques the muscle fibres show an uniform reaction pattern in which the activities of the oxidative andglycolytic enzymes correspond to the type I fibres of healthy persons. The cores show a lack of a activity of the oxidative and glycolytic enzymes as well as are ATPase- and PAS-negative. By reason of this histochemical behaviour it is suggested that the cores are predominantly unstructured. The cause of this disease might be complex disturbances in the neuro-muscular system manifested in the fetal period.

Child, Preschool↗
PubMed1996

Assessment of femoral neck-shaft and antetorsion angles.

The biplanar (Rippstein/Dunlop) technique is commonly used to radiographically determine the neck-shaft and anteversion angles of the hip. This method is unsuitable for certain groups of patients, such as those with fixed contracture of the hip joint. In these patients we have found the 'sinus wave' method to be preferable. We compared the neck shaft and anteversion angles of 30 hips determined by these two methods. Correlation was good for both the neck shaft (r = 0.972) and anteversion angles (0.69). We also used ultrasound to measure the anteversion but this correlated poorly with the Rippstein/Dunlop technique (r = 0.56). We believe that the sound wave technique is an accurate and practical way to determine the anteversion and neck-shaft angles of the hip.

Adolescent↗
PubMed2001

Bilateral hip surgery in severe cerebral palsy a preliminary review.

When cerebral palsy involves the entire body pelvic asymmetry indicates that both hips are 'at risk'. We carried out a six-year retrospective clinical, radiological and functional study of 30 children (60 hips) with severe cerebral palsy involving the entire body to evaluate whether bilateral simultaneous combined soft-tissue and bony surgery of the hip could affect the range of movement, achieve hip symmetry as judged by the windsweep index, improve the radiological indices of hip containment, relieve pain, and improve handling and function. The early results at a median follow-up of three years showed improvements in abduction and adduction of the hips in flexion, fixed flexion contracture, radiological containment of the hip using both Reimer's migration percentage and the centre-edge angle of Wiberg, and in relief of pain. Ease of patient handling improved and the satisfaction of the carer with the results was high. There was no difference in outcome between the dystonic and hypertonic groups.

Adolescent↗
PubMed1991

Dislocations following arthroplasties of the hip. Incidence, prevention, and treatment.

Three methods of avoiding postoperative prosthetic dislocation following total or bipolar hip arthroplasty are described; each approach is recommended for a specific population. The anterior surgical approach was utilized for bipolar hip endoprosthetic arthroplasty in 62 minimal or bed-to-chair ambulators with established flexion contractures about the hip. Two of these patients subsequently experienced a prosthetic dislocation, one of which was secondary to infection. An additional 98 patients who underwent arthroplasty using the posterior approach wore a knee immobilizer postoperatively, without incidence of prosthetic dislocation. A modification of Wilke boot casting was utilized for four patients following reduction of a dislocated hip prosthesis. The cast consisted of a short cylinder cast on the affected extremity connected by a cross bar to a short leg cast on the contralateral leg. The casts controlled rotation, were well tolerated, and resulted in no redislocations. We therefore recommend the anterior approach in minimal ambulatory patients who are to undergo total bipolar hip arthroplasty. When the posterior approach is used in hip replacement procedures, we have found that postoperative use of a knee immobilizer helps prevent dislocation. Following reduction of a dislocated hip prosthesis, a modification of the Wilke boot cast that does not immobilize the affected ankle can be used.

Aged↗
PubMed1977

The treatment of flexion contracture of the knee in myelomeningocele.

A follow-up study, on average four years after operation, of seventy-six cildren with myelomeningocele who had surgical treatment for flexion contracture of the knee, is reported. After a single operation sixty-eight knees (55 per cent) had a contracture of less than 20 degrees, which was the main criterion of success. About half of the cases of transplantation of the hamstrings to the femur, division or elongation of the hamstrings, or supracondylar osteotomy had successful results. Transfer of the hamstring tendons to the patella was successful in nine of twelve instances, so giving the lowest rate of failure. Forty-five patients were active walkers at follow-up as compared to eighteen before operation. However, only one of the eleven patients over twelve years of age with a motor level above T.12 was an active walker at review. Several conclusions are drawn. A flexion contracture of the hip greater than 30 degress should be corrected before operation of the knee. Supracondylar osteotomy as a primary procedure should only be used to correct flexion contracture of the knee secondary to malunited fractures. Faradic stimulation is useful in the evaluation of muslce function before operation. An intelligence quotient below 65 and weakness of the arms are relative contraindications for correction of the deformity of the knee.

Adolescent↗
PubMed1982

Orthopaedic management of lumbosacral agenesis. Long-term follow-up.

Twenty-two patients with lumbosacral agenesis were treated at the Shriners Hospital for Crippled Children, Chicago Unit, from 1953 to 1979. At the time of this study, ten of the patients were skeletally mature after an average follow-up of 24.1 years. Two patients had died, twelve could be examined, and eight who were unable to return for examination responded to a questionnaire. Eleven of the patients had diabetic mothers. Of the orthopaedic problems in these patients, knee-flexion contractures with popliteal webbing were the most difficult to correct. These deformities varied in severity with the level of the agenesis and the resulting loss of motor power. Other problems were dislocations and flexions contractures of the hips, scoliosis, equinovarus deformities of the foot, and instability at the spinal-pelvic junction. When there was inadequate quadriceps function it was difficult to correct knee-flexion contractures and to prevent them from recurring. For severe knee deformity, knee disarticulation and prosthetic fitting were the most effective treatment. Spinal-pelvic instability was not a problem in eighteen of the twenty surviving patients. Unreduced dislocated hips also did not cause any problems.

Abnormalities, Multiple↗
PubMedDate not supplied

Surgical management of the lower extremity in ambulatory children with cerebral palsy.

Despite the increasing popularity of nonorthopaedic treatment alternatives for children with cerebral palsy, bony and soft-tissue surgery remains a common component in the management of ambulatory patients. Multisite simultaneous tendon surgery provides improvement in gait by addressing hip, knee, and ankle contractures together. Careful preoperative physical examination is required; computerized gait analysis can be useful in confirming a plan for multiple tendon surgeries. Rotational osteotomies can improve transverse-plane malalignment. Shorter periods of immobilization and aggressive postoperative gait training and strengthening may optimize improvements in gait.

Cerebral Palsy↗
PubMedDate not supplied

Hip instability in spinal cord injury patients.

Seventeen children with spinal cord injuries that occurred before the age of 9 years were followed at the Alfred I. duPont Institute for a mean of 13.2 years (range 3-32 years). Fourteen of these patients (82%) developed subluxation or dislocation in one or both hips. Patients with spastic spinal cord injury (SCI) developed hip flexion and adduction contractures and had symptoms that tended to mimic those of cerebral palsy. Patients with flaccid SCI mirrored the "flail" hips of myelomeningocele. Pelvic obliquity occurred in spastic and flaccid children. Only one patient developed pain, and three had deformities suggesting avascular necrosis of the femoral head. At final follow-up, no patient had physical problems relating to the hip dysplasia.

Child↗
PubMed1999

Orthopaedic management in four cases of mucolipidosis type III.

Four patients with mucolipidosis type III, three of them brothers, were seen initially in the first two decades of life. Their main symptoms were carpal tunnel syndrome, trigger fingers and generalized joint stiffness. Radiographs showed spinal deformities and hip dysplasia, but these were not causing pain. Carpal tunnel syndrome was treated surgically but joint stiffness and hip and knee contractures were managed by physiotherapy. Up to the age of 24 none of these patients has had pelvic osteotomy for hip dysplasia; this operation, not yet reported in mucolipidosis type III, may eventually be necessary.

Adult↗
PubMed1992

[Congenital asymmetrical pelvis. Clinical, radiological study and outcome].

In congenital pelvic obliquity, there is a restricted abduction in one hip and an abduction contracture in the other. This association has been considered as a cause of acetabular dysplasia with progressive subluxation of the hip opposite to the abduction contracture. The clinical and radiological study of 120 children with an average follow-up of 3 years and 3 months permitted to demonstrate that two different types exist: the simple types (93 cases) without dysplasia, which never developed progressive subluxation and must not be treated, and the pelvic obliquities with dysplasia-subluxation-dislocation (27 cases) which have to be treated if the decentration of the hip opposite to the abduction contracture is marked. Distinguishing between these two types may be difficult because the X-ray is nearly never strictly correct because of the pelvic obliquity. This work leads to a better comprehension of the acetabular dysplasias who are subdivided into pseudodysplasias, secondary dysplasias and primary dysplasias. In the screening for the detection of congenital dislocation of the hip, it is essential that a pelvic obliquity be recognised because it constitutes a sign of hip at risk. Then, the clinical research of instability could be completed by echographic study in the two or three months or by radiographic study after 3 months in order to have a very precise diagnosis and apply the best treatment.

Acetabulum↗
PubMed1991

Neurophysiology of lower-limb function in hemiplegic children.

Equinus in hemiplegic children is multifactorial. In some cases it is due to a short muscle, in others to simple foot-drop, tonic spasticity, rigidity, compensation for a short limb, fixed flexion contracture at the hip, dominantly inherited forefoot deformity, forefoot equinus secondary to chronic toe-walking, or abnormalities of the visco-elastic properties of the muscle, with true intramuscular contracture. This neurophysiological study confirms that hemiplegia in children is not a homogeneous condition. Some have tonic spasticity; some, although stiff, show electrical silence on stretching; some appear to have a short muscle, with no hypertonicity; and others have hypertonicity in relation to position (i.e. rigidity). A short muscle is not always associated with tonic spasticity with reciprocal inhibition. Weakness can occur without spasticity. Speed of movement of toes, ankle and hip is also significantly reduced.

Adolescent↗
PubMed2007

Radiographic hip disorders and associated complications in severe cerebral palsy.

We performed a cross-sectional study of 160 adult patients with severe cerebral palsy to study the relationship between radiographic hip disorders (migration and deformity of the femoral head), on the one hand, and complications such as handling problems, seating problems, decubitus ulcers, fractures and contractures, on the other hand. Both migration and deformity were positively related to the need for a special seat in the wheelchair and adduction contractures of the hip. We conclude that migration and deformity of the femoral head, if possible, should be prevented in patients with severe cerebral palsy.

Adult↗
PubMedDate not supplied

Prolongation of ambulation in children with Duchenne muscular dystrophy by subcutaneous lower limb tenotomy.

To assess the effect of subcutaneous (s.c.) lower limb tenotomies on the ambulatory ability of patients with Duchenne muscular dystrophy (DMD), 54 patients were followed. Twenty-nine patients underwent hip, knee, and ankle tenotomies at a mean age of 10 2/12 years and were followed postoperatively for an average of 3 9/12 years. These children continued ambulation in long-leg braces to a mean age of 12 8/12 years and stood to an average of 13 5/12 years. Contracture correction was 49% at the hip, 58% at the knee, and 100% at the ankle. A separate group of 25 children to whom operation was offered but declined, was followed: these children ceased ambulating at a mean age of 10 years and ceased standing at a mean age of 10 2/12 years. Thus, we propose that s.c. tenotomy is effective in allowing braced ambulation well beyond what the natural history would allow.

Achilles Tendon↗
PubMed2000

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

The nemaline myopathies are characterized by weakness and eosinophilic, rodlike (nemaline) inclusions in muscle fibers. Amish nemaline myopathy is a form of nemaline myopathy common among the Old Order Amish. In the first months of life, affected infants have tremors with hypotonia and mild contractures of the shoulders and hips. Progressive worsening of the proximal contractures, weakness, and a pectus carinatum deformity develop before the children die of respiratory insufficiency, usually in the second year. The disorder has an incidence of approximately 1 in 500 among the Amish, and it is inherited in an autosomal recessive pattern. Using a genealogy database, automated pedigree software, and linkage analysis of DNA samples from four sibships, we identified an approximately 2-cM interval on chromosome 19q13.4 that was homozygous in all affected individuals. The gene for the sarcomeric thin-filament protein, slow skeletal muscle troponin T (TNNT1), maps to this interval and was sequenced. We identified a stop codon in exon 11, predicted to truncate the protein at amino acid 179, which segregates with the disease. We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1.

Amino Acid Sequence↗