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At least 127 records · Page 7Linked to original sources
PubMed2006

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.

OBJECTIVE: To describe a three-generation family with distal arthrogryposis associated with myopathy and caused by a mutation in the gene encoding for sarcomeric thin filament protein troponin I, TNNI2. METHODS: The authors performed clinical investigations and reviewed medical records. Muscle biopsy specimens were obtained for morphologic analysis. Genomic DNA was extracted from blood and analyzed for mutations in TNNI2. RESULTS: The five affected individuals had predominantly distal congenital joint contractures, mild facial involvement (mild micrognathia, narrow palpebral fissures), and no detectable muscle weakness. The four affected adults had slightly increased levels of creatine kinase in blood, and muscle biopsy specimens showed findings of myopathy with changes restricted to type 2 fibers. These included variability of muscle fiber size, internalized nuclei, and increased interstitial connective tissue. Analysis of TNNI2 encoding the troponin I isoform expressed in type 2 muscle fibers disclosed a heterozygous three-base in-frame deletion, 2,918-2,920del, skipping the highly conserved lysine at position 176. The mutation was present in all 5 affected individuals but was not identified in any of the 11 unaffected family members. CONCLUSION: Distal arthrogryposis type 1 is genetically heterogeneous, and myopathy due to sarcomeric protein dysfunction may be one underlying cause of the disease.

Adult↗
PubMed1998

Surgical management of hip dislocation in children with arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita (AMC) is a rare disease with multiple joint contractures. It is widely believed that bilaterally dislocated hips should not be reduced since movement is satisfactory and open reduction has had poor results. Since 1977 we have performed a new method of open reduction using an extensive anterolateral approach on ten hips in five children with AMC. The mean age at surgery was 31.5 months (17 to 64) and the mean follow-up was 11.8 years (3.8 to 19.5). At the final follow-up all children walked without crutches or canes. Two managed independently, one required a long leg brace and two had short leg braces because of knee and/or foot problems. The clinical results were good in eight hips and fair in two and on the Severin classification seven hips were rated as good (group I or group II). We recommend the extensive anterolateral approach for unilateral or bilateral dislocation of the hip in children with arthrogryposis or developmental dislocation of the hip.

Acetabulum↗
PubMed2001

Arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita (AMC) is a term that is used to describe the presence of multiple joint contractures at birth. AMC can be seen singularly or in conjunction with other abnormalities. Historically, the term arthrogryposis was used as a disease diagnosis, but it is now clear that AMC is not a disease entity but a syndrome, involving a manifestation of many fetal and neonatal disorders of the neuromuscular system. Its etiology is multifocal, and there is a wide variation in the degree to which muscles and joints are affected. Early identification and implementation of a plan of therapy are essential. The purpose of this article is to provide an overview of the AMC 'syndrome, specifically, clinical features, etiology, diagnosis, therapeutic interventions, family support, and outcomes.

Adaptation, Psychological↗
PubMed1985

Management of arthrogryposis multiplex congenita. A case report.

Arthrogryposis multiplex congenita is a rare disorder of skeletal muscle development which is characterized by deforming contractures of the joints, but seldom affects the temporomandibular joint. This report reviews the condition and reports the findings and periodontal management of a patient referred with arthrogryposis multiplex congenita which required treatment for severe dilantin gingival hyperplasia.

Adult↗
PubMed1991

Talectomy for equinovarus deformity in arthrogryposis. A 13 (2-20) year review of 17 feet.

Ten children (17 feet) with arthrogryposis multiplex congenita and severe, rigid equinovarus deformity underwent talectomy to bring the foot plantigrade. One child had a bilateral talectomy after only one manipulation, whereas the others were operated on an average of three times before talectomy. After a mean follow-up of 13 years, 14 out of 17 feet were satisfactory. We recommend that children with arthrogryposis and severe rigid equinovarus deformity be treated with talectomy before the expected age of walking.

Adolescent↗
PubMedDate not supplied

Ophthalmologic findings associated with arthrogryposis multiplex congenita: case report and review of the literature.

Arthrogryposis multiplex congenita is a birth defect characterized by multiple joint deformities and sometimes associated with various other congenital anomalies. There have been several reported cases of miscellaneous ocular abnormalities in conjunction with this syndrome. We report the first case of congenital ophthalmoplegia as well as juvenile onset glaucoma associated with arthrogryposis multiplex congenita. This case represented a unique therapeutic dilemma in that it was extremely difficult to surgically treat the patient's glaucoma because of her severe restrictions of ocular motility.

Adult↗
PubMedDate not supplied

Arthrogryposis and amyoplasia.

Arthrogryposis (multiple congenital joint contractures) is an uncommon problem. Because there are many causes, correct diagnosis is important to predict the natural history and determine appropriate treatment. Inconsistent terminology has caused confusion about both diagnosis and treatment. Amyoplasia, the most common type of arthrogryposis, is characterized by quadrimelic involvement and replacement of skeletal muscle by dense fibrous tissue and fat. Early physical therapy and splinting may improve contractures, but surgical intervention is often necessary. Aggressive soft-tissue releases in addition to casting may improve joint position. In more severe contractures, osseous surgery also may be needed. Deformity recurrence is common, particularly in skeletally immature patients.

Arthrogryposis↗
PubMed2000

Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.

Severe infantile Gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II Gaucher disease. This group of infants has little, if any, detectable beta-glucocerebrosidase activity, and prior genetic analyses have been limited in detecting the mutations responsible for this phenotype. We document an Hispanic infant succumbing with arthrogryposis and collodion membrane covering the skin who had no detectable beta-glucocerebrosidase activity in tissue samples and who was homozygous for a rare recombinant allele, RecNciI. Microscopic evaluation demonstrated accumulation of Gaucher cells in visceral organs and extensive loss of neurons in the anterior horns, brainstem, and cortex of the nervous system. The apoptosis of neuronal cells from the anterior horns and brainstem are a reasonable explanation for the arthrogryposis and neonatal death, respectively.

Apoptosis↗
PubMedDate not supplied

Twenty-year follow-up of hip problems in arthrogryposis multiplex congenita.

Nineteen patients with arthrogryposis (38 hips) with significant hip problems were reviewed (13 dislocations, 9 subluxations, 16 contractures). The average follow-up was 20 years, with 15 patients reaching skeletal maturity. All patients had minimal or no pain. Thirteen of the 19 patients were community walkers. The dislocation group in general had more stiffness of the hip joint than the subluxation and the contracture groups. However, the long-term functional results were comparable among these three groups. Closed treatment always failed in treating dislocation of hips in arthrogryposis. Open reduction was successful in stabilizing the hip, but the hips were usually stiffer. However, after 20 years of follow-up, the function of the openly reduced hips was comparable with others.

Arthrogryposis↗
PubMedDate not supplied

[Multiple congenital arthrogryposis as a cause of learning and communicating problems].

Since 1963, the authors have studied 83 cases of multiple arthrogryposis. Incidence at Hospital de Pediatria was 0.006%. It was shown that clinicians usually pay attention only to osteoarticular problems and very little attention to neurological problems. A new classification of arthrogryposis is proposed, including learning and communication problems with the aim of providing means for the study of the disease under a multidisciplinary approach.

Arthrogryposis↗
PubMed2002

[Restoration of elbow joint flexion using pectoral muscle transfer in patients with arthrogryposis multiplex congenita. Part I: surgical method, rehabilitation and clinical results].

PURPOSE OF THE STUDY: In patients with type I arthrogryposis multiplex congenita, elbows are fixed in extension. The m. biceps brachii and m. brachialis are usually atrophic. The main objective of arm treatment is to restore flexion in the elbow that would enable the patient to reach the mouth with the hand as well as maintain active extension of the arm for hygienic purposes. This can be achieved by several techniques of muscle transfer. Of these, we selected and modified the method of Clark based on transfer of distal parts of the greater pectoral muscle. The aim of this study was to develop the surgical procedure in detail, to design the course of rehabilitation and to evaluate the outcomes of treatment. MATERIAL AND METHODS: The procedure for optimal transfer of three fifths of the m. pectoralis major was based on an anatomical study. In addition, a unified course of rehabilitation was developed. Between 1996 and 1999, this approach was applied to nine upper limbs in five patients (age range, 4.3 to 9 years). All the patients were evaluated in terms of their clinical state according to selected subjective and objective criteria. RESULTS: The outcomes of transfer of the m. pectoralis major were evaluated as very good and good in six cases. Active movement of the elbow was in the range of 15 degrees to 95 degrees; useful movement ranged from 40 degrees to 70 degrees. The strength of elbow flexion rated 4 or 4+. In three cases, although muscle transfer restricted active elbow extension it did not prevent the upper limb from being used for hygienic purposes. In the remaining three cases, the method failed to restore the patient's ability of reaching the mouth. The analysis of unsuccessful results showed that these were always related to a very limited pre-operative passive flexion of the elbow, restricted movement of the shoulder joint and a failure in distal fixation of the muscle transposed. DISCUSSION: Our results show that transfer of the distal three fifths of the m. pectoralis major, performed by a modified method of Clark, was an effective approach because the working capacity of this muscle was comparable with those of the m. biceps brachii and m. brachialis. Bilateral transfer enabled the patients to reach the mouth with both hands and to use the remaining elbow extension for hygienic purposes. The best function was achieved when active movement of the shoulder had permitted raising the arm above the horizontal and passive elbow flexion had been 90 degrees. Our results are comparable with those reported in the literature. The critical phase of this transfer involved fixation of the m. pectoralis major to the forearm. CONCLUSIONS: The surgical procedure for transfer of the m. pectoralis major and subsequent rehabilitation in patients with type I arthrogryposis are described in detail. Good results are achieved in patients who, pre-operatively, had passive movement of the elbow joint and active movement of the shoulder joint. The method is not suitable for patients with a markedly limited pre-operative movement of both the elbow and the shoulder in whom an alternative surgical treatment should be used.

Arthrogryposis↗
PubMed2003

[Restoration of elbow joint flexion by transfer of the pectoralis major muscle in patients with arthrogryposis multiplex congenita. Part II. Results of electromyographic and histologic examinations].

PURPOSE OF THE STUDY: In the framework of a prospective study on transposition of the m. pectoralis major according to Clark in patients with type I arthrogryposis multiplex congenita, electromyography was carried out in order to determine pre-operative states of the elbow joint flexors and m. pectoralis major and then the post-operative electric activity of a transposed muscle and to correlate changes with clinical findings. Histological examination was performed to reveal changes in muscle morphology and to complete a comprehensive assessment of muscle transposition. MATERIAL AND METHODS: Electromyography was carried out on nine upper limbs of five pediatric patients aged 4.3 to 8.9 years. Using a needle electrode, activities of the elbow flexors (m. biceps and m. brachialis), m. pectoralis major, m. triceps brachii and m. deltoideus were examined. In the post-operative period, activity was repeatedly measured in both the transposed and non-transposed parts of the m. pectoralis major. In one patient, histological examination of muscle tissue was performed at 26 months after transposition; light microscopy of paraffin-mounted sections stained with hematoxylin-eosin was used. RESULTS: Out of seven arms examined by electromyography before muscle transfer, six showed complete and one incomplete atrophy of the m. biceps brachii and m. brachialis. The m. pectoralis major had a five- to four-degree electric activity, which provided enough strength for transposition. Post-operative examination revealed changes leading to re-innervation of the transposed muscle, which corresponded to a partial denervation of the muscle followed by repair of innervation. None of the muscles was markedly atrophic due to denervation. In muscles with a higher electric activity, clinical outcomes were better, although electric activity always slightly exceeded clinical activity. In terms of electric activity, the transposed muscle was stabilized a year after surgery. Non-transposed parts of the muscle were not damaged by the surgical procedure, as shown by electromyography. Histological examination showed the muscle at a state of partial atrophy but with signs of ongoing regeneration of muscle fibers. DISCUSSION: No data on examination of the electric activity of the m. pectoralis major following its transposition in patients with arthrogryposis multiplex congenita have been reported in the literature. Electromyography in this study proved useful for providing information on the electric activity of a muscle before transposition and on contractility of the muscle after surgery; it also allowed us to distinguish between a mechanical failure of transfer and muscle atrophy due to neurogenic or vascular causes. All transposed muscles that were examined revealed changes indicating a minimum denervation followed by re-innervation. This finding was confirmed by the results of histological examination. CONCLUSIONS: Electromyography showed that the electric activity of a transposed muscle corresponded to the clinical presentation of this muscle and thus became an indispensable part of both pre- and post-operative examination. Both electromyographic and histological examination confirmed the applicability of the treatment described here.

Arthrogryposis↗
PubMed2003

[Severe neonatal myasthenia with arthrogryposis].

Maternal myasthenia gravis has been associated with the presence of neonatal myasthania and sometimes fetal congenital anomalies. The purpose of this paper is to present an infant with multiple deformations born to a mother with myasthenia gravis. The infant presented with arthrogryposis multiplex and pulmonary hypoplasia. The new born died within the first day of life. Twenty-seven other cases of neonatal myasthenia with arthrogryposis have been reported. Twenty-two of them were stillborn or died. The surviving children needed ventilatory assistance for a long period.

Adult↗
PubMedDate not supplied

Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings.

We describe the first family report of ARC syndrome (arthrogryposis multiplex congenita, renal dysfunction, and cholestasis) diagnosed in Turkey. ARC syndrome is a rare cause of cholestatic jaundice and skeletal abnormalities in the neonatal period. Fanconi-like renal tubular dysfunction completed the clinical picture. Consanguinity and affected membership are the other typical components of this rare disorder, and possibility of autosomal recessive transmission was considered. A broad spectrum of histopathological abnormalities have been described in the liver and kidney. In this report, we describe two male siblings with ARC syndrome who had cholestatic jaundice, arthrogryposis multiplex congenital-like joint contractures and renal involvement with additional clinical features. Clinical and pathological aspects of the syndrome are discussed and compared with the other cases in the literature.

Arthrogryposis↗
PubMed1991

[Arthrogryposis and maternal myasthenia gravis. Risk of recurrence].

A 26-year old myasthenic woman whose disease had been in remission for more than 4 years gave birth, at the end of 2 induced pregnancies, to 2 stillborn infants with arthrogryposis. The presence of inherited antibodies directed against acetylcholine receptors most probably does not explain the diffuse retractions. This case illustrates the risk of recurrent foetal arthrogryposis after a first abnormal pregnancy in women with myasthenia gravis.

Adult↗
PubMed1990

[Sevoflurane anesthesia for a patient with arthrogryposis multiplex congenita].

We reported an anesthetic experience of a 6-year-old male patient with arthrogryposis multiplex congenita who underwent tonsillectomy and adenoidectomy. The induction and maintenance of anesthesia were smoothly performed with inhalation of 1-5% sevoflurane in nitrous oxide and oxygen. Emergence from anesthesia was also smooth. Halothane and succinylcholine chloride were not used to avoid possible hyperthermia. Anesthetic management of patients with arthrogryposis multiplex congenita was discussed citing literature references.

Adenoidectomy↗
PubMed1989

[Our experience in the treatment of deformations of the knee joint in arthrogryposis].

During the past 12 years the authors have observed 96 children with deformations of the knee joints associated with arthrogryposis. 54 children were given surgical treatment. The deformations of the knee joints were eliminated differently with regard to the severity of the deformations. In 27 children with correct correlations between the femur and the tibia the deformations of the knee joints (39) were corrected by the method of compression and distraction. In severe cases the contractures of the knee joints (30) with impaired correlations of the bones in the children over 5-6 years of age the compression and distraction method was combined with the open reduction of the dislocation of the bones of the crus and lavsan plasty of the retracted musculus rectus femori and the ligaments of the articulation. The long-term results of the surgical treatment of arthrogryposis deformations of the knee joints (1 to 12 years) were studied in 48 children. As the result of these surgical interventions 45 children began to move on their own.

Adolescent↗