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Contractures
Kinds of Contractures Selected AbstractsMyotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequenceDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 7 2005Anna-Karin Kroksmark PT Msc This study aimed to: classify a cohort of children and adolescents with myotonic dystrophy (dystrophia myotonica: DM) into congenital and childhood onset forms; estimate CTG expansion size; and quantify muscle strength, contractures, and motor function in children with DM and compare results with those of controls. Participants were clinically examined, medical records were reviewed, and isometric muscle strength, contractures, and motor function were measured. Participants were: 42 children with DM (18 females, 24 males; mean age 8y 9mo [SD 4y 7mo], range 10mo to 17y) and 42 age- and sex-matched, healthy controls. Children with DM were divided into three groups: severe congenital (n=13), mild congenital (n=15), and childhood (n=14). Children with childhood DM were significantly weaker than controls (wrist and ankle dorsiflexors [p=0.0044, p=0.0044 respectively]; hip abductors and flexors [p=0.0464, p=0.0217]; and knee flexors and extensors: [p=0.0382, p=0.0033]). Children with mild congenital DM were significantly weaker than controls in all assessed muscle groups Contractures and skeletal deformities were more frequent at time of investigation than at birth, suggesting that foot and spine deformities in particular increase over time. Motor function score was significantly lower for children with DM than for controls. Children with severe congenital DM had the lowest motor function, with correlation between motor function and size of CTG repeat (p=-0.743). Children found jumping, heel standing, and head lifting the most difficult items to perform but few had difficulty walking, running, or stair climbing. DM in children is a heterogeneous disorder with a wide spectrum of muscle involvement, and owing to increased risk of contractures and skeletal deformities, regular follow-ups are recommended. [source] Hereditary palmoplantar keratoderma (four cases in three generations)INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 2 2001Virendra N. Sehgal MD A 39-year-old man reported with progressive thickening of the skin of the hands and feet and an inability to flex his hand. It was largely asymptomatic; however, brisk walking caused excessive sweating, pain, and widening of the fissures on the soles of the feet. He was unable to walk barefooted. According to his mother, the first episode presented with blistering at 7 days of age. Ever since, the condition has steadily worsened to acquire the current status. He was married at the age of 18 years, and had a stillborn child 18 months afterwards. Presently, he has three children, two girls aged 14 and 12 years and a son aged 10 years. Both the daughters are similarly affected. While cataloguing the details of the pattern of inheritance, the mother of the index case was also found to be affected (Fig. 1). The natural history of the disease was identical. Figure 1. Palmoplantar keratoderma: pattern of inheritance; black indicates affected individuals Examination of the palms was marked by pronounced thickening of the skin resulting in the masking of palmar creases. The thickening was well demarcated and its margins were prominent and surrounded by an erythematous halo. The color of the skin was yellow and waxy (Fig. 2a). Contractures were present on all the fingers; nevertheless, the deformity of the middle and distal interphalangeal joints of the little finger was prominent. The soles of the feet had a similar morphology. In addition, marked fissuring was obvious (Fig. 2b). His daughters had an identical affliction of the palms and soles. The texture and morphology of the nails were normal. Light microscopy performed on scrapings from the fissures, mounted on 10% potassium hydroxide, revealed mycelia (hyphae) and spores. Figure 2. Well-demarcated hyperkeratosis depicting the yellow, waxy color of the palms, with masking of creases (a). Marked fissuring on the soles was prominent (b) Hematoxylin and eosin-stained microsections from the palms and soles showed exquisite changes in the epidermis characterized by considerable uniform orthohyperkeratosis. Hypergranulosis and acanthosis were other associated changes. In addition, perinuclear vacuolization and keratohyalin granules of varying sizes and shapes were located at the periphery of the cells. A sparse mononuclear infiltrate was located at the dermo-epidermal junction. Hyphae and spores of fungi were also identified in the stratum corneum (Fig. 3). Figure 3. Orthohyperkeratosis, hypergranulosis, and acanthosis. Perinuclear vacuolization and keratohyalin granules at the periphery of the cells; a sparse mononuclear infiltrate was also present (hematoxylin and eosin, ×,40 (a), ×,400 (b)) Itraconazole, 400 mg/day in two equally divided doses, was administered with major meals for 7 days. In addition, high doses of vitamin A (100,000 IU) were given daily for 2 weeks, supplemented by 12% salicylic acid (Salicylix SF12) ointment for daytime application and an ointment containing 6% coal tar and 3% salicylic acid (Salytar) for night-time application. This treatment is useful in recalcitrant cases. [source] Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutationANNALS OF NEUROLOGY, Issue 1 2010Hans Knoblauch MD We investigated a large German family (n = 37) with male members who had contractures, rigid spine syndrome, and hypertrophic cardiomyopathy. Muscle weakness or atrophy was not prominent in affected individuals. Muscle biopsy disclosed a myopathic pattern with cytoplasmic bodies. We used microsatellite markers and found linkage to a locus at Xq26-28, a region harboring the FHL1 gene. We sequenced FHL1 and identified a new missense mutation within the third LIM domain that replaces a highly conserved cysteine by an arginine (c.625T>C; p.C209R). Our finding expands the phenotypic spectrum of the recently identified FHL1-associated myopathies and widens the differential diagnosis of Emery,Dreifuss,like syndromes. ANN NEUROL 2010;67:136,140 [source] Contractility of single human dermal myofibroblasts and fibroblastsCYTOSKELETON, Issue 2 2002Louise K. Wrobel Abstract Human dermal myofibroblasts, characterised by the expression of ,-smooth muscle actin, are part of the granulation tissue and implicated in the generation of contractile forces during normal wound healing and pathological contractures. We have compared the contractile properties of single human dermal fibroblasts and human dermal myofibroblasts by culturing them on flexible silicone elastomers. The flexibility of the silicone substratum permits the contractile forces exerted by the cells to be measured [Fray et al., 1998: Tissue Eng. 4:273,283], without changing their expression of ,-smooth muscle actin. The mean contractile force produced by myofibroblasts (2.2 ,N per cell) was not significantly different from that generated by fibroblasts (2.0 ,N per cell) when cultured on a substrata with a low elastomer stiffness. Forces produced by fibroblasts were unaffected by increases in elastomer stiffness, but forces measured for myofibroblasts increased to a mean value of 4.1 ,N/cell. This was associated with a higher proportion of myofibroblasts being able to produce wrinkles on elastomers of high stiffness compared to fibroblasts. We discuss the force measurements at the single cell level, for both fibroblast and myofibroblasts, in relation to the proposed role of myofibroblasts in wound healing and pathological contractures. Cell Motil. Cytoskeleton 52:82,90, 2002. © 2002 Wiley-Liss, Inc. [source] Orthopaedic issues in the musculoskeletal care of adults with cerebral palsyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2009HELEN M HORSTMANN MD Aims, Orthopaedic care of adults with cerebral palsy (CP) has not been well documented in orthopaedic literature. This paper focuses on some of the common problems which present themselves when adults with CP seek orthopaedic intervention. In particular, we review the most common orthopaedic issues which present to the Penn Neuro-Orthopaedics Program. Method, A formal review of consecutive surgeries performed by the senior author on adults with CP was previously conducted. This paper focuses on the health delivery care for the adult with orthopaedic problems related to cerebral palsy. Ninety-two percent of these patients required lower extremity surgery. Forty percent had procedures performed on the upper extremities. Results, The majority of problems seen in the Penn Neuro-Orthopaedics Program are associated with the residuals of childhood issues, particularly deformities associated with contractures. Patients are also referred for treatment of acquired musculoskeletal problems such as degenerative arthritis of the hip or knee. A combination of problems contribute most frequently to foot deformities and pain with weight-bearing, shoewear or both, most often due to equinovarus. The surgical correction of this is most often facilitated through a split anterior tibial tendon transfer. Posterior tibial transfers are rarely indicated. Residual equinus deformities contribute to a pes planus deformity. The split anterior tibial tendon transfer is usually combined with gastrocnemius-soleus recession and plantar release. Transfer of the flexor digitorum longus to the os calcis is done to augment the plantar flexor power. Rigid pes planus deformity is treated with a triple arthrodesis. Resolution of deformity allows for a good base for standing, improved ability to tolerate shoewear, and/or braces. Other recurrent or unresolved issues involve hip and knee contractures. Issues of lever arm dysfunction create problems with mechanical inefficiency. Upper extremity intervention is principally to correct contractures. Internal rotation and adductor tightness at the shoulder makes for difficult underarm hygiene and predispose a patient to a spiral fracture of the humerus. A tight flexor, pronation pattern is frequently noted through the elbow and forearm with further flexion contractures through the wrist and fingers. Lengthenings are more frequently performed than tendon transfers in the upper extremity. Arthrodesis of the wrist or on rare occasions of the metacarpal-phalangeal joints supplement the lengthenings when needed. Conclusions, The Penn Neuro-Orthopaedics Program has successfully treated adults with both residual and acquired musculoskeletal deformities. These deformities become more critical when combined with degenerative changes, a relative increase in body mass, fatigue, and weakness associated with the aging process. [source] Long-term effects of botulinum toxin A in children with cerebral palsyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2 2009KRISTINA TEDROFF MD The long-term effects of botulinum toxin A (BoNT-A) treatment in children with cerebral palsy (CP) are still elusive. We studied a prospective clinical cohort of 94 children with different subtypes (50% spastic diplegic CP, 22% hemiplegic CP, 25% tetraplegic CP, 3% dyskinetic CP), sex (55% male, 45% female), severity according to Gross Motor Function Classification System (29% Level I, 15% Level II, 16% Level III, 17% Level IV, 23% Level V), and age (median 5y 4mo, range 11mo,17y 8mo). The longest follow-up time was 3 years 7 months (median 1y 6mo) and included a maximum of eight injections per muscle (median two injections to a specific muscle). Outcome measurements were muscle tone (Modified Ashworth Scale) and joint range of motion (ROM). Assessments were made at a minimum before and 3 months after each injection. Ninety-five per cent confidence intervals for differences from baseline were used to identify significant changes. BoNT-A injections induced reduction of long-term spasticity in all muscle-groups examined: the gastrocnemius, hamstring, and adductor muscles. The reduction in tone was most distinct in the gastrocnemius muscle, and each repeated injection produced an immediate reduction in muscle tone. However, improvement in ROM was brief and measured only after the first injections, whereupon the ROM declined. Thus, the results suggest that BoNT-A can be effective in reducing muscle tone over a longer period, but not in preventing development of contractures in spastic muscles. The dissociation between the effects on muscle tone and ROM indicates that development of contractures is not coupled to increased muscle tone only, but might be caused by other mechanisms. [source] Lower motor neuron involvement in perisylvian polymicrogyriaDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 10 2006Maria Clark MB BChir MRCP Congenital bilateral perisylvian polymicrogyria syndrome (CBPS) has a cerebral cortical localization and its phenotype was thought to be purely central. This study of seven children with CBPS (five males, two females; mean age 5y [SD 3y 6mo]; range 1mo-11y 10mo) documents electrophysiological evidence of lower motor neuron involvement in association with congenital contractures (limb or jaw) in six of the seven children studied. This is not an expected association and does not conform to the traditional lesional classification system of the cerebral palsies. Possible pathogenic mechanisms are discussed but this association of upper and lower motor neuron involvement is likely to be a previously unsuspected part of a genetic or other pathogenic sequence. [source] Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequenceDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 7 2005Anna-Karin Kroksmark PT Msc This study aimed to: classify a cohort of children and adolescents with myotonic dystrophy (dystrophia myotonica: DM) into congenital and childhood onset forms; estimate CTG expansion size; and quantify muscle strength, contractures, and motor function in children with DM and compare results with those of controls. Participants were clinically examined, medical records were reviewed, and isometric muscle strength, contractures, and motor function were measured. Participants were: 42 children with DM (18 females, 24 males; mean age 8y 9mo [SD 4y 7mo], range 10mo to 17y) and 42 age- and sex-matched, healthy controls. Children with DM were divided into three groups: severe congenital (n=13), mild congenital (n=15), and childhood (n=14). Children with childhood DM were significantly weaker than controls (wrist and ankle dorsiflexors [p=0.0044, p=0.0044 respectively]; hip abductors and flexors [p=0.0464, p=0.0217]; and knee flexors and extensors: [p=0.0382, p=0.0033]). Children with mild congenital DM were significantly weaker than controls in all assessed muscle groups Contractures and skeletal deformities were more frequent at time of investigation than at birth, suggesting that foot and spine deformities in particular increase over time. Motor function score was significantly lower for children with DM than for controls. Children with severe congenital DM had the lowest motor function, with correlation between motor function and size of CTG repeat (p=-0.743). Children found jumping, heel standing, and head lifting the most difficult items to perform but few had difficulty walking, running, or stair climbing. DM in children is a heterogeneous disorder with a wide spectrum of muscle involvement, and owing to increased risk of contractures and skeletal deformities, regular follow-ups are recommended. [source] Adults with cerebral palsy: a survey describing problems, needs, and resources, with special emphasis on locomotionDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2 2001Christina Andersson MSc PT The purpose of this study was to describe problems and resources of adults with cerebral palsy (CP) with special emphasis on locomotion. A questionnaire concerning demographic facts, locomotion, musculoskeletal problems, and present physical activity was mailed to 363 adults with CP. Two hundred and twenty-one adults, (125 male and 96 female; mean age 36 years, range 20 to 58 years) answered the questionnaire. Seventy-seven per cent reported problems with spasticity. Eighty-four per cent lived in their own apartments, with or without home services. Twenty-four per cent worked full-time and 18% had full disability pension. Twenty-seven per cent had never been able to walk, 64% could walk with or without walking aids, 35% reported decreased walking ability, and 9% had stopped walking. Eighty per cent reported contractures and 18% had pain every day. Approximately 60% were regularly physically active, and despite their disability, 54% considered that they were not limited in their ability to move about in the community. [source] Co-morbidity of Emery,Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindredEUROPEAN JOURNAL OF NEUROLOGY, Issue 3 2007G. Ifergane Emery,Dreifuss muscular dystrophy (EDMD) is an X-linked humero-peroneal muscular dystrophy associated with contractures and cardiomyopathy. In a 90 member family, we found 11 affected male individuals, three of whom displayed areflexia and neurogenic electromyographic changes. Muscle biopsy performed in one case demonstrated type grouping suggestive of a neurogenic disorder. These three individuals and another family member, who suffers from mild, static limb weakness but is clinically and genetically unaffected by EDMD showed an abnormal incremental response of over 100% to tetanic stimulation. In contrast, one affected family member showed myopathic features on needle electromyography and no definite pathology in repetitive stimulation studies. The diagnosis of EDMD was established by demonstrating a 1712_1713insTGGGC mutation in the emerin gene. This family apparently expresses co-morbidity of EDMD with an exceptionally mild form of pre-synaptic congenital myasthenic syndrome resembling the Lambert,Eaton myasthenic syndrome (LEMS). The superimposed pre-synaptic disorder may have contributed to the development of the neurogenic features demonstrated in these patients. [source] Pathogenesis of haemophilic synovitis: clinical aspectsHAEMOPHILIA, Issue 2007W. K. HOOTS Summary., Arthropathy remains a major cause of morbidity in patients with haemophilia. Frequent bleeding into the joints leads to joint damage with resultant contractures, joint deformities and arthritis. This in turn leads to muscle atrophy, limited physical activity, osteoporosis and disability. Even though several studies of prophylactic factor replacement for persons with severe haemophilia demonstrate improved joint function, this therapy is still not readily available to most people with haemophilia around the world and a universal treatment protocol has not been used. In this article, we discuss key issues in the treatment of severe haemophilia: the optimal timing of initiation and termination of therapy, dosing options and goals of therapy. The options for countries where prophylaxis is not readily available are also discussed. Most studies are small and not randomized making consensus treatment recommendations difficult to formulate. Randomized, clinical trials are needed to provide the answers regarding the optimal treatment of patients with severe haemophilia. [source] Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures,,HUMAN MUTATION, Issue 3 2005Angela M. Kaindl Abstract Microdeletion syndromes are commonly transmitted as dominant traits and are frequently associated with variably expressed pleiotropic phenotypes. Nonlethal homozygous microdeletions, on the other hand, are very rare. Here, we delineate the fifth and so far largest homozygous microdeletion in nonmalignancies of approximately 400 kb on chromosome 4q11-q12 in a large consanguineous East-Anatolian family with six affected patients. The deleted region contains the beta-sarcoglycan gene (SGCB), the predicted gene SPATA18 (spermatogenesis associated 18 homolog) and several expressed sequence tags. Patients presented with a severe and progressive Duchenne-like muscular dystrophy phenotype, a combination of hyperlaxity and joint contractures, chest pain, palpitations, and dyspnea. © 2005 Wiley-Liss, Inc. [source] A case of progressive pseudorheumatoid arthropathy of ,childhood' with the diagnosis delayed to the fifth decadeINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 10 2006A. CEFLE Summary Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare single gene disorder which is frequently misdiagnosed as juvenile rheumatoid arthritis. It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. Clinical and laboratory signs of joint inflammation such as synovitis, a high erythrocyte sedimentation rate and an elevated C-reactive protein level are usually absent. Although the disease begins early in life (usually between 3 and 8 years of age), the diagnosis may be delayed. In the present case report, we describe a male patient diagnosed with PPAC at the age of 46 years, although he had been exhibiting the typical radiological and clinical features of the disease since the age of 7 years. [source] Nephrogenic fibrosing dermopathy/nephrogenic systemic fibrosis: a case series of nine patients and review of the literatureINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 5 2007Camille E. Introcaso MD Background, Nephrogenic fibrosing dermopathy/nephrogenic systemic fibrosis (NFD/NSF) is a fibrosing cutaneous disorder recently recognized to have systemic manifestations. The disease is characterized clinically by an acute onset of hardening and thickening of the skin of the extremities and trunk, often resulting in flexion contractures, and histologically by an increase in spindle-shaped cells, collagen, and sometimes mucin deposition in the dermis. The only common exposure amongst patients is acute or chronic renal failure. The pathophysiology of the disease remains to be elucidated, and there is currently no consistently effective treatment for this unremitting disease. Methods, We report a case series of nine patients seen at the University of Pennsylvania between 1998 and mid-2004. The clinical, laboratory, and pathologic data of these patients are reviewed. Results, All patients had renal disease, received peritoneal or hemodialysis, and five had received at least one renal transplant. All patients had characteristic fibrotic cutaneous lesions involving the trunk, extremities, or both, and eight of the nine patients had scleral plaques. There were no other common findings amongst the histories, medications, or laboratory results of the patients. Conclusion, Our report confirms the clinical and histologic characteristics of NFD that have been described previously, and raises new issues regarding the possible subtypes. A review of the current literature stresses that further basic science and translational studies are necessary to understand the disease mechanism and to propose effective therapy, and emphasizes the importance of recognizing the systemic effects of NFD. [source] Juvenile hyaline fibromatosis: a case report and review of the literatureINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 11 2004Jean E. Thomas MD Background, Juvenile hyaline fibromatosis (JHF) is a rare, inherited condition characterized by tumor-like growth of hyalinized fibrous tissue on the head and neck, joint contractures, and gingival hypertrophy. There may be marked clinical heterogeneity. Methods, We present a case of a 3-year-old Haitian boy with multiple firm nodules on the scalp and chin without joint contractures or gingival hypertrophy. Family history was not available. Results, Biopsy specimens from three scalp nodules were processed with routine and immunohistochemical stains. The matrix was periodic acid Schiff (PAS) and Alcian blue positive. The cellular stromal component was positive for vimentin and scattered factor XIIIa positive cells were found. Osteoclast-like giant cells were also noted, and stained for CD68. Conclusions, Our patient had the nodular growths on the scalp and face that are characteristically found in JHF. Microscopic examination confirmed the diagnosis and showed scattered intracytoplasmic and extracellular eosinophilic globules in three separate biopsy specimens. These were positive with PAS. [source] Lifestyle limitations of children and young people with severe cerebral palsy: a population study protocolJOURNAL OF ADVANCED NURSING, Issue 5 2008Collette Donnelly Abstract Title.,Lifestyle limitations of children and young people with severe cerebral palsy: a population study protocol Aim., This paper is a presentation of a study protocol to establish the prevalence of orthopaedic problems (hip dislocation, pelvic obliquity, spinal deformity and contractures) and their impact on pain, function, participation and health in a population of children and young people with severe cerebral palsy. Background., Cerebral palsy is the commonest cause of motor impairment in childhood and is associated with life-long disability. An estimated 30% of people with cerebral palsy have severe forms and are non-ambulant. Although the underlying neurological damage is not amenable to correction, many health services are dedicated to providing therapeutic and adaptive support to help people with the condition reach their potential. Method., A cross-sectional survey of children and young people, aged 4,25 years with severe, non-ambulant cerebral palsy as defined using the Gross Motor Function Classification System (Levels IV and V). Study participants will be identified from a pre-existing, geographically defined case register and recruited via a healthcare professional known to them. Two assessments will be undertaken: one involving parents/carers at home and using questionnaires; the other involving the child/young person ideally in one of three settings and including X-rays if clinically indicated. Discussion., This study will contribute to our knowledge of the history and epidemiology of orthopaedic problems in children and young people with cerebral palsy and how these problems accumulate and impact on participation, health and well-being. The study will also identify unmet need and make recommendations for good practice in relation to the orthopaedic care and management for people with severe cerebral palsy. [source] Joint capsule mast cells and neuropeptides are increased within four weeks of injury and remain elevated in chronic stages of posttraumatic contracturesJOURNAL OF ORTHOPAEDIC RESEARCH, Issue 10 2008Kevin A. Hildebrand Abstract The purpose of this article was to determine mast cell and neuropeptide nerve fiber numbers in joint capsules in posttraumatic contractures, as elevated numbers have been implicated in other fibrotic and contracture conditions. Twelve skeletally mature rabbits had intraarticular cortical windows removed from the medial and lateral femoral condyles and the knee joint immobilized. The contralateral unoperated limb served as a control. Equal numbers of rabbits were sacrificed 4 weeks after surgery or 40 weeks after the first surgery that included 32 weeks of remobilization. Six patients with chronic posttraumatic elbow joint contractures and six age-matched organ donor controls free of elbow contractures were also studied. Joint capsule myofibroblast, mast cell, and neuropeptide containing nerve fiber numbers were assessed with immunohistochemistry. The numbers of myofibroblasts, mast cells, and neuropeptide containing nerve fibers expressed as a percentage of total cells were significantly greater in the contracture capsules when compared to the control capsules at all time points (p,<,0.0001). The range of percentages for the three components in the contracture capsules versus the controls were 41,48% versus 9,10%, 44,50% versus 11,13%, and 45,50% versus 10,12% for the acute and chronic stages of the rabbit model and the chronic stages in the human elbows, respectively. These data support the hypothesis that a myofibroblast,mast cell,neuropeptide fibrosis axis may underlie some of the pathologic changes in the joint capsule in posttraumatic contractures. Approaches designed to manipulate this axis, such as preventing degranulation of mast cells, warrant further investigation. © 2008 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 26:1313,1319, 2008 [source] Treatment of cervical dystonia with botulinum toxinMOVEMENT DISORDERS, Issue S8 2004Joseph Jankovic MD Abstract Cervical dystonia (CD) is the most common form of dystonia encountered in a movement disorders clinic. The treatment of this focal dystonia has improved markedly with the advent on botulinum toxin (BTX) injections, which has now become the treatment of choice. Initial studies, even double-blind controlled trials, failed to show robust effect, largely as a result of poor design, often using fixed dosage and site of administration. When the BTX treatment is customized to the needs of the individual patients and the most involved muscles are targeted, the effects can be quite dramatic and the improvement usually lasts 3 to 4 months. Experience and improved skills can largely prevent the adverse effects such as dysphagia and neck weakness. Although there is no evidence that BTX slows the progression of the disease, as a result of early intervention with BTX, many of the long-term complications of CD, such as contractures and radiculopathy, have been largely eliminated. © 2004 Movement Disorder Society [source] Static orthoses in the prevention of hand dysfunction in rheumatoid arthritis: a review of the literatureMUSCULOSKELETAL CARE, Issue 2 2005DipCOT Lecturer in Occupational Therapy, Jo Adams MSc Abstract Static orthoses are recommended for individuals who have early rheumatoid arthritis (Scottish Intercollegiate Guidelines Network, 2002; College of Occupational Therapists, 2003). These orthoses aim to rest and immobilize weakened joint structures and decrease local inflammation (Janssen et al., 1990; Nicholas et al., 1982); correctly position joints (Nordenskiöld, 1990; Ouellette, 1991); minimize joint contractures (McClure et al., 1994); increase joint stability (Kjeken et al., 1995); relieve pain (Feinberg, 1992; Callinan and Mathiowetz, 1996; Kjeken et al., 1995) and improve function (Janssen et al., 1990; Pagnotta et al., 1998; Nordenskiöld, 1990). Wrist and hand orthoses have been routinely prescribed for individuals with rheumatoid arthritis (RA) for the last 30 years with limited evidence that they are effective in achieving their purported aims. This article reviews the possible deterioration in hand structure that can occur in RA and discusses the theoretical basis for the application of static orthoses in RA. The evidence for the effectiveness of four commonly used static orthoses is then examined. Copyright © 2005 Whurr Publishers Ltd. [source] Autophagic vacuolar myopathy in twin girlsNEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 3 2006J. L. Holton Hereditary autophagic vacuolar myopathy (AVM) may occur in several diseases including the rimmed vacuolar myopathies, acid maltase deficiency, Danon disease, infantile autophagic vacuolar myopathy and X-linked myopathy with excessive autophagy (XMEA). In the latter three conditions the vacuoles are lined by membranes with sarcolemmal features. We present two unusual cases of autophagic vacuolar myopathy in twin girls born at term with no family history of neurological disease. After initial normal developmental milestones they developed progressive leg weakness and wasting with contractures from the age of 12 years. Investigations showed raised CK, normal female karyotype, normal acid maltase activity, normal nerve conduction and myopathic EMG features. Frozen sections of skeletal muscle were stained using routine tinctorial and histochemical methods. Immunohistochemical staining for spectrin, merosin, dystrophin, complement membrane attack complex and sarcoglycans was performed and ultrastructural examination undertaken. Direct sequence analysis of the lamp-2 gene using genomic DNA extracted from lymphocytes was performed. Histological analysis of the muscle biopsies demonstrated myofibres with vacuoles lacking glycogen and lipid many of which were delineated using immunohistochemistry for merosin, dystrophin and sarcoglycans. Ultrastructural examination showed duplication of the myofibre basal lamina with associated autophagic material. Vacuoles within myofibres were either membrane bound containing autophagic material or lined by plasma membrane and basal lamina. Intermyofibrillar glycogen was increased. Sequence analysis of the coding region and intron/exon boundaries of the lamp-2 gene was normal. This is the first report of female cases of AVM with sarcolemmal features. We suggest that these patients may represent manifesting carriers of XMEA, or alternatively, a new form of disease with a similar phenotype having autosomal recessive inheritance. [source] Farber's disease diagnosed by nerve biopsyNEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 2 2002J. Jacobs Introduction:, Farber's disease (granulomatosis) is a rare inherited lipid storage disease caused by a deficiency of lysosomal acid-ceramidase. Clinical features include contractures of limbs with swelling of joints and multiple subcutaneous nodules. In a few cases there is prominent involvement of central and peripheral nervous systems. Ceramide accumulates in the nodules and in cells of many other tissues including brain. Electron microscopy of affected cells shows membrane-bound inclusions, some of which have a highly characteristic curved or ,banana' shape (Farber bodies). Nerve biopsy findings have been described in a few cases but our patient appears to be the first to have been diagnosed by nerve biopsy. Case report:, This male infant presented at 6 months with joint pain and swelling, fever weakness and nystagmus: EMNG demonstrated sensory-motor polyneuropathy with features of demyelination. Semi-thin resin sections show a moderately reduced density of myelinated fibres. The myelin sheaths of most fibres are inappropriately thin, which was confirmed morphometrically: some axons are demyelinated. Vacuolar inclusions are seen in some Schwann cells. Teased fibres show de- and remyelination. Electron microscopy shows oval, boomerang- or banana-shaped inclusions in Schwann cells associated with myelinated and unmyelinated axons, but not in other cell types. Conclusion:, Farber's disease is associated with a demyelinating neuropathy. [source] Physical Medicine and Rehabilitation (88)PAIN PRACTICE, Issue 1 2001A. Suputtitada: Managing spasticity in pediatric cerebral palsy using a very low dose of botulinum toxin type A: preliminary report. (Chulalongkorn University Hospital, Bangkok, Thailand) Am J Phys Med Rehabil 2000;79:320,326. This study was conducted to determine if very low doses of botulinum toxin type A (BTX-A) could reduce spasticity and improve gait in cerebral palsied children when combined with rehabilitation therapy. The trainable (IQ> 80), ambulatory, spastic diplegic or hemiplegic cerebral palsied children, with no fixed contractures in at least one limb, were selected for this study. Patients with a score of 3 on a modified Ashworth scale received 0.5 units of BTX-A/kg/muscle. Patients with an Ashworth score of 4 received 1.0 BTX-A/kg/muscle. After BTX-A injection, all patients received rehabilitation therapy and plastic ankle and foot orthoses for walking. Both groups exhibited improvement in Ashworth score and in gait within 72 h of injection with botulinum toxin. Beneficial effects persisted for 10 to 12 months in most patients, with 3 patients exhibiting benefits for at least 20 months. Conclude that a very low dose of BTX-A combined with rehabilitation therapy resulted in a long-lasting decrease in spasticity and an improvement in gait in children with cerebral palsy. [source] 006 Efficacy of photochemotherapy and UVA-1 therapy in patients with morphea or lichen sclerosusPHOTODERMATOLOGY, PHOTOIMMUNOLOGY & PHOTOMEDICINE, Issue 2 2002K. Ghoreschi Morphea and lichen sclerosus are inflammatory skin diseases of unknown aetiology. Morphea can be subdivided into plaque morphea, linear morphea and disabling or generalized morphea. In most patients morphea leads to superficial or deep sclerosis of the skin. The characteristic features of lichen sclerosus which often affects the genital area are edema of upper dermis, inflammatory infiltration and hyalinisation to the dermis at advanced stages. Patients with morphea or lichen sclerosus suffer especially from scar formation and morphea may lead to severe disfigurement, contractures and reduction of quality of life. Skin sclerosis seems to be the result of vascular damage, T cell activation and altered connective tissue production. Various therapies have been reported for lichen sclerosus and morphea. Whereas the topical use of ultrapotent corticosteroids is well established for genital lichen sclerosus, immunosuppressive agents are normally not successful in resolving extragenital skin sclerosis. In a retrospective study we confirmed the efficacy of phototherapy in more than 50 patients with morphea. Fourty treatments with 30 J/cm2 UVA-1 or PUVA-bath photochemotherapy resulted in a significant improvement, reduced skin thickness, as determined by high frequency ultrasound and reconstitution of functional mobility of the skin and even the underlying fasciae. In lichen sclerosus phototherapy was successful only in some patients. Thus for lichen sclerosus the use of topical corticosteroids is the first choice therapy, while phototherapy using either PUVA-bath or medium dose UVA-1 are the most effective treatments for morphea. [source] Does stretching induce lasting increases in joint ROM?PHYSIOTHERAPY RESEARCH INTERNATIONAL, Issue 1 2002A systematic review Abstract Background and Purpose Stretching (that is, interventions that apply tension to soft tissues) induces increases in the extensibility of soft tissues, and is therefore widely administered to increase joint mobility and reverse contractures. However, it is not clear whether the effects of stretching are lasting. A systematic review was conducted to determine if stretching (either self-administered, administered manually by therapists or by some external device such as a splint) produces lasting increases in the mobility of joints not directly affected by surgery, trauma or disease processes. Method In order to determine the lasting effects of stretching, only studies that measured joint range of motion (ROM) at least one day after the cessation of stretching were included. MEDLINE (from 1966 to June 2000), EMBASE (from 1988 to June 2000), the Cochrane Controlled Trials Register and PEDro databases were searched, and citation tracking was used to identify randomized studies that met the inclusion criteria. Each study was rated by two independent assessors on the PEDro scale, which rated trials according to criteria such as concealed allocation, blinding and intention-to-treat analysis. Results Thirteen studies satisfied the inclusion criteria. All examined the effect of stretching (median number of stretch sessions = eight) on joint ROM in healthy subjects without functionally significant contractures. Four studies were of ,moderate' quality and the remaining nine were of ,poor' quality. The ,moderate' quality studies suggest that regular stretching increases joint ROM (mean increase in ROM = 8°;95% CI 6° to 9°) for more than one day after cessation of stretching and possibly that the effects of stretching are greater in muscle groups with limited extensibility. Conclusions The results of four ,moderate' quality studies show a convincing effect of stretching in people without functionally significant contracture. These findings require verification with high-quality studies. Lasting effects of intensive stretching programmes (for example, stretching applied for more than six weeks or for more than 20 minutes a day) or of stretching on people with functionally significant contracture have not yet been investigated with randomized studies. Copyright © 2002 Whurr Publishers Ltd. [source] Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophyPHYSIOTHERAPY RESEARCH INTERNATIONAL, Issue 3 2001Birgit Steffensen Abstract Background and Purpose The EK scale comprises ten categories (EK 1,10), each contributing to an overall picture of function in the non-ambulatory stage of Duchenne muscular dystrophy (DMD). The purpose of the present study was to investigate content and construct validity of the EK scale as a tool to discriminate between levels of functional ability in individuals with DMD or spinal muscular atrophy (SMA) who were non-ambulatory. Method Data from a sample of 56 subjects with DMD and 38 with SMA, who were non-ambulatory, were obtained from four separate studies. The relationship of functional ability by use of the EK scale and (1) muscle strength, (2) contractures, (3) forced vital capacity and (4) years of wheelchair dependency were assessed. All items of the EK scale were used except the one representing severe hypoventilation. Results Regression analyses showed that the EK sum was the most significant explanatory variable (p<0.05) of all variables measured to explain muscle strength in both DMD and SMA subjects. The individual categories of EK (1,10) all contributed as significant explanatory variables (p<0.05) to the other variables measured. Conclusions The categories and items of the EK scale were relevant and valid as means of discriminating between levels of functional performance in the population studied which was evidence of content and construct validity. Copyright © 2001 Whurr Publishers Ltd. [source] Effect of elbow flexion contractures on the ability of people with C5 and C6 tetraplegia to liftPHYSIOTHERAPY RESEARCH INTERNATIONAL, Issue 2 2001Lisa Harvey Abstract Background and Purpose It is commonly assumed that minor elbow flexion contractures prevent people with C5,C6 tetraplegia and paralysis of the triceps brachii muscles from bearing full body weight through their upper limbs. The aim of the present study was to determine the effect of simulated bilateral elbow flexion contractures on the ability of these individuals to bear weight through their upper limbs and to determine whether full passive elbow extension is truly critical for lifting body weight. Method A biomechanical study was performed. Body weight lifted was measured under conditions that simulated bilateral elbow flexion contractures. Five people with motor complete C6 tetraplegia and one person with motor complete C5 tetraplegia, all with bilateral paralysis of the triceps brachii muscles, were recruited to the study. Subjects were fitted with bilateral elbow splints that restricted elbow extension but did not restrain elbow flexion nor prevent the elbow from collapsing, and were seated on an instrumented platform that measured vertical forces under the buttocks. Subjects pushed down through their hands and lifted under five different conditions, namely: with no elbow splints; with bilateral elbow splints adjusted to restrict elbow extension by 5,10°; by 15,20°; by 25,30° and with bilateral elbow splints adjusted to allow unrestricted movement of the elbow joint. Maximal weight lifted from under the buttocks, for each condition, was expressed in relation to weight under the buttocks during unsupported sitting (that is, ,seated body weight'). Results Subjects lifted progessively less weight from under their buttocks as passive elbow restriction was progressively restricted. However, one subject lifted all his seated body weight when elbow extension was restricted by 5,10° and another lifted all his seated body weight when elbow extension was restricted by 5,10° and 15,20°. Conclusions Minor elbow flexion contractures will not alone prevent people with tetraplegia and paralysis of the triceps brachii muscles from lifting. Full passive elbow extension is not critical for the performance of this task. Copyright © 2001 Whurr Publishers Ltd. [source] Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasoundPRENATAL DIAGNOSIS, Issue 6 2007Simon Holden Abstract We describe a case of Harlequin Icthyosis where the main 2D and 3D ultrasound findings were digital contractures as opposed to the more commonly described severe facial dysmorphisms. A prenatal finding of distal arthrogryposis can therefore include harlequin icthyosis as a differential diagnosis, where 3D ultrasound may then disclose the facial features more commonly associated with the condition. Copyright © 2007 John Wiley & Sons, Ltd. [source] Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2BPRENATAL DIAGNOSIS, Issue 5 2007Miao Jiang Abstract Autosomal dominant distal arthrogryposes (DAs) are a group of muscle diseases characterized by congenital contractures of the limbs. Currently, prenatal diagnosis of DAs depends upon ultrasound examination during late gestation. Recently, five genes encoding fast switch proteins located at 9p13.2, 11p15.5 and 17q13.1 were identified. These included TPM2, TNNI2/TNNT3, and MYH3/MYH8. Last year, we discovered a novel heterozygous mutation c.523_525delAAG (p.K175del) in the TNNI2 gene, which encodes the isoform of troponinI, in a seven-generation Chinese family affected with distal arthrogryposis type 2B (DA2B). Here, we report the molecular prenatal diagnosis of 3 high-risk fetuses of two women in the family by two-point linkage inferential analysis and deletion detection of the TNNI2 gene with chorionic villus sampling (CVS) or amniocentesis. To our knowledge, this is the first description of molecular prenatal diagnosis for DAs. Copyright © 2007 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of Bruck syndromePRENATAL DIAGNOSIS, Issue 7 2005C. Berg Abstract Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself. Copyright © 2005 John Wiley & Sons, Ltd. [source] Ca2+ -independent hypoxic vasorelaxation in porcine coronary arteryTHE JOURNAL OF PHYSIOLOGY, Issue 3 2005Min Gu To demonstrate a Ca2+ -independent component of hypoxic vasorelaxation and to investigate its mechanism, we utilized permeabilized porcine coronary arteries, in which [Ca2+] could be clamped. Arteries permeabilized with ,-escin developed maximum force in response to free Ca2+ (6.6 ,m), concomitant with a parallel increase in myosin regulatory light chain phosphorylation (MRLC-Pi), from 0.183 ± 0.023 to 0.353 ± 0.019 MRLC-Pi (total light chain),1. Hypoxia resulted in a significant decrease in both force (,31.9 ± 4.1% prior developed force) and MRLC-Pi (from 0.353 to 0.280 ± 0.023), despite constant [Ca2+] buffered by EGTA (4 mm). Forces developed in response to Ca2+ (6.6 ,m), Ca2+ (0.2 ,m) + GTP,S (1 mm), or in the absence of Ca2+ after treatment with ATP,S (1 mm), were of similar magnitude. Hypoxia also relaxed GTP,S contractures but importantly, arteries could not be relaxed after treatment with ATP,S. Permeabilization with Triton X-100 for 60 min also abolished hypoxic relaxation. The blocking of hypoxic relaxation after ATP,S suggests that this Ca2+ -independent mechanism(s) may operate through alteration of MRLC-Pi or of phosphorylation of the myosin binding subunit of myosin light chain phosphatase. Treatment with the Rho kinase inhibitor Y27632 (1 ,m) relaxed GTP,S and Ca2+ contractures; but the latter required a higher concentration (10 ,m) for consistent relaxation. Relaxations to N2 and/or Y27632 averaged 35% and were not additive or dependent on order. Our data suggest that the GTP-mediated, Rho kinase-coupled pathway merits further investigation as a potential site of this novel, Ca2+ -independent O2 -sensing mechanism. Importantly, these results unambiguously show that hypoxia-induced vasorelaxation can occur in permeabilized arteries where the Ca2+ is clamped at a constant value. [source] | ||||||||||||||||||||||||||||