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Journal of Neuromuscular Diseases 2022Joint contractures are common in boys and men with Duchenne muscular dystrophy (DMD), and management of contractures is an important part of care. The optimal methods to...
BACKGROUND
Joint contractures are common in boys and men with Duchenne muscular dystrophy (DMD), and management of contractures is an important part of care. The optimal methods to prevent and treat contractures are controversial, and the natural history of contracture development is understudied in glucocorticoid treated individuals at joints beyond the ankle.
OBJECTIVE
To describe the development of contractures over time in a large cohort of individuals with DMD in relation to ambulatory ability, functional performance, and muscle quality measured using magnetic resonance imaging (MRI) and spectroscopy (MRS).
METHODS
In this longitudinal study, range of motion (ROM) was measured annually at the hip, knee, and ankle, and at the elbow, forearm, and wrist at a subset of visits. Ambulatory function (10 meter walk/run and 6 minute walk test) and MR-determined muscle quality (transverse relaxation time (T2) and fat fraction) were measured at each visit.
RESULTS
In 178 boys with DMD, contracture prevalence and severity increased with age. Among ambulatory participants, more severe contractures (defined as greater loss of ROM) were significantly associated with worse ambulatory function, and across all participants, more severe contractures significantly associated with higher MRI T2 or MRS FF (ρ: 0.40-0.61 in the lower extremity; 0.20-0.47 in the upper extremity). Agonist/antagonist differences in MRI T2 were not strong predictors of ROM.
CONCLUSIONS
Contracture severity increases with disease progression (increasing age and muscle involvement and decreasing functional ability), but is only moderately predicted by muscle fatty infiltration and MRI T2, suggesting that other changes in the muscle, tendon, or joint contribute meaningfully to contracture formation in DMD.
Topics: Contracture; Humans; Longitudinal Studies; Magnetic Resonance Imaging; Male; Muscle, Skeletal; Range of Motion, Articular
PubMed: 35124659
DOI: 10.3233/JND-210731 -
PloS One 2017One of the major determinants of Dupyutren disease (DD) treatment efficacy is recurrence of the contracture. Unfortunately, lack of agreement in the literature on what...
PURPOSE
One of the major determinants of Dupyutren disease (DD) treatment efficacy is recurrence of the contracture. Unfortunately, lack of agreement in the literature on what constitutes recurrence makes it nearly impossible to compare the multiple treatments alternatives available today. The aim of this study is to bring an unbiased pool of experts to agree upon what would be considered a recurrence of DD after treatment; and from that consensus establish a much-needed definition for DD recurrence.
METHODS
To reach an expert consensus on the definition of recurrence we used the Delphi method and invited 43 Dupuytren's research and treatment experts from 10 countries to participate by answering a series of questionnaire rounds. After each round the answers were analyzed and the experts received a feedback report with another questionnaire round to further hone in of the definition. We defined consensus when at least 70% of the experts agreed on a topic.
RESULTS
Twenty-one experts agreed to participate in this study. After four consensus rounds, we agreed that DD recurrence should be defined as "more than 20 degrees of contracture recurrence in any treated joint at one year post-treatment compared to six weeks post-treatment". In addition, "recurrence should be reported individually for every treated joint" and afterwards measurements should be repeated and reported yearly.
CONCLUSION
This study provides the most comprehensive to date definition of what should be considered recurrence of DD. These standardized criteria should allow us to better evaluate the many treatment alternatives.
Topics: Clinical Decision-Making; Disease Management; Dupuytren Contracture; Expert Testimony; Humans; Recurrence; Treatment Outcome
PubMed: 28505187
DOI: 10.1371/journal.pone.0164849 -
BMC Musculoskeletal Disorders Aug 2018Lower extremity joint contractures have negative effects on gait in children with Duchenne muscular dystrophy (DMD). Thus, contracture prevention is essential for...
BACKGROUND
Lower extremity joint contractures have negative effects on gait in children with Duchenne muscular dystrophy (DMD). Thus, contracture prevention is essential for maintaining a patient's functional ability and an acceptable quality of life. This study investigated hip flexion (HF), knee flexion (KF), and ankle joint plantar flexion (APF) contractures among male patients with DMD, based on the patients' ambulatory status. Differences in major joint contractures, based on passive stretching exercise participation, were also investigated.
METHODS
A total of 128 boys with DMD, followed at the DMD clinic of a tertiary care hospital, were included in this cross-sectional study. The passive ranges-of-motion of the hip, knee, and ankle joints were measured, in the sagittal plane, using a goniometer. The Vignos Scale was used to grade ambulatory function. Boys with DMD who performed stretching exercises for more than 5 min/session, > 3 sessions/week, were classified into the stretching group.
RESULTS
The HF (23.5), KF (43.5), and APF (34.5) contracture angles in the non-ambulatory group were more severe than those in the ambulatory group. APF contractures (41 patients, 52.6%) were more frequently observed early, even within the ambulatory period, than were hip (8 patients, 10.3%), and knee joint (17 patients, 21.8%) contractures. Passive stretching exercises > 3 sessions/week were not associated with the degree of lower extremity joint contractures in the ambulatory or non-ambulatory group.
CONCLUSION
HF, KF, and APF contractures are more common and severe when there is deterioration of ambulatory function. Stretching exercises alone are unlikely to prevent lower extremity joint contractures.
Topics: Adolescent; Age Factors; Ankle Joint; Biomechanical Phenomena; Child; Child, Preschool; Contracture; Cross-Sectional Studies; Gait; Hip Contracture; Hip Joint; Humans; Knee Joint; Male; Mobility Limitation; Muscle Stretching Exercises; Muscular Dystrophy, Duchenne; Range of Motion, Articular; Retrospective Studies; Treatment Outcome
PubMed: 30111310
DOI: 10.1186/s12891-018-2212-6 -
Demographic and modifiable factors associated with knee contracture in children with cerebral palsy.Developmental Medicine and Child... Apr 2018To identify the prevalence of knee contracture and its association with gross motor function, age, sex, spasticity, and muscle length in children with cerebral palsy...
AIM
To identify the prevalence of knee contracture and its association with gross motor function, age, sex, spasticity, and muscle length in children with cerebral palsy (CP).
METHOD
Cross-sectional data for passive knee extension were analysed in 3 045 children with CP (1 756 males, 1 289 females; mean age 8y 1mo [SD 3.84]). CP was classified using the Gross Motor Function Classification System (GMFCS) levels I (n=1 330), II (n=508), III (n=280), IV (n=449), and V (n=478). Pearson's χ test and multiple binary logistic regression were applied to analyse the relationships between knee contracture and GMFCS level, sex, age, spasticity, hamstring length, and gastrocnemius length.
RESULTS
Knee contracture greater than or equal to 5 degrees occurred in 685 children (22%). The prevalence of knee contracture was higher in older children and in those with higher GMFCS levels. Odds ratios (ORs) for knee contracture were significantly higher for children at GMFCS level V (OR=13.17), with short hamstring muscles (OR=9.86), and in the oldest age group, 13 years to 15 years (OR=6.80).
INTERPRETATION
Knee contracture is associated with higher GMFCS level, older age, and shorter muscle length; spasticity has a small effect. Maintaining muscle length, especially of the hamstrings, is important for reducing the risk of knee contracture.
WHAT THIS PAPER ADDS
Knee contracture occurs in children with cerebral palsy at all Gross Motor Function Classification System (GMFCS) levels. Knee contracture in children is associated with short hamstring muscles, higher GMFCS level, and older age. Short hamstring muscles present a greater risk for knee contracture than spasticity.
Topics: Adolescent; Age Distribution; Cerebral Palsy; Child; Child, Preschool; Contracture; Cross-Sectional Studies; Demography; Female; Humans; Infant; Knee Joint; Male; Muscle, Skeletal; Range of Motion, Articular; Severity of Illness Index
PubMed: 29318610
DOI: 10.1111/dmcn.13659 -
Medicina (Kaunas, Lithuania) Aug 2022Checkrein deformity (CD) is a dynamic deformity of the hallux characterized by flexion contracture of the interphalangeal (IF) joint and extension contracture of the... (Review)
Review
Checkrein deformity (CD) is a dynamic deformity of the hallux characterized by flexion contracture of the interphalangeal (IF) joint and extension contracture of the metatarsophalangeal (MTP) joint, worsened by ankle dorsiflexion. It is due to post-traumatic or ischemic retraction of the long hallux flexor tendon (FHL) following soft tissue trauma, leg fractures, ankle fractures and, more rarely, calcaneal or talar fractures. Diagnosis is essentially clinical, associated with imaging, to rule out unrecognized causes and evaluate fracture healing process. Few cases are reported in literature without univocal treatment. Background and Objectives: To analyze clinical and functional outcomes in patients with CD treated with release and retro-malleolar Z-plasty lengthening of FHL tendon. Materials and Methods: Patients diagnosed with CD treated with retro-malleolar (at tarsal tunnel) Z-plasty lengthening of the FHL tendon between January 2016 and August 2020 were included. Clinical and functional outcomes were collected on admission and post-surgery and analysed retrospectively. Patients with a minimum follow-up of 18 months were included. Results: A total of 14 patients, with mean age of 37.4 years old, with CD diagnosis were included in the study. All patients were suffering from post-traumatic CD and the mean time from trauma to onset of deformity was of 7 months (range 1−12). At a mean follow-up of 31.8 months (range 18−48) we found a significant improvement (p < 0.05) in terms of pain relief (VAS), function (AOFAS score) and ROM of the IP and MTP hallux joints. No recurrence, loss of strength, nerve injury or tarsal tunnel syndrome were observed. No patient required revision surgery. Conclusions: In this case series the retro-malleolar FHL tendon Z-plasty proved to be a suitable option for CD correction, allowing a good clinical and functional recovery.
Topics: Adult; Contracture; Fractures, Bone; Hallux; Humans; Metatarsophalangeal Joint; Retrospective Studies; Tendon Transfer; Tendons
PubMed: 36013539
DOI: 10.3390/medicina58081072 -
Acta Orthopaedica Feb 2008A recently developed animal model of posttraumatic contractures reflects the chronic stages of the human condition. To understand the initiation of the process, we...
BACKGROUND AND PURPOSE
A recently developed animal model of posttraumatic contractures reflects the chronic stages of the human condition. To understand the initiation of the process, we evaluated the cellular, matrix, and growth factor changes in the joint capsule in the early stages of the animal model, which would not be possible in humans.
METHODS
18 skeletally mature rabbits had intraarticular cortical windows removed from the medial and lateral femoral condyles, and the knee joint was immobilized. The contralateral unoperated limb served as a control. Equal numbers of rabbits were killed 2,4, and 6 weeks after surgery. Myofibroblast, mRNA, and protein determinations were done with immunohistochemistry, RT-PCR, and western blot, respectively.
RESULTS
Myofibroblast numbers were statistically significantly elevated in the joint capsules of the experimental knees as compared to control knees. The mRNA and protein levels for collagen types I and III, matrix metalloproteinases 1 and 13, and transforming growth factor beta1 were statistically significantly greater, and for tissue inhibitor of matrix metalloproteinases 1 significantly less, in the experimental capsules than in the control capsules.
INTERPRETATION
The experimental joint capsule changes in the acute stages of posttraumatic contractures are similar to those in the chronic stages of the process in this model. Thus, it appears that the mechanisms that attenuate the acute stages of the response to injury are circumvented, contributing to a prolonged modulation of myofibroblast numbers, matrix molecules and growth factors, and leading to joint contractures. Thus, in clinical practice, new approaches to prevention of posttraumatic contractures should be implemented as soon as possible.
Topics: Animals; Blotting, Western; Collagen; Contracture; Extracellular Matrix Proteins; Fibroblasts; Intercellular Signaling Peptides and Proteins; Joint Capsule; Knee Injuries; Knee Joint; Matrix Metalloproteinases; Models, Biological; RNA, Messenger; Rabbits; Time Factors
PubMed: 18283583
DOI: 10.1080/17453670710014860 -
Journal of Orthopaedic Research :... May 2023Joint immobilization, which ensures rest and accelerates tissue recovery in musculoskeletal disorders, often causes joint contracture, for which there is still no...
Joint immobilization, which ensures rest and accelerates tissue recovery in musculoskeletal disorders, often causes joint contracture, for which there is still no effective prevention. To address this, we investigated the effects of extracorporeal shockwave therapy (ESWT) in preventing joint contracture, in a unilaterally immobilized knee rat model. Under general anesthesia, ESWT (0.25 mJ/mm , 3000 shot, 4 Hz, 3 days/week) was administered from 1 day after immobilization up to 2, 4, and 6 weeks. The immobilized control group received general anesthesia without ESWT. We evaluated joint angle, tissue elasticity, and gene and protein expression related to fibrosis, inflammation, and angiogenesis in the joint capsule. Relative to the control, the ESWT group had greater joint angle at 4 and 6 weeks, and lower posterior-capsule elasticity at 6 weeks. In the ESWT group, at 6 weeks, gene expression of collagen type I (col1α1), connective tissue growth factor (CTGF), and α-smooth muscle actin (α-SMA) was significantly downregulated, whereas interleukin-6 (IL-6) and hypoxia-inducible factor-1α (HIF-1α) gene expression was upregulated, relative to that in the control. Compared with that in the control, at 4 and 6 weeks, the ratio of CTGF cells was significantly lower in the ESWT group; at 4 weeks, the ESWT group had significantly fewer CD68 cells in the adhesion area, and at 6 weeks, significantly more blood vessels. Statement of Clinical Significance: In a rat model, ESWT counteracted fibrosis, suppressed macrophage infiltration, and promoted neovascularization, reducing elasticity, and increasing joint range-ofmotion. ESWT offers a potential new strategy to prevent progression in joint contracture.
Topics: Rats; Animals; Extracorporeal Shockwave Therapy; Knee Joint; Joint Capsule; Contracture; Fibrosis
PubMed: 36031592
DOI: 10.1002/jor.25433 -
Hand (New York, N.Y.) Nov 2020Camptodactyly is a pediatric hand condition, the treatment of which remains controversial. The authors' aim was to improve patient care through clarifying the definition...
Camptodactyly is a pediatric hand condition, the treatment of which remains controversial. The authors' aim was to improve patient care through clarifying the definition of camptodactyly and indications for surgical and/or conservative management, summarizing outcomes, and defining risks. A systematic review was conducted of articles in all languages on outcomes following surgical and/or conservative management of idiopathic camptodactyly in children using MEDLINE (Medical Literature Analysis and Retrieval System Online), PubMed, EMBASE (Excerpta Medica database), AMED (Allied and Complementary Medicine), and CINAHL (Cumulative Index of Nursing and Allied Health Literature) (until January 2017). The primary outcome was posttreatment flexion contracture, and the secondary outcomes were indications for surgery, complications, and patient satisfaction. Database searching generated 16 final articles, with 7 case series and 9 retrospective cohort studies. There was a lack of consistency on the definition of camptodactyly and in outcome reporting. All 16 studies received a "Weak" global rating and demonstrated low-quality evidence, suggesting that treatment of camptodactyly with operative or nonoperative measures reduces the degree of flexion contracture in most patients (from pretreatment averages of 20°-85° to posttreatment averages of 5°-37°). There was general agreement that surgery should be reserved for contracture >30° or failure to respond to conservative management. Surgery generally led to more complications compared with conservative management. Only one study reported on functional limitations, and another reported on patient-reported outcomes. Current evidence of the effectiveness of camptodactyly treatment in addressing both joint-specific deformity and patient-perceived function and appearance is insufficient to guide patient care. Future research may consider the development of decision aids to guide patients and families through selecting management strategies and to promote shared decision making.
Topics: Child; Conservative Treatment; Contracture; Humans; Limb Deformities, Congenital; Retrospective Studies
PubMed: 30897950
DOI: 10.1177/1558944719834654 -
Journal of Orthopaedic Surgery (Hong... 2018The aim of this study was to analyze long-term results after limited fasciectomy for Dupuytren's contracture.
PURPOSE
The aim of this study was to analyze long-term results after limited fasciectomy for Dupuytren's contracture.
METHODS
The study included 34 patients (52 rays), with an average follow-up of 9.5 years (range: 7-13 years). Range of motion, functional status, recurrence, and complications were recorded.
RESULTS
Preoperative metacarpophalangeal joint (MCPJ) contracture (median: 35°, range: 0-90°) improved postoperatively to full extension in all but one patient, with no recurrence at the most recent follow-up. Preoperative proximal interphalangeal joint (PIPJ) contractures (median: 52°, range: 5-100°) were initially corrected, but recurred with time (median: 25°, range 0°-80°). Hand function was assessed using the Disabilities of the Arm, Shoulder and Hand questionnaire. Postoperative hand function improved (median: 0, range: 0-27), compared to preoperative function (median: 20, range: 0-51). Hand function worsened with time (at most recent follow-up: median: 3, range: 0-40), mainly due to PIPJ contracture recurrence, but function remained better than before surgery.
CONCLUSION
Limited fasciectomy is an effective treatment method for MCPJ, with full correction achievable in both the short and long term. Regarding the PIPJ, treatment outcomes seem to be multifactorial. Further clarification is required to distinguish between local recurrence and remaining contracture of the PIPJ.
Topics: Aged; Dupuytren Contracture; Fasciotomy; Female; Follow-Up Studies; Forecasting; Humans; Male; Middle Aged; Postoperative Period; Range of Motion, Articular; Recurrence; Treatment Outcome
PubMed: 29529955
DOI: 10.1177/2309499018762195 -
BMC Musculoskeletal Disorders Sep 2020Limb girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy featuring limb-girdle weakness, tendon contracture and cardiac... (Review)
Review
BACKGROUND
Limb girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy featuring limb-girdle weakness, tendon contracture and cardiac involvement. It is caused by the mutation of TOR1AIP1, which encodes nuclear membrane protein LAP1 (lamina-associated polypeptide 1) and comprises heterogeneous phenotypes. The present study reported a patient with a novel homozygous TOR1AIP1 mutation that presented with selective muscle weakness, which further expanded the phenotype of LGMD2Y- and TOR1AIP1-associated nuclear envelopathies.
CASE PRESENTATION
A 40-year-old male presented with Achilles tendon contracture and muscle weakness that bothered him from 8 years old. While the strength of his distal and proximal upper limbs was severely impaired, the function of his lower limbs was relatively spared. Muscle pathology showed dystrophic features, and electron microscopy showed ultrastructural abnormalities of disrupted muscle nuclei envelopes. Whole-exome sequencing showed a frameshift mutation in TOR1AIP1 (c.98dupC).
CONCLUSION
We reported a novel mild phenotype of LGMD2Y with relatively selective distal upper limb weakness and joint contracture and revealed the heterogeneity of LGDM2Y and the role of the LAP1 isoform by literature review.
Topics: Adult; Child; Contracture; Humans; Male; Muscle Weakness; Muscular Dystrophies, Limb-Girdle; Mutation; Phenotype; Tendons
PubMed: 32873274
DOI: 10.1186/s12891-020-03616-4