AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
ContractureDupuytren ContractureHip ContractureIschemic ContractureArthrogryposisMalignant HyperthermiaJoint CapsuleCaffeineImplant Capsular ContractureMuscle ContractionSplintsClostridium histolyticumAnuraFasciaHand Deformities, AcquiredElbow JointMyocardial ContractionCalciumRange of Motion, ArticularPotassiumBrachial Plexus NeuropathiesMusclesHalothaneRana pipiensBirth InjuriesProcaineTetracaineSuccinylcholineJoint DiseasesBreast ImplantationFinger JointGallopamilStrophanthidinCasts, SurgicalEquinus DeformityRigor MortisMuscle RigidityImmobilizationTime FactorsMembrane PotentialsMyocardiumKetotifenKnee JointLanthanumSodiumSarcoplasmic ReticulumPrenylamineDeltoid MuscleHeartMyofibrilsPotassium ChlorideHand InjuriesBreast ImplantsMeningomyelocele
Dupuytren'sFlexionPalmar fasciaTendon contractureCongenitalEtiologyJointsAbnormalPrevalenceDistal arthrogryposis typeTightensFingersCordsDiseasePerson'sPredispositionDupuytrenScarMutationsSyndromeMetacarpophalangealDifferential diagnosisTissueDefectOccurLociCharacteristicDeformitiesPatientsMolecularMuscleDiagnosisAutosomalRare geneticSyndromesHeterogeneityIdiopathicHandClinicalTreatmentConditionIncidenceDefectsCommon geneticFindingsSkin
Dupuytren's55
Flexion3
Palmar fascia2
  • Dupuytren disease (DD) is a fibrosing disorder that results in slowly progressive thickening and shorting of the palmar fascia and leads to debilitating digital contractures, particularly of the metacarpophalangeal (MCP) joints or the proximal interphalangeal (PIP) joints. (medscape.com)
  • The diagnosis is based on the presence of fibromatous nodule formations in the palmar fascia, which slowly (i.e. over several months or even years) progress to cords leading eventually to contractures of joints in fingers. (biomedcentral.com)
Tendon contracture4
  • Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. (medlineplus.gov)
  • Effect of infusion of 60 mg/kg oxytetracycline on forelimb flexor tendon contracture in calves. (omia.org)
  • Correction of tendon contracture in calves. (omia.org)
  • Prenatal tendon contracture in a herd of milking Shorthorns Canadian Journal of Comparative Medicine and Veterinary Science 16:399-404, 1952. (omia.org)
Congenital4
  • They were already found implicated in the pathogenesis of other syndromes, respectively the congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome, the Schaaf-Yang syndrome, and the early infantile epileptic encephalopathy-11 syndrome. (nih.gov)
  • Congenital unidactylism along with contracture of flexor tendon in a calf Indian Veterinary Journal 74:445, 1997. (omia.org)
  • Congenital muscular dystrophy (CMD) refers to a group of genetic muscle diseases that become apparent within the first two years after birth. (mdaquest.org)
  • Genetic disorder with congenital deafness and progressive visual loss. (mhmedical.com)
Etiology2
  • The etiology is unknown, and the genetic component is complex, making clear distinctions between the various subtypes difficult. (medscape.com)
  • Juvenile idiopathic arthritis is the most common chronic rheumatic disease in childhood and has unknown etiology. (biomedcentral.com)
Joints5
  • Dupuytren contracture belongs to the group of fibromatoses that include plantar fibromatosis (Ledderhose disease), penile fibromatosis (Peyronie disease), and fibromatosis of the dorsal PIP joints (Garrod nodes or knuckle pads). (medscape.com)
  • However, researchers speculate that contractures may be related to problems with muscle contraction that limit the movement of joints before birth. (medlineplus.gov)
  • The contracture spreads to the joints of the finger, which can become permanently immobilized. (health-local.com)
  • In general, CMD is characterized by decreased muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormal locking of joints (contractures), spinal rigidity, and delays in reaching motor milestones such as rolling over, sitting up, or standing without assistance. (mdaquest.org)
  • The syndrome is usually evident at birth, with contractures of the interphalangeal joints, hypotonia and poor suck as characteristic early features. (biomedcentral.com)
Abnormal6
  • Scar contractures are often associated with abnormal scar types because they deviate from the common scars that only pose cosmetic concerns for the patient. (biodermis.com)
  • Scar contractures are a common characteristic of abnormal scar types like keloids and hypertrophic scar formations. (biodermis.com)
  • Many times, contractures associated with abnormal scar types are marked by an exasperated healing response, which can be mitigated by observing proper wound care. (biodermis.com)
  • While proper wound care is important, there is no guarantee that it will prevent you from attaining an abnormal scar with contracture. (biodermis.com)
  • The following section deals with genetic Mutations in GRIN1 impair this process and lead to abnormal functioning of NMDA receptors, resulting in epilepsy and associated developmental differences. (rsv-nellingen.de)
  • A contracture is an abnormal pulling forward of the fingers of the hand. (crortho.com)
Prevalence3
  • The exact incidence and prevalence of CMD is unknown, however, it is estimated that muscular dystrophies in general affect approximately 250,000 people in the United States. (mdaquest.org)
  • Though this condition is thought to be more common in Turkey and the Middle East, its prevalence is unknown [ 2 ]. (biomedcentral.com)
  • Although they're not serious physiological events, their prevalence is extremely high: For example, contractures in soccer players account for 30% of all injuries, which is equivalent to 300 days lost per team in a season. (muysalud.com)
Distal arthrogryposis type2
Tightens1
  • Residual phase - During the residual phase, the disease continues to spread into the fingers and the cord tightens, creating a contracture. (medscape.com)
Fingers1
  • Being that our fingers are slightly bent when our hand is relaxed, many people put up with the contracture for a long time. (health-local.com)
Cords1
Disease11
  • According to several research studies, Celiac disease and Type 1 diabetes share common genetic origins and immune mediated tissue damage. (glutenfreeforgood.com)
  • Dupruytren's contracture is a disease that typically affects the connective tissue in the palm of the hand, although it can also impact the feet. (glutenfreeforgood.com)
  • Dupuytren (DOOP-uh-tren) disease-named after a 19th-century physician-is a chronic, oftentimes debilitating genetic illness that targets a thin layer of skin in the palm of the hand, called the fascia. (korshjafarniamd.com)
  • The cause of Peyronie's disease is unknown, but it often begins without an injury to the penis. (dailymoneyout.com)
  • In some cases, Peyronie's disease may be genetic . (dailymoneyout.com)
  • Many known CMD subtypes can be grouped by the type of genetic defects that cause disease. (mdaquest.org)
  • For more information about the signs and symptoms of CMD, as well an explanation of the genetic underpinnings and subtype classifications of the disease, an in-depth overview can be found here . (mdaquest.org)
  • Alzheimer's disease is the result of lifestyle, genetic, and environmental factors that damage the brain tissues over time. (healthprep.com)
  • Although the cause of Peyronie's disease (PD) is still unknown almost 375 years after Peyronie first wrote about the condition, it is now generally agreed there are multi-factorial issues that contribute to this problem. (peyronies-disease-help.com)
  • While the cause is unknown, this does not mean there is no cause and it does not mean there is no effective Peyronie's disease treatment even though the medical profession does not acknowledge the ability of the body to repair this problem 50% of the time. (peyronies-disease-help.com)
  • Whether this study's findings will extend to other patients with FIO is uncertain, Dr. Drake cautioned, particularly because the subjects were brothers, "and thus may have had an unrecognized genetic basis for their disease which might be absent in others with FIO. (medscape.com)
Person's1
  • In extreme cases, scar contractures can restrict a person's range of motion depending on where the scar is located. (biodermis.com)
Predisposition4
  • It does not appear to be inherited, although some research suggests there may be a predisposition to MSA due to the individual's genetic make-up. (parkinson.ca)
  • They include repetitive movements, genetic predisposition, hormonal changes, wrist injuries and other medical conditions such as diabetes and arthritis. (drbrutus.com)
  • Genetic predisposition is a possible cause of PD, because it is fairly common for men with PD to also have health problems from a particular list of conditions. (peyronies-disease-help.com)
  • 11,12) This gives support to the theory that men with genetic predisposition to these conditions respond to mechanical injury and micro-hemorrhage of the tunica albuginea with an unusually excessive wound healing reaction. (peyronies-disease-help.com)
Dupuytren2
Scar8
  • The contracture is like extra scar tissue just under the skin. (health-local.com)
  • A scar contracture occurs when the skin pulls tightly together during the final stage of wound healing when a scar begins to form. (biodermis.com)
  • In cases where a person is severely burned or undergoes a dramatic surgery, a scar contracture is likely to follow. (biodermis.com)
  • In this article, we will take a closer look at scar contractures and learn what we can do to prevent their occurrence or reduce their tightness. (biodermis.com)
  • Scar contractures tend to occur as a result of a major surgery, wound, or burn. (biodermis.com)
  • Because the tissue of a scar contracture is tighter than healthy skin, it can cause discomfort and pain for the patient. (biodermis.com)
  • Keloids and hypertrophic scars may also be accompanied by scar contracture, making these scar types feel tight and itchy. (biodermis.com)
  • 1, 3-15) Thus, men with these particular conditions could possess a genetic background that causes excess scar development and predisposes to development of Peyronie's plaques. (peyronies-disease-help.com)
Mutations3
  • At least six mutations in the FAM111B gene have been identified in people with hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP). (medlineplus.gov)
  • Many mutations associated with MH have been identified in RYR1, the gene coding for RyR1 in humans, and more are discovered as additional patients are identified and genetic mapping becomes more sophisticated. (medscape.com)
  • CMD is caused by genetic mutations that affect proteins necessary for the proper structure and function of muscles and sometimes for the eyes and/or brain. (mdaquest.org)
Syndrome4
  • The incidence rate of Holt Oram syndrome (HOS) is unknown. (medscape.com)
  • Carpal Tunnel Syndrome is a common neuropathy condition, and yet it's precise causes are unknown. (drbrutus.com)
  • Genetic syndrome sometimes referred to as DIDMOAD, an acronym that stands for D iabetes I nsipidus, D iabetes M ellitus, O ptic A trophy, and D eafness. (mhmedical.com)
  • The genetic background of our patient with silicone breast implants might have predisposed her to three rare and difficult to diagnose syndromes/diseases: macrophage activation syndrome/hemophagocytic lymphohistiocytosis, autoimmune/inflammatory syndrome induced by adjuvants, and intravascular large B-cell lymphoma. (biomedcentral.com)
Metacarpophalangeal3
  • Metacarpophalangeal joint and proximal interphalangeal joint contractures are also present. (medscape.com)
  • Note the metacarpophalangeal joint contracture. (medscape.com)
  • The earliest sign of a contracture is a triangular "puckering" of the skin of the palm as it passes over the flexor tendon just before the flexor crease of the finger, at the metacarpophalangeal (MCP) joint. (wikipedia.org)
Differential diagnosis1
  • A multigene panel that includes GRIN1 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (rsv-nellingen.de)
Tissue1
  • The skin tissue of contracture may appear warped or constricted because the skin has pulled itself together tightly. (biodermis.com)
Defect3
  • Here, a whole exome sequencing approach in individuals with CS/CISS-like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses. (nih.gov)
  • By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at θ=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers. (bmj.com)
  • Additional forms of CMD exist that are very rare or have not yet been linked to a specific genetic defect. (mdaquest.org)
Occur1
  • Some of the diseases of the muscular system are anecdotal and easily solvable (such as contractures), but others occur congenitally and can lead to the death of the patient in a few years. (muysalud.com)
Loci2
  • A few genetic loci besides RYR1 have also been associated with MH (eg, CACNA1S and STAC3 ). (medscape.com)
  • Map locations, genetic distances, and allele frequencies of the marker loci were obtained from the Genome Database and from the reports of Nelson et al 7 and Dib et al . (bmj.com)
Characteristic1
Deformities1
  • All fractures healed, and contractures improved with physiotherapy, though deformities persisted. (medscape.com)
Patients1
  • Clinically suspected patients evaluated in a South Indian hospital between 2014-2019 underwent genetic testing either by standard diagnostic methods of gene panel testing or a two-step method of hotspot screening followed by whole-exome sequencing. (bvsalud.org)
Molecular4
  • 1 This high frequency, as well as clinical, genetic, and recent molecular findings, indicate that there are numerous X linked genes which control the development of the central nervous system as well as its cognitive and adaptive functioning. (bmj.com)
  • There are still many unknown aspects of MIRI's key molecular mechanisms that merit further study through both in vivo and in vitro MIRI models to discover novel functional molecular targets and identify associated cardioprotective mechanisms, which is important for improving the current treatment of AMI and MIRI. (hindawi.com)
  • Identification of a heterozygous pathogenic variant in COL2A1 or FN1 by molecular genetic testing can confirm the diagnosis if radiographic features are inconclusive. (beds.ac.uk)
  • Molecular genetic testing for SHFYNG should therefore be considered in adults with the suspected diagnosis of PWS, if testing for PWS has been negative. (biomedcentral.com)
Muscle2
  • If genetic testing does not confirm the diagnosis, then muscle biopsy can be done. (msdmanuals.com)
  • Myotonia Atrophica / Myotonic dystrophy is characterized by progressive multisystem genetic impairment in relaxation of muscles after voluntary contraction due to repetitive depolarization of the muscle membrane disorders muscle wasting and weakness. (rxharun.com)
Diagnosis3
  • Genetic analysis of these genes should be considered for those cases with a suspected CS/CISS during neonatal period who were tested as mutation negative in the known CS/CISS genes, because an expedited and corrected diagnosis can improve patient management and can provide a specific clinical follow-up. (nih.gov)
  • Consensus recommendations to help accurate diagnosis of CMD were published in 2014, though options for genetic testing have expanded in recent years. (mdaquest.org)
  • In December of 2015, my son Bryson was diagnosed with GRIN1, a rare genetic condition.A blog post I wrote about the diagnosis has become the most popular piece on my previous blog, with more than 5,000 views. (rsv-nellingen.de)
Autosomal1
  • July 15, 2011), a database of human genes and genetic disorders, and syndromic polydactyly is commonly an autosomal recessively inherited trait. (symptoma.com)
Rare genetic1
  • There has been much debate as to the role of rare genetic variation on complex traits ( 2 - 4 ) and how rare variant studies complement GWASs ( 5 ). (frontiersin.org)
Syndromes1
  • A cardiomelic developmental field has also been postulated to relate the genetic heterogeneity of HOS (and other similar syndromes) to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor beta families. (medscape.com)
Heterogeneity1
  • 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. (findzebra.com)
Idiopathic1
  • [ 2 ] Although many cases appear to be idiopathic, both a genetic component and ocupational factors have been reported. (medscape.com)
Hand3
  • Without treatment, the contracture can become so severe that you cannot straighten your finger, and eventually you may not be able to use your hand effectively. (health-local.com)
  • Another example of failure of the hand to separate is seen in contractures of the hand. (crortho.com)
  • Contractures of the hand may also develop as a result of a problem with the cells in the womb. (crortho.com)
Clinical3
  • C: Sufferers in this research with clinical crises that resulted in high MH Ranks (five and six) designed higher halothane and caffeine contractures than sufferers with reduce MH Ranks (3 and 4). (esiservizi.com)
  • In this study, we investigated the phenotypes of 7 adult individuals with molecularly confirmed SHFYNG (individuals #1-7, who carry a truncating variant on the paternal MAGEL2 allele) and one individual with the clinical phenotype of SHFYNG and a variant of unknown significance in MAGEL2 (individual #8). (biomedcentral.com)
  • Dr. Chiou conducts clinical trials investigating new therapies for inflammatory and genetic skin diseases, along with evaluating artificial intelligence-driven decision support approaches for skin cancer and melanoma detection. (stanford.edu)
Treatment1
  • Treatment of Emery-Dreifuss dystrophy involves therapy to prevent contractures. (msdmanuals.com)
Condition2
  • Researchers are looking for additional genetic changes that may be responsible for this condition. (medlineplus.gov)
  • Since it is a condition that is generally uncommon in Caucasians, genetic workup should be considered in a Caucasian child with polydactyly. (symptoma.com)
Incidence2
  • The overall incidence is unknown. (msdmanuals.com)
  • The exact incidence remains unknown as only few cases have been reported in the literature. (mhmedical.com)
Defects1
  • As the genetic defects underlying CMD subtypes are identified, the understanding and classification of these diseases is rapidly changing. (mdaquest.org)
Common genetic1
  • Genome-wide association studies have been designed primarily to capture common variation and so far some 10,000 common genetic variants have been robustly associated with a wide range of complex diseases ( 1 ). (frontiersin.org)
Findings2
  • Although the exact mode of transmission is unknown, recent findings suggest a role for some aquatic insects in the transmission cycle. (who.int)
  • Progressive pseudorheumatoid dysplasia was suspected, and genetic testing for WNT1-inducible signaling pathway protein 1, 2, and 3 was requested with these findings. (biomedcentral.com)
Skin1
  • If the wound that caused the contracture was deep enough, internal organs may become burdened by the tightening of the skin. (biodermis.com)