Musculoskeletal Abnormalities
Musculoskeletal Diseases
Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. (1/101)
Family ZMK is a large Irish kindred that segregates progressive sensorineural hearing loss and retinitis pigmentosa. The symptoms in the family are almost identical to those observed in Usher syndrome type III. Unlike that in Usher syndrome type III, the inheritance pattern in this family is compatible with dominant, X-linked dominant, or maternal inheritance. Prior linkage studies had resulted in exclusion of most candidate loci and >90% of the genome. A tentative location for a causative nuclear gene had been established on 9q; however, it is notable that no markers were found at zero recombination with respect to the disease gene. The marked variability in symptoms, together with the observation of subclinical muscle abnormalities in a single muscle biopsy, stimulated sequencing of the entire mtDNA in affected and unaffected individuals. This revealed a number of previously reported polymorphisms and/or silent substitutions. However, a C-->A transversion at position 12258 in the gene encoding the second mitochondrial serine tRNA, MTTS2, was heteroplasmic and was found in family members only. This sequence change was not present in 270 normal individuals from the same ethnic background. The consensus C at this position is highly conserved and is present in species as divergent from Homo sapiens as vulture and platypus. The mutation probably disrupts the amino acid-acceptor stem of the tRNA molecule, affecting aminoacylation of the tRNA and thereby reducing the efficiency and accuracy of mitochondrial translation. In summary, the data presented provide substantial evidence that the C12258A mtDNA mutation is causative of the disease phenotype in family ZMK. (+info)Extended field of view sonography in musculoskeletal imaging. (2/101)
The usage patterns and benefits of extended field of view sonography were analyzed prospectively in 100 consecutive musculoskeletal ultrasonographic examinations. Extended field of view sonography was used in 23 of 58 abnormal cases (10 of 41 shoulders, five of eight other joints, seven of seven extra-articular extremities, one of two interventional procedures) and two of 42 normal cases. Of 23 abnormal cases using extended field of view sonography (12 of 46 tendon tears and 11 of 12 fluid collections or masses), this modality helped in measuring abnormalities in 13, displaying abnormalities in 19, showing spatial relationships in 17, communicating findings in 13, and making diagnoses in 0. Extended field of view is a useful technique for musculoskeletal ultrasonography. The primary benefits are measuring and displaying abnormalities (most often fluid collections or masses and extra-articular extremity abnormalities). (+info)Orthopaedic management in four cases of mucolipidosis type III. (3/101)
Four patients with mucolipidosis type III, three of them brothers, were seen initially in the first two decades of life. Their main symptoms were carpal tunnel syndrome, trigger fingers and generalized joint stiffness. Radiographs showed spinal deformities and hip dysplasia, but these were not causing pain. Carpal tunnel syndrome was treated surgically but joint stiffness and hip and knee contractures were managed by physiotherapy. Up to the age of 24 none of these patients has had pelvic osteotomy for hip dysplasia; this operation, not yet reported in mucolipidosis type III, may eventually be necessary. (+info)Mammalian skeletogenesis and extracellular matrix: what can we learn from knockout mice? (4/101)
Formation of the vertebrate skeleton and the proper functions of bony and cartilaginous elements are determined by extracellular, cell surface and intracellular molecules. Genetic and biochemical analyses of human heritable skeletal disorders as well as the generation of knockout mice provide useful tools to identify the key players of mammalian skeletogenesis. This review summarises our recent work with transgenic animals carrying ablated genes for cartilage extracellular matrix proteins. Some of these mice exhibit a lethal phenotype associated with severe skeletal defects (type II collagen-null, perlecan-null), whereas others show mild (type IX collagen-null) or no skeletal abnormalities (matrilin-1-null, fibromodulin-null, tenascin-C-null). The appropriate human genetic disorders are discussed and contrasted with the knockout mice phenotypes. (+info)The pleiotropic effects of fibroblast growth factor receptors in mammalian development. (5/101)
In recent years the study of fibroblast growth factor receptors (FGFRs) in normal development and human genetic disorders has increased our understanding of some complex cellular processes. At least fifteen genetic disorders result from mutations within FGFR genes including skeletal dysplasias such as Apert syndrome and achondroplasia. In vitro experiments and the generation of animal models indicate that these mutations result in activation of the receptors and that FGFRs act as negative regulators of bone growth. FGFRs also play a role in wound healing and cancer. In this article, we review the expression of FGFRs in human development, the phenotypes resulting from FGFR mutations, and recent data identifying pathways downstream of the activated receptors. (+info)Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. (6/101)
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with SDS was terminated at approximately 50% completion, with the identification of chromosome 7 markers that showed linkage with the disease. Finer mapping revealed significant linkage across a broad interval that included the centromere. The maximum two-point LOD score was 8.7, with D7S473, at a recombination fraction of 0. The maximum multipoint LOD score was 10, in the interval between D7S499 and D7S482 (5.4 cM on the female map and 0 cM on the male map), a region delimited by recombinant events detected in affected children. Evidence from all 15 of the multiplex families analyzed provided support for the linkage, consistent with a single locus for SDS. However, the presence of several different mutations is suggested by the heterogeneity of disease-associated haplotypes in the candidate region. (+info)Screening for foetal malformations: performance of routine ultrasonography in the population of the Swiss Canton of Vaud. (7/101)
OBJECTIVE: To determine the sensitivity of ultrasonography in screening for foetal malformations in the pregnant women of the Swiss Canton of Vaud. STUDY DESIGN: Retrospective study over a period of five years. METHOD: We focused our study on 512 major or minor clinically relevant malformations detectable by ultrasonography. We analysed the global sensitivity of the screening and compared the performance of the tertiary centre with that of practitioners working in private practice or regional hospitals. RESULTS: Among the 512 malformations, 181 (35%) involved the renal and urinary tract system, 137 (27%) the heart, 71 (14%) the central nervous system, 50 (10%) the digestive system, 42 (8%) the face and 31 (6%) the limbs. Global sensitivity was 54.5%. The lowest detection rate was observed for cardiac anomalies, with only 23% correct diagnoses. The tertiary centre achieved a 75% detection rate in its outpatient clinic and 83% in referred patients. Outside the referral centre, the diagnostic rate attained 47%. CONCLUSIONS: Routine foetal examination by ultrasonography in a low-risk population can detect foetal structural abnormalities. Apart from the diagnosis of cardiac abnormalities, the results in the Canton of Vaud are satisfactory and justify routine screening for malformations in a low-risk population. A prerequisite is continuing improvement in the skills of ultrasonographers through medical education. (+info)Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome. (8/101)
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. Patients with SDS have varying degrees of marrow aplasia, which can be severe or progress to leukemic transformation. While allogeneic hematopoietic stem cell transplantation (HSCT) can be curative for the hematologic disturbances of SDS, a recent review of the literature reveals few survivors. Poor outcome with HSCT is often related to excessive cardiac and other organ toxicity from transplant preparative therapy. We describe two young children with SDS who developed aplastic anemia and subsequently underwent successful allografting using a non-cardiotoxic conditioning regimen. Case 1 received marrow from an HLA-identical sibling while case 2 received partially matched umbilical cord blood from an unrelated donor. Both patients are presently alive and well with sustained donor engraftment and excellent hematopoietic function at 36 and 22 months post-HSCT. (+info)Musculoskeletal abnormalities refer to structural and functional disorders that affect the musculoskeletal system, which includes the bones, muscles, cartilages, tendons, ligaments, joints, and other related tissues. These abnormalities can result from genetic factors, trauma, overuse, degenerative processes, infections, or tumors. They may cause pain, stiffness, limited mobility, deformity, weakness, and susceptibility to injuries. Examples of musculoskeletal abnormalities include osteoarthritis, rheumatoid arthritis, scoliosis, kyphosis, lordosis, fractures, dislocations, tendinitis, bursitis, myopathies, and various congenital conditions.
Musculoskeletal diseases are a group of medical conditions that affect the bones, joints, muscles, tendons, ligaments, and nerves. These diseases can cause pain, stiffness, limited mobility, and decreased function in the affected areas of the body. They include a wide range of conditions such as:
1. Osteoarthritis: A degenerative joint disease characterized by the breakdown of cartilage in joints, leading to pain, stiffness, and loss of mobility.
2. Rheumatoid arthritis: An autoimmune disorder that causes inflammation in the lining of the joints, resulting in swelling, pain, and bone erosion.
3. Gout: A form of arthritis caused by the buildup of uric acid crystals in the joints, leading to severe pain, redness, and swelling.
4. Osteoporosis: A condition characterized by weakened bones that are more susceptible to fractures due to decreased bone density.
5. Fibromyalgia: A disorder that causes widespread muscle pain, fatigue, and tenderness in specific areas of the body.
6. Spinal disorders: Conditions affecting the spine, such as herniated discs, spinal stenosis, or degenerative disc disease, which can cause back pain, numbness, tingling, or weakness.
7. Soft tissue injuries: Damage to muscles, tendons, and ligaments, often caused by overuse, strain, or trauma.
8. Infections: Bone and joint infections (septic arthritis or osteomyelitis) can cause pain, swelling, and fever.
9. Tumors: Benign or malignant growths in bones, muscles, or soft tissues can lead to pain, swelling, and limited mobility.
10. Genetic disorders: Certain genetic conditions, such as Marfan syndrome or Ehlers-Danlos syndrome, can affect the musculoskeletal system and cause various symptoms.
Treatment for musculoskeletal diseases varies depending on the specific condition but may include medications, physical therapy, exercise, surgery, or a combination of these approaches.
The Musculoskeletal System is a complex system composed of the bones, joints, muscles, tendons, ligaments, and associated tissues that work together to provide form, support, stability, and movement to the body. It serves various functions including:
1. Protection: The musculoskeletal system protects vital organs by encasing them in bones, such as the ribcage protecting the lungs and heart, and the skull protecting the brain.
2. Support and Movement: Muscles and bones work together to enable movement and maintain posture. Muscles contract to pull on bones, causing joint motion and producing movements like walking, running, or jumping.
3. Storage: Bones act as a reservoir for essential minerals like calcium and phosphorus, which can be released into the bloodstream when needed.
4. Hematopoiesis: Within the bone marrow, hematopoietic cells produce blood cells, including red blood cells, white blood cells, and platelets.
5. Endocrine Function: Bone tissue is also an endocrine organ, producing hormones like osteocalcin and FGF23 that regulate various physiological processes, such as energy metabolism and mineral homeostasis.
Dysfunctions or injuries in the musculoskeletal system can result in conditions like arthritis, fractures, muscle strains, tendonitis, and other painful or debilitating ailments that impact an individual's quality of life and mobility.
Musculoskeletal abnormality
Craniofacial abnormality
Lipomeningomyelocele
Sly syndrome
Proteus syndrome
Beck-Fahrner syndrome
XXXXY syndrome
Hip dysplasia
ZTTK syndrome
Prune belly syndrome
Tuberculosis radiology
Pirtobrutinib
Fraser syndrome
HIDEA syndrome
De Barsy syndrome
Phakomatosis
Karak syndrome
Acrorenal mandibular syndrome
Facioscapulohumeral muscular dystrophy
Twelfth rib syndrome
Dandy-Walker malformation
Gait abnormality
Trismus pseudocamptodactyly syndrome
Oligohydramnios
Pentasomy X
Moxifloxacin
Veterinary orthotics
National Center for Spinal Disorders
Incontinentia pigmenti achromians
Freeman-Sheldon syndrome
Spider lamb syndrome
Musculoskeletal abnormality - Wikipedia
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Chromosomal abnormalities1
- Heart defects are common… chromosomal abnormalities like Down Syndrome, spina bifida, gastro-intestinal abnormalities, musculo-skeletal, dislocated hips. (billmuehlenberg.com)
Deformities2
- correction of all musculoskeletal deformities producing gait abnormalities. (physio-pedia.com)
- Congenital structural abnormalities and deformities of the musculoskeletal system. (bvsalud.org)
Skeletal5
- An abnormality of the function of the skeletal system. (mcw.edu)
- Skeletal abnormalities, such as short stature and scoliosis are seen in the LQT7 type (Andersen syndrome), and congenital heart diseases, cognitive and behavioral problems, musculoskeletal diseases, and immune dysfunction may be seen in those with LQT8 type (Timothy syndrome). (medscape.com)
- Skeletal scintigraphy is generally recognized as the gold standard in the evaluation of suspected stress injuries because of its high sensitivity for stress fracture detection and its ability to show abnormalities in bone metabolism well before they are manifested radiographically ( 1 ). (snmjournals.org)
- These phenotypes are intrinsic to ECSIT function in skeletal progenitors, as little skeletal abnormalities were observed in mice lacking Ecsit in committed osteoprogenitors or mature osteoblasts. (nih.gov)
- Collectively, these findings identify mitochondrial oxidative phosphorylation as the prominent energy-driving force for osteogenesis of skeletal progenitors, governing musculoskeletal integrity. (nih.gov)
Arthritis3
- A range of other musculoskeletal anomalies were observed, with inflammatory arthritis (7%) and scoliosis (4.8%) occurring most frequently after pes planus. (bmj.com)
- Director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), encourages researchers she supports to think outside the box. (medlineplus.gov)
- The name "NIAMS" clarifies the scope of the institute, which is very broad as it includes arthritis, the musculoskeletal system, and skin. (medlineplus.gov)
Disorders4
- The combination of ligamentous laxity and low muscle tone contributes to increased risk of a number of musculoskeletal disorders and a delay in acquisition of motor milestones. (bmj.com)
- Children with Down syndrome are at increased risk of a number of musculoskeletal disorders. (bmj.com)
- This, combined with hypotonia, also a well-described feature of DS, has significant and widespread functional impact, and contributes to increased risk of a number of musculoskeletal disorders, a delay in acquisition of motor milestones and lower levels of physical activity in children with DS. (bmj.com)
- Pain is the most common symptom of most musculoskeletal disorders. (merckmanuals.com)
Gait1
- Thus addressing multiple anatomical levels from which gait abnormalities stem. (physio-pedia.com)
Diseases2
- Even diseases that we think are caused by a particular infection, abnormalities, or variations of a gene are complex. (medlineplus.gov)
- What would you like people to know about arthritic, skin, and musculoskeletal diseases? (medlineplus.gov)
Anomalies3
- Rubinstein-Taybi syndrome (RTS) is an autosomal dominant disorder with multiple congenital anomalies that is characterized by distinctive facial appearance, growth, and mental retardation, and musculoskeletal (MSK) abnormalities. (researchcommons.org)
- The primary aim of this study was to describe musculoskeletal anomalies reported in a national cohort of children with DS. (bmj.com)
- Les images normales, les principales applications en pratique courante et les anomalies rencontrées seront décrites sur des chevaux cliniquement sains et des cas cliniques. (ivis.org)
Birth Defects1
- We will continue to monitor this developing drug safety issue involving Gilenya birth defects, specifically the increased risk of major congenital malformations, including congenital heart disease such as atrial septal defect, renal / kidney abnormalities, and musculoskeletal abnormalities. (drug-injury.com)
Defects1
- Fingolimod is associated with an increased risk of major congenital malformations including cardiac, renal, and musculoskeletal defects, when used in pregnancy. (drug-injury.com)
Renal2
- When used during pregnancy, GILENYA (fingolimod) has been associated with an increased risk of major congenital malformations, including congenital heart disease such as atrial septal defect, and renal and musculoskeletal abnormalities. (drug-injury.com)
- And long term problems also abound: "The sorts of things that are picked up over a year of age are internal abnormalities, renal abnormalities, abnormalities of the bladder, for example. (billmuehlenberg.com)
Asymptomatic9
- Most patients with anomalous right subclavian artery are asymptomatic, and the abnormality is discovered incidentally at esophagography or at catheterization. (musculoskeletalkey.com)
- This study was undertaken to evaluate our hypothesis that most asymptomatic lower extremity uptake abnormalities are of no clinical consequence and to assess whether these findings should affect patient care. (snmjournals.org)
- One hundred consecutive young athletes referred for bone scintigraphy by a sports medicine clinic because of low back pain were evaluated for the presence of asymptomatic bone scan abnormalities in the lower extremities. (snmjournals.org)
- Asymptomatic lower extremity abnormalities were present in 34% of patients. (snmjournals.org)
- This study shows that asymptomatic bone scintigraphic abnormalities of the feet, as well as diffuse abnormalities of the tibia, are common in young athletes. (snmjournals.org)
- Focal abnormalities of the femur or tibia are not commonly seen in asymptomatic young athletes. (snmjournals.org)
- There is no universal agreement about the significance of these asymptomatic abnormalities. (snmjournals.org)
- Other authors believe that asymptomatic uptake abnormalities are indicative of bone strain ( 7 ) and do not necessarily warrant treatment ( 8 ). (snmjournals.org)
- The purpose of this study is to assess the clinical significance of asymptomatic lower extremity uptake abnormalities in young athletes. (snmjournals.org)
Observational study1
- Conclusions: In this observational study, pGALS identifies MSK abnormalities in children with MPS. (northumbria.ac.uk)
System2
- A musculoskeletal abnormality is a disorder of the musculoskeletal system present at birth. (wikipedia.org)
- Introduction to the Biology of the Musculoskeletal System The musculoskeletal system provides form, stability, and movement to the human body. (merckmanuals.com)
Assessment4
- Children with DS, aged 0-21 years, were invited to attend a musculoskeletal assessment clinic conducted by a paediatric physician. (bmj.com)
- An annual musculoskeletal assessment for all children with DS could potentially enable early detection of problems, allowing for timely multidisciplinary team intervention and better clinical outcomes. (bmj.com)
- Musculoskeletal assessment should be part of the normal annual health surveillance programme for all children with Down syndrome. (bmj.com)
- All patients with gout and controls underwent US assessment of several US abnormalities in 26 joints, six bursae, eight tendons, 20 tendon compartments, four ligaments, and 18 articular cartilages by experts in US blinded to the patients' group. (bmj.com)
Limbs1
- Objective The primary objective of this prospective case-control study was to assess the diagnostic value of several intra-articular and periarticular ultrasound (US)-detected abnormalities in the upper and lower limbs in gout. (bmj.com)
Syndrome6
- Rubinstein-Taybi Syndrome: Musculoskeletal Abnormality and Its Treatme" by Tzu-Hsuan Chien, Li-Pin Tsai et al. (researchcommons.org)
- It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
- Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
- Aarskog Syndrome is a rare disease that is characterized by genetic abnormalities. (home-remedies-for-you.com)
- Background Musculoskeletal complications of Down syndrome (DS) are common but infrequently reported. (bmj.com)
- Physical examination findings in Bloom syndrome (congenital telangiectatic erythema) vary and involve stunted growth, cutaneous manifestations, ocular manifestations, musculoskeletal manifestations, fertility concerns, immunologic manifestations, and a predisposition to malignancies, among others. (medscape.com)
Genetic1
- These genetic abnormalities cause the physical features and the mental capacities of a person to be severely distorted. (home-remedies-for-you.com)
Malformations1
- Son pronostic dépend essentiellement des autres malformations congénitales cardiaques associées, des arythmies et des troubles de la conduction, ainsi que de la fonction systolique du ventricule droit en position systémique. (bvsalud.org)
Patients2
- There were abnormalities of the feet in 30 patients (focal uptake in 26 patients, diffuse uptake in 10 patients), the tibia in 13 patients (2 focal uptake, 11 diffuse uptake), and the femur in 2 patients (both with diffuse uptake). (snmjournals.org)
- Patients with gout and controls with US abnormalities were asked to undergo US-guided aspiration for microscopic identification of MSU crystals. (bmj.com)
Brain1
- Tremors in general are often the result of abnormalities in the brain, particularly in the cerebellum. (dpca.org)
Ultrasound2
- Ultrasound-detected musculoskeletal urate crystal deposition: which joints and what findings should be assessed for diagnosing gout? (bmj.com)
- Tests which show abnormalities of these organs include CT scan, ultrasound, and MRI. (affordablerx.com)
Facial1
- There are various facial abnormalities. (home-remedies-for-you.com)
Findings1
- Relevant musculoskeletal history and clinical findings were documented. (bmj.com)
Scan1
- None of the regions of scan abnormality became symptomatic on follow-up evaluation. (snmjournals.org)
Conclusion1
- Conclusion Children with DS are at increased risk of a number of potentially debilitating musculoskeletal problems. (bmj.com)
Nervous1
- The nervous or musculoskeletal systems are affected. (dpca.org)
Pain2
- Pain in this area may be Musculoskeletal, such as a stretched mucsle or a pinched nerve. (affordablerx.com)
- Pain coming from organs inside the abdomen, such as spleen or pancreas, is not musculoskeletal. (affordablerx.com)
Lower1
- Some have suggested that all otherwise unexplained lower extremity uptake abnormalities in physically active individuals represent stress fractures ( 2 , 3 ). (snmjournals.org)
Children1
- We aimed to identify MSK abnormalities in children with MPS performing pGALS.Methods: Videos of children with a spectrum of MPS performing pGALS were analysed. (northumbria.ac.uk)
Early1
- Imaging early abnormalities: A surrogate marker? (ox.ac.uk)
Specific1
- There is no specific histologic abnormality. (merckmanuals.com)
Date1
- Indeed, many of the abnormalities do not come to light until a later date. (billmuehlenberg.com)
Potential1
- Despite the potential IT issue and the workplace circumstances that existed at the time, in the Commissioner's view, this abnormality should have been identified and reported on. (hdc.org.nz)