Limb-girdle muscular dystrophiesMutationsCongenital muscular dyEDMDMyopathyFamilial Partial LipodystrophyAutosomal recessiveFHL1DiagnosisSkeletal musclesBeckerDisordersOnsetCalfContracturesMuscleCommonPeopleConditionsResultProgressiveDuchenneFacioscapulohumeralMyotonicLimb girdle muCongenitalFSHDPrevalenceRecessivePathogenesisGenetic causePrognosisClinicallyJoint contracturesGenesClinicalInheritanceAltmetricMusclesSpineTriadSymptomsMolecularStudiesArticleManagement
Limb-girdle muscular dystrophies5
- Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. (biomedcentral.com)
- Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders inherited as an autosomal recessive or dominant pattern. (biomedcentral.com)
- No definitive treatments for the limb-girdle muscular dystrophies exist. (beds.ac.uk)
- Diagnosing the various disorders within the "limb girdle muscular dystrophies" (LGMD) requires information from the clinical presentation and the results of various investigations, such as serum creatine kinase (CK), muscle biopsy and genetic testing ( fig 1 ). (bmj.com)
- Diagnosing limb girdle muscular dystrophies (LGMD). (bmj.com)
Mutations9
- Mutations in several genes, including EMD , FHL1 , and LMNA , can cause Emery-Dreifuss muscular dystrophy. (medlineplus.gov)
- Mutations in the EMD , FHL1 , and LMNA genes that cause Emery-Dreifuss muscular dystrophy prevent the production of their respective proteins or lead to abnormal or nonfunctional versions of these proteins. (medlineplus.gov)
- Mutations in the one of several genes cause the various types of Emery-Dreifuss muscular dystrophy. (wikipedia.org)
- medical citation needed] Mutations of the genes SUN1 and SUN2 have each been shown to cause EDMD in single cases. (wikipedia.org)
- Other diseases that have early or congenital contractures are diseases involving collagen mutations, including Ullrich congenital muscular dystrophy and Bethlem myopathy. (wikipedia.org)
- These are termed laminopathies, with mutations in emerin causing Emery-Dreifuss muscular dystrophy. (portlandpress.com)
- Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, including cardiomyopathy, recessive congenital myopathies and limb-girdle muscular dystrophy (LGMD) type10. (biomedcentral.com)
- FHL1 mutations cause Emery-Dreifuss muscular dystrophy (OMIM 310300), X-linked myopathy with postural muscle atrophy (XMPMA, OMIM 300696), scapuloperoneal myopathy (OMIM 300695), or reducing body myopathy (OMIM 300717, 300718). (mpg.de)
- Myopathies are named based on the classical description (eg, Duchenne and Becker muscular dystrophy), their phenotype to include the distribution of weakness (eg, limb-girdle muscular dystrophy or facioscapulohumeral dystrophy), or the specific underlying genetic defect (eg, laminopathy secondary to LMNA mutations). (mhmedical.com)
Congenital muscular dy2
- The prevalence of autosomal recessive muscle disorders like LGMD and congenital muscular dystrophies are rare in Pakistani populations. (biomedcentral.com)
- Muscular dystrophies may present at birth as congenital muscular dystrophies (CMDs), such as merosin deficiency CMD, or later in childhood, such as Duchenne muscular dystrophy (DMD). (mhmedical.com)
EDMD3
- Emery-Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles. (wikipedia.org)
- Dilated cardiomyopathy (DCM) with conduction disturbances is one of the leading serious manifestations in genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). (longdom.org)
- It is a deficit of lamins A/C or emerin in skeletal muscle and heart muscle that causes the rare, genetically transmitted disease known as Emery-Dreifuss muscular dystrophy (EDMD). (longdom.org)
Myopathy2
- Less common is Miyoshi-like disease (Miyoshi muscular dystrophy 3) with early-adult-onset calf distal myopathy (around age 20 years). (beds.ac.uk)
- The use of the term muscular dystrophy generally implies an inherited myopathy in which there is progressive degeneration and necrosis of muscle cells ( Fig. 563-1 ). (mhmedical.com)
Familial Partial Lipodystrophy1
- These include Charcot-Marie-Tooth disease type 2B, 7 forms of dilated cardiomyopathy, 8 both autosomal dominant and autosomal recessive forms of Emery-Dreifuss muscular dystrophy, 9, 10 limb girdle muscular dystrophy type 1B, 11 Dunnigan-type familial partial lipodystrophy, 12- 14 and Hutchinson-Gilford progeria. (bmj.com)
Autosomal recessive2
- Researchers have identified several types of Emery-Dreifuss muscular dystrophy that are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. (medlineplus.gov)
- Emery-Dreifuss muscular dystrophy can be sub-classified by pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. (wikipedia.org)
FHL11
- Muscle problems due to the FHL1 deletion are not to be expected before late childhood, which is the earliest age of onset for FHL1 associated Emery-Dreifuss muscular dystrophy. (mpg.de)
Diagnosis1
- Making the diagnosis of a particular type of limb girdle muscular dystrophy (LGMD) can appear challenging. (bmj.com)
Skeletal muscles1
- Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). (medlineplus.gov)
Becker1
- Dystrophinopathies include a severe form of disease known as DMD and a milder form, called Becker muscular dystrophy (BMD). (mhmedical.com)
Disorders1
- Some researchers consider these to be types of Emery-Dreifuss muscular dystrophy, while others believe that they represent similar, but separate, disorders. (medlineplus.gov)
Onset1
- The most typical presentation is limb-girdle muscular dystrophy type 2L (LGMD2L) with late-onset proximal lower-limb weakness in the fourth or fifth decade (range 15-70 years). (beds.ac.uk)
Calf1
- Patient with LGMD had a similar disease course as Duchene muscular dystrophy (DMD), had calf hypertrophy and were non-ambulatory after age 15. (biomedcentral.com)
Contractures1
- Researchers continue to investigate how genetic changes can lead to the joint contractures, muscle weakness, and heart abnormalities characteristic of Emery-Dreifuss muscular dystrophy. (medlineplus.gov)
Muscle1
- The genes associated with Emery-Dreifuss muscular dystrophy appear to be essential for the normal function of skeletal and cardiac muscle. (medlineplus.gov)
Common1
- DMD is the most common hereditary childhood muscular dystrophy, with an estimated incidence of 1 in 3500 boys. (mhmedical.com)
People1
- Almost all people with Emery-Dreifuss muscular dystrophy develop heart problems by adulthood. (medlineplus.gov)
Conditions1
- Changes in several other genes result in conditions that resemble Emery-Dreifuss muscular dystrophy, but with more variable features. (medlineplus.gov)
Result1
- citation needed] Weakness of the peroneal muscles can result in toe walking, which can present in the first decade of life. (wikipedia.org)
Progressive1
- citation needed] The weakness is slowly progressive and preferentially involves the muscles that overlie the humerus bone (biceps and triceps muscles) and those situated on the outside of the lower leg (peroneal). (wikipedia.org)
Duchenne11
- Responses to this announcement may include basic, translational or patient-oriented studies of Duchenne/Becker muscular dystrophy, facioscapulohumeral dystrophy, myotonic dystrophy or other forms of muscular dystrophy. (nih.gov)
- In muscle from a Duchenne muscular dystrophy biopsy, nesprin-1-α2 protein was detected mainly in regenerating fibres expressing neonatal myosin. (biomedcentral.com)
- Dystrophin: the protein product of the Duchenne muscular dystrophy locus. (riajournal.com)
- American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation. (riajournal.com)
- Hayes J, Veyckemans F, Bissonnette B. Duchenne muscular dystrophy: An old anesthesia problem revisited. (riajournal.com)
- Anaesthesia induced rhabdomyolysis in Duchenne muscular dystrophy. (riajournal.com)
- Onset and duration of mivacurium induced neuromuscular block in patient with Duchenne muscular dystrophy. (riajournal.com)
- Blake DJ, Kroger S. The neurobiology of Duchenne muscular dystrophy: learning lesions from muscles. (riajournal.com)
- They identified three principal groups of muscular dystrophies (Duchenne-type, facioscapulohumeral, and limb girdle) and three comparatively uncommon forms (distal, oculopharyngeal, and congenital). (bmj.com)
- Up to a third of boys with Duchenne-type dystrophy have some degree of intellectual impairment, and in severe cases special schooling may have to be considered. (bmj.com)
- [9] FSHD affects up to 1 in 8,333 people, [2] putting it in the three most common muscular dystrophies with myotonic dystrophy and Duchenne muscular dystrophy . (mdwiki.org)
Facioscapulohumeral2
- Applications are specifically solicited for studies of Emery-Dreifuss, facioscapulohumeral, limb girdle muscular dystrophy 1B, and oculopharyngeal muscular dystrophies. (nih.gov)
- Facioscapulohumeral muscular dystrophy ( FSHD ) is a type of muscular dystrophy , a group of heritable diseases that cause degeneration of muscle and progressive weakness . (mdwiki.org)
Myotonic1
- 11 The cardiac findings of Kearns-Sayre syndrome are similar to those seen in other neuromuscular disorders such as myotonic dystrophy type-1 (Steinert disease) and Emery-Dreifuss muscular dystrophy. (uscjournal.com)
Limb girdle mu19
- Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. (nih.gov)
- In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. (nih.gov)
- As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance. (nih.gov)
- Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy. (nih.gov)
- Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. (nih.gov)
- It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. (nih.gov)
- The various forms of limb-girdle muscular dystrophy are caused by mutations in many different genes. (nih.gov)
- Limb-girdle muscular dystrophy is classified on the basis of its inheritance pattern and genetic cause. (nih.gov)
- Limb-girdle muscular dystrophy type 1 includes forms of the disorder that have an inheritance pattern called autosomal dominant . (nih.gov)
- Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive . (nih.gov)
- Calpainopathy, or limb-girdle muscular dystrophy type 2A, is caused by mutations in the CAPN3 gene. (nih.gov)
- Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. (nih.gov)
- Dysferlinopathy, also called limb-girdle muscular dystrophy type 2B, is caused by mutations in the DYSF gene. (nih.gov)
- Sarcoglycanopathies are forms of limb-girdle muscular dystrophy caused by mutations in the SGCA , SGCB , SGCG , and SGCD genes. (nih.gov)
- These sarcoglycanopathies are known as limb-girdle muscular dystrophy types 2D, 2E, 2C, and 2F respectively. (nih.gov)
- A TTN gene mutation causes limb-girdle muscular dystrophy type 2J, which has been identified only in the Finnish population. (nih.gov)
- Mutations in the ANO5 gene cause limb-girdle muscular dystrophy type 2L. (nih.gov)
- Mutations in several other genes cause forms of limb-girdle muscular dystrophy called dystroglycanopathies, including limb-girdle muscular dystrophy types 2I, 2K, 2M, and 2N. (nih.gov)
- Other rare forms of limb-girdle muscular dystrophy are caused by mutations in several other genes, some of which have not been identified. (nih.gov)
Congenital3
- Other diseases that have early or congenital contractures are diseases involving collagen mutations, including Ullrich congenital muscular dystrophy and Bethlem myopathy. (wikipedia.org)
- The term 'congenital muscular dystrophy' (CMD) has been widely used to describe a group of infants with weakness and hypotonia from birth or within the first few months of life. (musculoskeletalkey.com)
- Although several of these early-onset disorders with hypotonia are described as congenital muscular dystrophies, it can be questioned whether they are true muscular dystrophies with muscle necrosis. (musculoskeletalkey.com)
FSHD1
- FSHD was first distinguished as a disease in the 1870s and 1880s when French physicians Louis Théophile Joseph Landouzy and Joseph Jules Dejerine followed a family affected by it, thus the initial name Landouzy-Dejerine muscular dystrophy . (mdwiki.org)
Prevalence1
- The overall prevalence of Emery-Dreifuss muscular dystrophy is unknown. (medlineplus.gov)
Recessive2
- Researchers have identified several types of Emery-Dreifuss muscular dystrophy that are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. (medlineplus.gov)
- Emery-Dreifuss muscular dystrophy can be sub-classified by pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. (wikipedia.org)
Pathogenesis1
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the National Institute of Neurological Disorders and Stroke (NINDS), the National Institute of Child Health and Human Development (NICHD) and the National Heart, Lung, and Blood Institute (NHLBI) encourage investigator-initiated research grant applications for projects studying pathogenesis and therapies for the muscular dystrophies. (nih.gov)
Genetic cause1
- In more than half of all cases of Emery-Dreifuss muscular dystrophy, the genetic cause of the condition is unknown. (medlineplus.gov)
Prognosis1
- Using protein studies and gene studies it is possible in the majority of cases to establish the precise diagnosis of a particular type of dystrophy, and thus provide a prognosis as well as genetic counselling and a reliable prenatal diagnosis. (bmj.com)
Clinically1
- also, the limb girdle dystrophies proved to be clinically and genetically very heterogeneous. (bmj.com)
Joint contractures1
- Researchers continue to investigate how genetic changes can lead to the joint contractures, muscle weakness, and heart abnormalities characteristic of Emery-Dreifuss muscular dystrophy. (medlineplus.gov)
Genes2
- The genes associated with Emery-Dreifuss muscular dystrophy appear to be essential for the normal function of skeletal and cardiac muscle. (medlineplus.gov)
- Changes in several other genes result in conditions that resemble Emery-Dreifuss muscular dystrophy, but with more variable features. (medlineplus.gov)
Clinical4
- Clinical aspects of Emery-Dreifuss muscular dystrophy. (nih.gov)
- clinical evaluation, including at least muscular and cardiac assessments if the pathogenic variant(s) in the family are not known. (nih.gov)
- In 1954 based on their own detailed clinical studies and an extensive review of the earlier literature, Walton and Nattrass 1 proposed a new and valuable classification of the muscular dystrophies. (bmj.com)
- During the past 10 years the European Neuromuscular Centre, now based in the Netherlands, has encouraged and coordinated both clinical and laboratory studies of dystrophy, many of which have led directly or indirectly to the advances reported here. (bmj.com)
Inheritance1
- Emery-Dreifuss muscular dystrophy can have several different patterns of inheritance. (medlineplus.gov)
Altmetric1
- Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (sc-ctsi.org)
Muscles4
- Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). (medlineplus.gov)
- citation needed] The weakness is slowly progressive and preferentially involves the muscles that overlie the humerus bone (biceps and triceps muscles) and those situated on the outside of the lower leg (peroneal). (wikipedia.org)
- citation needed] Weakness of the peroneal muscles can result in toe walking, which can present in the first decade of life. (wikipedia.org)
- Muscular dystrophies are a group of diseases that cause weakness and degeneration of the skeletal muscles. (brilliantessay.com)
Spine1
- RSMD, rigid spine with muscular dystrophy. (musculoskeletalkey.com)
Triad1
- [3] The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy , and leukoplakia of the oral mucosa , but these components do not always occur. (mdwiki.org)
Symptoms1
- Provide detailed information, in your own words using quotes sparingly, describing the features of a specific form of muscular dystrophy, including causes, symptoms, etc. (brilliantessay.com)
Molecular1
- The expected outcomes are improvements in understanding of the genetic, cell, and molecular mechanisms of these muscular dystrophies. (nih.gov)
Studies1
- Applications for studies of other muscular dystrophies are not responsive to this RFA. (nih.gov)
Article1
- Because each style has its own formatting nuances that evolve over time and not all information is available for every reference entry or article, Encyclopedia.com cannot guarantee each citation it generates. (encyclopedia.com)
Management1
- The anaesthetic management of patient with Emery Dreifuss muscular dystrophy for orthopaedic surgery. (riajournal.com)