FacioscapulohumeralEDMDLimb-GirdleMyotonic dystrophy typeWeaknessMyopathyPathogenesisPhenotypeDystrophinCentersGeneBenignOnset19611966DisordersMutationsSubgroupClinicallySevereSteroidsContracturesChildhoodEmerinMyopathies1997SymptomsSpecialtyMyotoniaMuscle proteinClinicalDiseasesSyndromeProgressionNeurologyFormSurvivalTreatmentsPatientsGroupAffectsSignificantlyFamilyBirthTreatmentChronicProgressiveForms
Facioscapulohumeral2
- Facioscapulohumeral muscular dystrophy, which often starts in the teenage years. (medlineplus.gov)
- There are many forms of muscular dystrophy, some noticeable at birth (congenital muscular dystrophy), others in adolescence (Becker MD), but the 3 most common types are Duchenne, facioscapulohumeral, and myotonic. (greatstepsop.com)
EDMD2
- 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. (medscape.com)
- Although it was probably first described in the early 1900s, Emery-Dreifuss muscular dystrophy (EDMD) was not clearly delineated as a separate disease until the 1960s. (medscape.com)
Limb-Girdle3
- Peripheral neuromuscular conditions in which the CK concentration is always elevated from birth include Duchenne muscular dystrophy (MD) and Becker MD, as well as some congenital and limb-girdle MDs. (medscape.com)
- This is true for limb-girdle, congenital and distal dystrophies. (greatstepsop.com)
- Limb-girdle muscular dystrophy is a group of inherited, progressive disorders that are characterized by weakness and of muscles of the hip and shoulder areas. (ericpedersen.org)
Myotonic dystrophy type2
- There are two major forms recognized based on clinical and molecular presentation: Myotonic dystrophy type I (DM1), known as Steinert disease, and myotonic dystrophy type II (DM2), or proximal myotonic myopathy which is a milder variety of DMI. (rxharun.com)
- Myotonic Dystrophy Type II - DM2 typically manifests in adulthood (median age 48 years) and has a variable presentation. (rxharun.com)
Weakness6
- The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. (greatstepsop.com)
- Early signs of progressive muscular weakness may include delayed ability to sit, stand, or walk, and difficulties learning to speak. (medscape.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)
- Mild Myotonic Dystrophy - The mild form of DM1 or the oligosymptomatic form is associated with mild weakness, myotonia, and cataracts that begin between 20 to 70 years (typically after age 40 years). (rxharun.com)
- In medicine , a myopathy is a neuromuscular disease in which the muscle fibers do not function for any one of many reasons, resulting in muscular weakness . (wikidoc.org)
- Clinically, muscular dystrophies are typically progressive, because the muscles' ability to regenerate is eventually lost, leading to progressive weakness, often leading to use of a wheelchair , and eventually death, usually related to respiratory weakness. (wikidoc.org)
Myopathy1
- Myotonic dystrophy (DM) is considered a subgroup of myopathy and the most common type of muscular dystrophy that begins in adulthood. (rxharun.com)
Pathogenesis2
- Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. (medscape.com)
- We hope that the novel analyses of milestone-related disease progression assessed by time-to-event across the lifespan used in this study will provide a framework through which multiple therapeutics targeting various aspects of Duchenne muscular dystrophy pathogenesis can be assessed for long-term efficacy. (medscape.com)
Phenotype2
- A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy. (medscape.com)
- The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. (medscape.com)
Dystrophin5
- Duchenne MD primarily affects boys and is the result of mutations in the gene that regulates dystrophin - a protein involved in maintaining the integrity of muscle fiber. (greatstepsop.com)
- An absence of the muscle protein dystrophin is the underlying cause of Duchenne muscular dystrophy (DMD) , while a partial lack of dystrophin is the cause of Becker muscular dystrophy (BMD) . (mda.org)
- Becker muscular dystrophy is in the category of inherited muscle wasting diseases caused by a gene abnormality (mutation) that results in deficient or abnormal production of the dystrophin protein (dystrophinopathies). (ericpedersen.org)
- Becker muscular dystrophy is caused by abnormalities (mutations) in the DMD gene that is responsible for the production of the dystrophin protein. (ericpedersen.org)
- The DMD gene mutations that cause Duchenne muscular dystrophy result in little or no dystrophin protein to be made. (ericpedersen.org)
Centers2
- In 1974 Dreifuss competed successfully for an NIH-sponsored grant for the formation of a comprehensive epilepsy center, forming one of the three original centers in the US. (wikipedia.org)
- For more detailed, up-to-date information about a specific disease, visit the Muscular Dystrophy Association's disease information centers . (globalgenes.org)
Gene8
- Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. (medscape.com)
- Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. (medscape.com)
- Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. (medscape.com)
- As the root causes (gene defects) of the muscular dystrophies are discovered, doctors are beginning to change their thinking about how to classify some of the dystrophies. (greatstepsop.com)
- In some cases, a type of muscular dystrophy that looked like it might be one disease has been found to be several different diseases, caused by several different gene defects. (greatstepsop.com)
- A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. (cdc.gov)
- The DMD gene is located on the X chromosome and Becker muscular dystrophy follows x-linked recessive inheritance. (ericpedersen.org)
- Duchenne muscular dystrophy is an x-linked recessive genetic disease that is also caused by mutations in the DMD gene. (ericpedersen.org)
Benign2
- Unusual type of benign x-linked muscular dystrophy. (medscape.com)
- In 1961, Dreifuss and Hogan described a large family with an X-linked form of muscular dystrophy that they considered to be a benign form of Duchenne muscular dystrophy. (medscape.com)
Onset2
- Others are based on the type of muscle problem involved ("myotonic" means difficulty relaxing muscles), the age of onset of the disease (as in "congenital," or birth-onset, dystrophy), or the doctors who first described the disease (Duchenne, Becker, Emery and Dreifuss are doctors' names). (greatstepsop.com)
- Congenital Myotonic Dystrophy (CDM) - The congenital form presents in about 15% of cases, with fetal-onset involvement of muscle and the CNS, and typically is seen in those with more than 1,000 repeats. (rxharun.com)
19611
- In 1961 Dreifuss and colleagues described a family with form of muscular dystrophy distinct from more severe Duchenne and Becker muscular dystrophies. (wikipedia.org)
19661
- Subsequent evaluation of this family by Emery and Dreifuss in 1966 led to distinguishing this type of X-linked dystrophy from the more severe Duchenne and Becker muscular dystrophies. (medscape.com)
Disorders3
- Diagnostic tests may also be used to help the doctor distinguish between different forms of muscular dystrophy, or between muscular dystrophy and other disorders of muscle or nerve. (greatstepsop.com)
- A high potassium level has many causes, including kidney disorders, medications that affect kidney function, and consumption of. (msdmanuals.com)
- Symptoms of the following disorders can be similar to those of Becker muscular dystrophy (BMD). (ericpedersen.org)
Mutations1
- Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. (medscape.com)
Subgroup1
- G71.0) Dystrophies (or muscular dystrophies) are a subgroup of myopathies characterized by muscle degeneration and regeneration. (wikidoc.org)
Clinically1
- Previous studies have provided moderate-quality evidence that glucocorticoid therapy improves muscle strength or function or both for up to 2 years in patients with Duchenne muscular dystrophy, but there are also clinically significant adverse effects of long-term glucocorticoid treatment. (medscape.com)
Severe1
- Becker muscular dystrophy, which is similar to Duchenne but is less severe and gets worse more slowly. (medlineplus.gov)
Steroids1
- Dr. Nathalie Goemans from KU Leuven, University of Leuven, Faculty of Medicine, in Belgium, who wrote a related editorial, told Reuters Health by email, "These results are important as they confirm previous reports and studies on the benefits of long-term steroids in Duchenne muscular dystrophy (DMD). (medscape.com)
Contractures2
- 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)
- According to the National Library of Medicine of the United States , contractures and cramps are included within the group of muscular diseases. (muysalud.com)
Childhood3
- Duchenne muscular dystrophy, which is the most common childhood form. (medlineplus.gov)
- Muscular dystrophy can occur at infancy or childhood. (stgeorgeorthopaedics.com.au)
- Childhood Myotonic Dystrophy - The childhood (infantile) subset of DM1 typically presents around age 10. (rxharun.com)
Emerin2
- Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. (medscape.com)
- Ellis JA, Yates JR, Kendrick-Jones J, Brown CA. Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. (medscape.com)
Myopathies1
- Conditions in which CK is mildly elevated or normal include spinal muscular atrophy, neuropathies, and congenital myopathies. (medscape.com)
19971
- Fritz E. Dreifuss, MD (January 20, 1926 - October 18, 1997) was a German-born, New Zealand-educated, American neurologist and subspecialist in epilepsy based at the University of Virginia in Charlottesville, Virginia, US. (wikipedia.org)
Symptoms3
- With collaborator Kiffin Penry and others and with the use of advanced video-EEG techniques, Dreifuss investigated the correlations between the clinical symptoms of absence seizures and their accompaniments on EEG. (wikipedia.org)
- Becker muscular dystrophy usually begins in the teens or early twenties and symptoms vary greatly between affected individuals. (ericpedersen.org)
- Symptoms of Becker muscular dystrophy usually begin in the teens or late twenties. (ericpedersen.org)
Specialty1
- Although his specialty was epilepsy, Dreifuss published extensively in clinical descriptions within other neurological fields. (wikipedia.org)
Myotonia2
- Myotonia is usually treated with medications such as mexiletine, phenytoin, or quinine. (greatstepsop.com)
- Myotonia, due to myotonic dystrophy, improves with repeated exercise and is worsened by exposure to cold. (rxharun.com)
Muscle protein1
- Flaws in muscle protein genes cause muscular dystrophies. (greatstepsop.com)
Clinical4
- Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. (medscape.com)
- Dreifuss' clinical and research career centered on the evaluation and treatment of epilepsy in children and adults. (wikipedia.org)
- With electrophysiology colleagues, Dreifuss aided in the development of the video-EEG system and was one of its early adopters in clinical epilepsy research. (wikipedia.org)
- See Help Today, Help Tomorrow is Goal of MDA's Duchenne Clinical Research Network to learn more. (mda.org)
Diseases4
- Muscular dystrophy (MD) is a group of more than 30 genetic diseases . (medlineplus.gov)
- Muscular dystrophy refers to group of hereditary diseases that weakens the muscles associated with movements. (stgeorgeorthopaedics.com.au)
- Before entering fully into the most widespread diseases of the muscular system, we find it interesting to contextualize these diseases from an epidemiological point of view. (muysalud.com)
- Although it's more of a "bone pain", lumbago falls into the category of the most common muscular diseases due to its origin in this system. (muysalud.com)
Syndrome1
- This syndrome is now designated Emery-Dreifuss muscular dystrophy. (wikipedia.org)
Progression2
- NEW YORK (Reuters Health) - Long-term glucocorticoid treatment is associated with slower progression and reduced risk of death in patients with Duchenne muscular dystrophy, according to results from the Cooperative International Neuromuscular Research Group (CINRG). (medscape.com)
- The progression of BMD is slower and more variable than Duchenne muscular dystrophy but usually results in the need for a wheel chair. (ericpedersen.org)
Neurology1
- At the University of Virginia, Dreifuss achieved the title of full Professor of Neurology in 1968 and was awarded the first T.R. Johns Chair of Neurology in 1990 and the Worrell Chair in 1993. (wikipedia.org)
Form4
- There is no specific treatment for any form of muscular dystrophy but certain medications, physical therapy and assistive devices can slow the progress of some forms of muscular dystrophy. (stgeorgeorthopaedics.com.au)
- Studying a small piece of muscle tissue taken from an individual during a muscle biopsy can sometimes tell a physician whether a disorder is muscular dystrophy and which form of the disease it is. (greatstepsop.com)
- A milder, more slowly progressing form of Duchenne MD (see below). (globalgenes.org)
- Classic Myotonic Dystrophy - The classic form of DM1 usually manifests during 2, 3, or 4 decades of life. (rxharun.com)
Survival1
- Dreifuss FE, Hogan GR. Survival in x-chromosomal muscular dystrophy. (medscape.com)
Treatments2
- What are the treatments for muscular dystrophy (MD)? (medlineplus.gov)
- Provide first aid and administer routine medications and treatments. (mda.org)
Patients2
- Daily corticosteroid use is significantly more effective than an intermittent regimen for improving motor function in patients with Duchenne muscular dystrophy (DMD), a new study suggests. (medscape.com)
- Our future plans are to expand the CINRG Duchenne Natural History Study (increased numbers of patients with longer-term follow-up), which will yield additional data on the effect of other treatment standards, alone or in combination, that are articulated in internationally recommended care considerations guidelines," the researchers note. (medscape.com)
Group1
- Polymyositis or the group of muscular dystrophies (MD) are clear examples of this category. (muysalud.com)
Affects1
- Becker muscular dystrophy follows x-linked recessive inheritance so it mostly affects males, but some females are affected. (ericpedersen.org)
Significantly1
- The CK concentration is significantly elevated in Duchenne MD (DMD), usually above 1000 U/L. DMD is an X-linked disorder, and there may be a family history of affected males on the maternal side. (medscape.com)
Family3
- To escape German state persecution of Jews, the Dreifuss family emigrated to New Zealand, arriving in 1937. (wikipedia.org)
- Muscular dystrophy can run in families, or you can be the first in your family to have a muscular dystrophy. (medlineplus.gov)
- Because the muscular dystrophies can be inherited, it's important for the doctor to know if anyone in the family ever had a similar disorder. (greatstepsop.com)
Birth1
- Congenital muscular dystrophies, which are present at birth or before age 2. (medlineplus.gov)
Treatment4
- Accordingly, treatment of absence epilepsy could be accurately measured by tracking the amount of spike-wave discharges captured via EEG Dreifuss used these techniques and others in the process of development of anticonvulsant medications for use in absence epilepsy as well as in other epileptic conditions. (wikipedia.org)
- Treatment includes physical therapy, occupational therapy, use of specialized equipments, and medications to reduce spastic movements and prevent seizures. (stgeorgeorthopaedics.com.au)
- Optimal Treatment Regimen for Muscular Dystrophy Identified? (medscape.com)
- The primary outcome included a composite of three endpoints: rise from the floor velocity (in seconds), forced vital capacity, and participant/parent treatment satisfaction questionnaire for medication (TSQM). (medscape.com)
Chronic1
- These data empower the clinicians to convince and support the parents to give this chronic medication despite the known side effects, awaiting better drugs or drugs with less side effects," Dr. Goemans said. (medscape.com)
Progressive1
- If BP remained uncontrolled after three months, study medication dose was doubled, and if uncontrolled after six months, amlodipine (5 and 10 mg) and propranolol (40 and 80 mg BID) were added as open label drugs in a progressive fashion. (bvsalud.org)
Forms2
- What are the forms of muscular dystrophy? (greatstepsop.com)
- How do the forms of muscular dystrophy differ? (greatstepsop.com)