Indicates muscular dystrophies. Medical search. Frequent questions

Duchenne and Becker muscular dystrophies are inherited X-linked, recessive disorders characterised by an abnormality in the dystrophin gene and in which elevated serum creatinine kinase activity is observed. (escardio.org)
Duchenne and Becker muscular dystrophy are two inherited muscle-wasting diseases caused by mutations in the same gene on the X chromosome. (yourgenome.org)
Both Duchenne and Becker muscular dystrophy are single gene disorders caused by different mutations in the DMD gene, which is located on the X chromosome . (yourgenome.org)
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)

What are the types of muscular dystrophy (MD)? (medlineplus.gov)
Duchennes is one of the most common types of muscular dystrophy. (mobilityworks.com)
The most common types of muscular dystrophy, like Duchenne's and Becker's appear to be due to a genetic mutation resulting in the absence or deficiency of dystrophin , a protein involved in maintaining the integrity of muscle. (drweil.com)
Some types of muscular dystrophy cause symptoms starting in childhood. (msdmanuals.com)

Donders J, Taneja C. Neurobehavioral characteristics of children with Duchenne muscular dystrophy. (medscape.com)

Limb-girdle muscular dystrophies include at least 33 different inherited diseases. (medlineplus.gov)
Limb-girdle muscular dystrophies are a large group of genetic diseases in which there is muscle weakness and wasting (muscular dystrophy). (medlineplus.gov)

Muscular dystrophy is a general term for a group of inherited diseases involving defects in the genes responsible for normal muscle functioning. (drweil.com)

2023, Muscular Dystrophy Association Inc. All rights reserved. (mda.org)

Congenital muscular dystrophies, which are present at birth or before age 2. (medlineplus.gov)
Fukuyama congenital muscular dystrophy (FCMD) is one of the congenital muscular dystrophies, showing central nervous system (CNS) and ocular lesions, in addition to muscular dystrophy. (intechopen.com)
Congenital Muscular Dystrophies are a group of inherited neuromuscular disorders. (wisdompanel.com)

Becker muscular dystrophy, which is similar to Duchenne but is less severe and gets worse more slowly. (medlineplus.gov)
With Becker muscular dystrophy, the incidence is one in 20,000 males. (yourgenome.org)
In Becker muscular dystrophy near normal amounts of dystrophin are produced but the protein doesn't function properly. (yourgenome.org)
People with Becker muscular dystrophy usually have a normal lifespan. (yourgenome.org)
The patient showed wide of Becker muscular dystrophy, but weakc based gait and tiptoe walking. (who.int)

There is no cure for muscular dystrophy. (medlineplus.gov)
Although the team are not suggesting that this is the cure for muscular dystrophy at this stage, what they have shown is that there are cells that can be used to effectively repair adult muscle, which might be useful for a host of different diseases. (thenakedscientists.com)

Sussman MD. Advantage of early spinal stabilization and fusion in patients with Duchenne muscular dystrophy. (medscape.com)
To investigate the natural course of the spinal deformity in Duchenne muscular dystrophy (DMD) and its clinical relevance, longitudinal series of spinal radiographs and medical records of 46 patients with DMD were reviewed. (nih.gov)
Join Muscular Dystrophy UK for their Muscles Matter 2022 seminar on spinal muscular atrophy (paediatrics) on Thursday 8 December 10am - 12pm. (mdi.ie)
The soft robotic glove under development at the Wyss Institute could one day be an assistive device used for grasping objects, which could help patients suffering from muscular dystrophy, amyotrophic lateral sclerosis (ALS), incomplete spinal cord injury, or other hand impairments to regain some daily independence and control of their environment. (harvard.edu)

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)

González-Herrera L, Gamas-Trujillo PA, García-Escalante MG, Castillo-Zapata I, Pinto-Escalante D. [Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy]. (medscape.com)
Intelligence and the gene for Duchenne muscular dystrophy. (medscape.com)
Duchenne muscular dystrophy, caused by gene mutations, is an inheritable neuromuscular disorder that occurs in one out of 3,600 male births. (uh.edu)
Both Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked, recessive disorders in which the genetic locus has been identified as an abnormality in the dystrophin gene. (escardio.org)
One very promising area for gene therapy is in the muscle-wasting disease Duchenne Muscular Dystrophy, which affects about one in every three thousand males. (thenakedscientists.com)
Two and a half years ago, a study published in Science Advances detailed how the gene editing tool CRISPR/Cas-9 repaired genetic mutations related to Duchenne Muscular Dystrophy (DMD). (singularityhub.com)
Though the treatment's positive results are limited to a small group, they're an important breakthrough for gene therapy, and encouraging not just for muscular dystrophy but for many other genetic diseases that could soon see similar treatments developed. (singularityhub.com)
Thus far, all of the mutations characterized in dogs with muscular dystrophy have been in the dystrophin gene. (cornell.edu)
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)
Limb-girdle muscular dystrophy type 2A is an autosomal recessive disorder generated by inactivating mutations in the gene coding for the muscle specific protease calpain-3. (lu.se)

The University of Rochester Medical Center is home to one of three original Muscular Dystrophy Cooperative Research Centers set up by the National Institutes of Health. (rochester.edu)

To support research intended to develop treatments for muscular dystrophies and related diseases of the neuromuscular system. (encyclopedia.com)
This usually happens when a boy is 3 to 5 years old, and when a parent, caregiver, or doctor recognizes signs of abnormal walking, according to Leigh Maria Ramos-Platt, MD , a pediatric neurologist and the director of the Muscular Dystrophy Association Neuromuscular Clinic at Children's Hospital in Los Angeles. (everydayhealth.com)
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)

Emery-Dreifuss muscular dystrophy. (medscape.com)
Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. (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)
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)
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)
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. (medscape.com)

Shapiro F, Specht L. The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. (medscape.com)
A diagnosis of Duchenne muscular dystrophy (DMD) can come as a shock to parents and caregivers. (healthline.com)
Muscular Dystrophies include a heterogeneous series of diseases that range from childhood to adult onset cases of difficult diagnosis and treatment. (novapublishers.com)

The atria appear cular dystrophy (EDMD), the type reported to be involved earlier than the ventricles, here, is less common. (who.int)

Nutritional Muscular Dystrophy (Nutritional Myopathy or White Muscle Disease) is a disease caused by a deficiency of selenium and vitamin E in dietary intake. (wikipedia.org)
Oculopharyngeal muscular dystrophy (OPMD) is a rare, autosomal dominant, late-onset myopathy. (lumc.nl)

Duchenne muscular dystrophy, the most common form of incurable muscular dystrophy in children, generally leads to death in early adulthood or before. (scienceblog.com)

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. (medscape.com)

The Neurology Muscular Dystrophy and Neuropathy Institute, headed by Doctor Natan Shaoulian. (viesearch.com)

Join Muscular Dystrophy UK for their upcoming Muscles Matter 2022 online seminar on Duchenne muscular dystrophy (adults) which will take place on Monday 5 December 2022 from 10am to 12pm. (mdi.ie)

What are the treatments for muscular dystrophy (MD)? (medlineplus.gov)
Also, advances in therapy and therapeutical trials are presented in Duchenne and other muscular dystrophies, and some novel treatments in glycogen storage disease by enzyme replacement are proposed. (novapublishers.com)
Key studies and clinical trials are currently being carried out to assess the effectiveness of new treatments for muscular dystrophy. (yourgenome.org)
The physical abilities and progress of children with muscular dystrophy are assessed to determine if the new treatments are effective in treating the disease. (yourgenome.org)
Dr Marita Pohlschmidt, Director of Research at the Muscular Dystrophy Campaign said: "We are at a crucial stage in research into finding treatments for Duchenne muscular dystrophy. (bionity.com)

Peripheral eosinophil count was negatively correlated with the Vignos muscle strength score in pediatric patients with Duchenne muscular dystrophy (DMD) and was found to be a protective factor for muscle strength. (medscape.com)
Vyondys 53 for patients with a form of Duchenne's muscular dystrophy. (ktvu.com)
Leiden University Medical Center (LUMC) and Dutch drugmaker Prosensa's RNA-based therapeutic PRO051 restored dystrophin expression in patients with Duchenne Muscular Dystrophy. (fdanews.com)
For so many reasons, we're excited about these studies and their potential to transform the care of patients with both Marfan syndrome and Duchenne muscular dystrophy," says Dietz. (scienceblog.com)
The researchers say their findings suggest that "dietary intervention in Duchenne muscular dystrophy patients is feasible. (worldhealth.net)
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)

What are the symptoms and forms of muscular dystrophy? (drweil.com)
Signs and symptoms vary according to the type of muscular dystrophy. (drweil.com)
Symptoms are similar to Duchenne muscular dystrophy, but they generally don't appear until the patient is in their teens. (yourgenome.org)
What are the symptoms of muscular dystrophies? (msdmanuals.com)
Doctors suspect muscular dystrophies from your symptoms and family history. (msdmanuals.com)

Dobrowski JM, Zajtchuk JT, LaPiana FG, Hensley SD Jr. Oculopharyngeal muscular dystrophy: clinical and histopathologic correlations. (medscape.com)
Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. (medscape.com)

Congenital Muscular Dystrophy (CMD) is a progressive muscular disorder characterized by muscle wasting, formation of excess connective tissue in the muscles, and possibly abnormal nerve conduction. (wisdompanel.com)

distrofia muscular de Duchenne e/ou pressões respiratórias máximas e/ou faixa etária . (bvsalud.org)

Bushby K. Genetics and the muscular dystrophies. (medscape.com)
Emery AEH, Muntoni F, Quinlivan R. Duchenne Muscular Dystrophy (Oxford Monographs on Medical Genetics) . (medscape.com)

This is the most common form of muscular dystrophy but also the most severe. (yourgenome.org)
Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and affects boys in infancy or early childhood. (nature.com)

Myotonic dystrophy is an inherited disorder, the most common form of a group of conditions called muscular dystrophies that involve progressive muscle wasting and weakness. (scripps.edu)
At a very young age, Ethan was diagnosed with Duchennes Muscular Dystrophy (DMD), a genetic disorder characterized by progressive muscle degeneration and weakness. (mobilityworks.com)
The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration in the voluntary muscles that control movement. (drweil.com)
Weakness in respiratory muscles can cause difficulties with breathing, and heart rhythm abnormalities can lead to repeated bouts of fatigue, dizziness, and fainting.Rarely, infants can have this form of MD, known as congenital myotonic dystrophy. (drweil.com)
Signs can include poor body condition with generalized muscle atrophy, muscular weakness, decreased reflexes, a stiff and short-strided gait, decreased appetite and regurgitation. (wisdompanel.com)
Dystrophin deficiency thus, leads to destruction of muscle fibres and progressive muscular weakness. (who.int)
the decrease in pulmonary function in people with Duchenne muscular dystrophy (DMD) contributes to a significant morbidity due to the progressive weakness of the respiratory muscles. (bvsalud.org)

Muscular Dystrophy is a group of genetic disorders that lead to the progressive weakening and breakdown of skeletal muscles. (homeinstead.com)

Researchers at Johns Hopkins have shown that a drug commonly used to lower blood pressure reverses muscle wasting in genetically engineered mice with Marfan syndrome and also prevents muscle degeneration in mice with Duchenne muscular dystrophy. (scienceblog.com)
To explore whether they could be used to repair diseased muscles, the satellite cells were labelled with a glowing green protein and injected into the muscles of mice carrying a mutation in their dystrophin genes, giving them the rodent equivalent of muscular dystropy. (thenakedscientists.com)
The study of mice with a Duchenne muscular dystrophy-like disease revealed that daily doses of green tea extract appeared to slow down deterioration of some muscle tissue. (worldhealth.net)
Partial least squares discriminant analysis was applied to the spectral dataset acquired from blood serum of a mouse model of Duchenne muscular dystrophy ( mdx ) and control mice. (nature.com)

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. (medscape.com)
Canine muscular dystrophy is a rare, inherited disorder. (cornell.edu)

Horses may also develop a more chronic delayed form of the disease called Neuroaxonal Dystrophy (NAD) or Equine Degenerative Myeloencephalopathy (EDM). (wikipedia.org)
WASHINGTON - U.S. health regulators approved a second drug for a debilitating form of muscular dystrophy, a surprise decision after the medication was rejected for safety concerns just four months ago. (ktvu.com)
Duchenne muscular dystrophy, which is the most common childhood form. (medlineplus.gov)
For the first time, scientists from the Florida campus of The Scripps Research Institute (TSRI) have identified small molecules that allow for complete control over a genetic defect responsible for the most common adult onset form of muscular dystrophy. (scripps.edu)
Scientists have shown that satellite cells, a form of muscle stem cell, can be used to repair muscles affected by muscular dystrophy. (thenakedscientists.com)
On the Jan. 21 Season 5 premiere of Teen Mom 2, Leah Messer revealed that her 4-year-old daughter, Aliannah, has a rare form of muscular dystrophy. (usmagazine.com)
Messer, 21, learned that Aliannah is suffering from a rare form of muscular dystrophy. (usmagazine.com)
Each form of muscular dystrophy is caused by a genetic mutation that's particular to that type of the disease. (drweil.com)
This is a less aggressive form of muscular dystrophy. (yourgenome.org)
Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy which typically affects male infants. (nature.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)

Clinical signs associated with Congenital Muscular Dystrophy, identified in the Italian Greyhound, will be present by a few months of age in affected dogs. (wisdompanel.com)

Myotonic dystrophy type 1 is caused a type of RNA defect known as a "triplet repeat," a series of three nucleotides repeated more times than normal in an individual's genetic code. (scripps.edu)
The first authors of the study, "Induction and Reversal of Myotonic Dystrophy Type 1 Pre-mRNA Splicing Defects by Small Molecules," are Jessica L. Childs-Disney of TSRI, Ewa Stepniak-Konieczna of Adam Mickiewicz University (Poland) and Tuan Tran of TSRI. (scripps.edu)
Unusual type of benign x-linked muscular dystrophy. (medscape.com)
A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2A. (lu.se)

Muscular dystrophies are a group of disorders passed down from a parent (inherited) in which muscles waste away. (msdmanuals.com)

Muscular dystrophies are caused by abnormal genes that are passed down from a parent. (msdmanuals.com)

Muscular dystrophy can run in families, or you can be the first in your family to have a muscular dystrophy. (medlineplus.gov)
Conditions like ALS and Duchenne muscular dystrophy fall under this category, affecting individuals and families in profound ways. (homeinstead.com)
We usually buy a couple of vans a year to give to Hoosier families living with muscular dystrophy who are in need of accessible vehicles. (mdff.org)
The Muscular Dystrophy Family Foundation regularly awards wheelchair-accessible vans to families needing reliable transportation. (mdff.org)

Duchenne muscular dystrophy is one of the most common dystrophinopathies known. (who.int)

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)

Tricia and her husband, Dale, took Jared to see Dr. Emma Ciafaloni , a neurologist and expert in Muscular Dystrophy. (rochester.edu)

The term muscular dystrophy encompasses a number of diseases characterised by progressive muscle wasting. (yourgenome.org)

Skeletal muscle biopsy showed mild nonspecific changes, but her family history was significant for a son who died of Duchenne muscular dystrophy (DMD). (nih.gov)

Duchenne muscular dystrophy is caused by a single genetic mutation. (worldhealth.net)

The Muscular Dystrophy Association (MDA) is a qualified 501(c)(3) tax-exempt organization. (mda.org)
Vamshi K. Rao, MD , a pediatric neurologist and the codirector of the Muscular Dystrophy Association Clinic at Lurie Children's Hospital in Chicago, laments that testing for Duchenne often happens much later than is ideal, "because people have not thought about associated features that you could catch early. (everydayhealth.com)
People from all corners of the South Shore gather for this special event that serves as a fundraiser to benefit the Muscular Dystrophy Association (MDA). (homeinstead.com)
Muscular Dystrophy Association of America, Inc., the Chicago Heart Association and the National Institutes of Health. (fao.org)

Anatomy18

Organisms7

Diseases39

Chemicals and Drugs43

Analytical, Diagnostic and Therapeutic Techniques and Equipment15

Psychiatry and Psychology1

Phenomena and Processes36

Disciplines and Occupations2

Humanities1

Information Science3

Health Care3

Duchenne and Becker4

Types of muscular dystrophy4

Children with Duchenne muscular1

Limb-girdle muscular dystrophies2

Inherited diseases1

20231

Congenital muscular dy3

Becker Muscular5

Cure for muscular dystrophy2

Spinal4

Pathogenesis2

Gene12

Centers1

Neuromuscular3

Emery-Dreifuss7

Diagnosis3

EDMD1

Myopathy2

Incurable muscular1

Mutations1

Neurology1

20221

Treatments5

Patients6

Symptoms5

Oculopharyngeal2

Connective tissue1

Distrofia muscular1

Genetics2

Severe2

Weakness7

Group of genetic1

Mice4

Disorder2

Form11

Clinical1

Type4

Muscles1

Abnormal1

Families4

Dystrophinopathies1

Steroids1

Emma Ciafaloni1

Progressive1

Skeletal muscle1

Genetic mutation1

Association4