Muscular dystrophy demographics
[PDF File]Patient demographics and characteristics from an ambispective ...
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duchenne muscular dystrophy, neuromuscular disorder, genetic diagnosis, patient demographics, Saudi Arabia, muscular dystrophy, dystrophy gene Introduction Duchenne muscular dystrophy (DMD) is a ...
Summary of Evidence-based Guideline for CLINICIANS EVIDENCE-BASED ...
1 American Academy o Neurology AAN.com Level B For patients with suspected muscular dystrophy, clinicians should use a clinical approach to guide genetic diagnosis based on the clinical phenotype, including the pattern of muscle involvement, inheritance pattern, and associated manifestations (e.g., early contractures,
[PDF File]Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (DMD ...
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Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (DMD) Common Data Elements (CDEs) Page 1 of 15 The Laboratory Tests CDE recommendations have been divided into separate categories and sorted alphabetically. The recommendations are presented in different tables as shown below: • Table 1 – CBC with Differential
[PDF File]Limb-girdle muscular dystrophy - MedlinePlus
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Limb-girdle muscular dystrophy Description 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. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper
[PDF File]Duchenne Muscular Dystrophy Fact Sheet
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Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy. It is a genetic disorder characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Duchenne affects approximately 1 in 5,000 live male births. It is estimated that about 20,000 children are diagnosed with
[PDF File]Duchenne Muscular Dystrophy and Becker Muscular Dystrophy CDE Revision ...
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Duchenne Muscular Dystrophy and Becker Muscular Dystrophy CDE Revision History Document . DMD and BMD Revision History Document Version 3.0 Page 1 of 21 . Contents . ... F1807 General Core General Health History Demographics F1031 Demographics N/A Demographics
[PDF File]Malignant Hyperthermia and Muscular Dystrophies - University of Washington
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Various muscular dystrophies (MD) result from defects in the muscle DGC. DMD results from a complete deficiency of dystrophin, whereas a partial deficiency leads to BD. Deficiency in laminin leads to congenital muscular dystrophy and defec-tive glycosylation of the -dystroglycan leads to limb-girdle muscular dystrophy. BMD Becker muscular ...
[PDF File]LAMA2-related muscular dystrophy - MedlinePlus
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LAMA2-related muscular dystrophy Description LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form.
[PDF File]Tibial muscular dystrophy
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Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot.
[PDF File]Strength and Functional Measurement for Patients with Muscular Dystrophy
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Three parts of the measurement for muscular dystrophy are included: the strength decrease pattern, the common general functional scales, and the disease specific scale. This chapter places emphasis on patients with more weakness in proximal than distal parts. The most common type of proximal muscular dystrophy is Duchenne muscular dystrophy (DMD).
[PDF File]Muscular Dystrophy: A Walk in Their Shoes - Centers for Disease Control ...
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feels like to have muscular dystrophy through a modeling activity. They can then gain knowledge about the symptoms, prognosis, and treatment of muscular dystrophy through teacher presentation as well as Internet research. Finally, they explore ethical dilemmas associated with the muscular dystrophy and discuss various hypothetical situations.
[PDF File]Muscle Diseases: The Muscular Dystrophies - Stony Brook University Hospital
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increase muscle mass. The phenotype of muscular dystrophy is an endpoint that arises from a diverse set of genetic pathways. Genes associated with muscular dystrophies encode proteins of the plasma membrane and extracellular matrix, and the sarcomere and Z band, as well as nuclear membrane components. Because muscle has such
Living With Muscular Dystrophy: Sexual Education - Walden University
challenges individuals with muscular dystrophy (MD) face regarding sexual pleasure and intimacy. Humanistic psychology and the human rights theory provided the theoretical framework for this study. Using a qualitative multiple case study approach, 4 individuals with MD were asked what sexual education, if any, they received, and if they did receive
[PDF File]Clinical outcome measures for trials in Duchenne muscular dystrophy ...
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The International Duchenne muscular dystrophy Clinical Outcomes Working Group During the past decade significant progress has been made in development of candi-date drugs for the treatment of Duchenne muscular dystrophy (DMD). Perhaps the most notable of these are antisense oligonucleotides for exon skipping [1]. As candidate
[PDF File]Muscular Dystrophy - Virginia
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Muscular dystrophy is a group of genetic diseases in which muscle fibers are unusually susceptible to damage. These damaged muscles become progressively weaker. Most people who have muscular dystrophy will eventually need to use a wheelchair. There are many different kinds of muscular dystrophy. Symptoms of the most common variety begin in
[PDF File]Seminar Muscular dystrophies - The Lancet
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congenital muscular dystrophy is the most common form of congenital muscular dystrophy in Japan and is caused by a founder recessive mutation, whereas Ullrich congenital muscular dystrophy is the most frequent type in most other countries for which data are available. Laminin α2-defi cient congenital muscular dystrophy,
[PDF File]Summary of Core Recommendations: Duchenne Muscular Dystrophy / Becker ...
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Summary of Core Recommendations: Duchenne Muscular Dystrophy / Becker Muscular Dystrophy CDEs Duchenne Muscular Dystrophy / Becker Muscular Dystrophy CDEs - Last Modified 01/09/2020 Page 1 of 6 ... Demographics Ethnicity USA category C00020 All studies Participant Characteristics; Demographics Race USA category C00030 All studies
[PDF File]Cardiac Complications of Duchenne Muscular Dystrophy - Capricor
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Duchenne muscular dystrophy and the heart • Duchenne muscular dystrophy: Overview • Cardiomyopathy of DMD – Heart muscle – Electrical system ... Demographics – Mean age: 14.3 years – All patients were on corticosteroids – ~ 80% of patients were non- ambulant.
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