Results 201 to 210 of about 206,878 (242)
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Oculopharyngeal muscular dystrophy: the muscular dystrophies
2001Abstract Sweden, Switzerland, Czech Republic, Taiwan, United Kingdom, United States, Uzbekistan, Uruguay and Yugoslavia. However, OPMD is particularly prevalent in the French–Canadian population (1 1000) and in Bukhara Jews living in Israel (1: 600) (Blumen et al. 1997; Brais et al. 1995).
Bernard Brais, Fernando M S Tomè
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Sarcoglycans in muscular dystrophy
Microscopy Research and Technique, 2000Muscular dystrophy is a heterogeneous genetic disease that affects skeletal and cardiac muscle. The genetic defects associated with muscular dystrophy include mutations in dystrophin and its associated glycoproteins, the sarcoglycans. Furthermore, defects in dystrophin have been shown to cause a disruption of the normal expression and localization of ...
A A, Hack, M E, Groh, E M, McNally
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Facioscapulohumeral muscular dystrophy
Current Opinion in Neurology, 2009Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front.The present brief review highlights some recent studies on the pathogenesis of facioscapulohumeral muscular dystrophy pointing to major involvement of muscle ...
Padberg, G.W.A.M., Engelen, B.G.M. van
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The Diagnosis of Muscular Dystrophy
Pediatric Annals, 2005Pediatricians should be familiar with the common presenting signs and symptoms of MD so that they can make a clinical diagnosis of possible MD based on the patient's medical history, a physical examination, and a CK screen. Appropriate referral to a neuromuscular specialist will then enable the precise diagnosis of MD to be made with definitive ...
Ashraf A, El-Bohy, Brenda L, Wong
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Children with muscular dystrophy
The Journal of Pediatrics, 1956Summary A study of 185 children and youthreported with muscular dystrophy to the New York City register revealed that 130 could be located. Of the 130 located children, 113 had muscular dystrophy, of whom 100 were still alive. The study of the 100 surviving children with muscular dystrophy revealed that as a group there is considerable need for ...
H M, WALLACE, M, LENDING, H, RICH
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Facioscapulohumeral Muscular Dystrophy
Comprehensive Physiology, 2017ABSTRACT Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities.
DeSimone, Alec M. +3 more
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2011
Distal muscular dystrophies are a group of inherited primary muscle disorders showing progressive weakness and atrophy preferentially in the hands, forearm, lower legs, or feet. Extensive progress in understanding the molecular genetic background has changed the classification and extended the list of confirmed entities to almost 20 different disorders,
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Distal muscular dystrophies are a group of inherited primary muscle disorders showing progressive weakness and atrophy preferentially in the hands, forearm, lower legs, or feet. Extensive progress in understanding the molecular genetic background has changed the classification and extended the list of confirmed entities to almost 20 different disorders,
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Congenital muscular dystrophies
Current Opinion in Neurology, 1995Considerable advances in the understanding of congenital muscular dystrophy made during the past year may allow a new clinical classification of this disease. In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency causes a type of congenital muscular dystrophy, and (2) it ...
K, Arahata, H, Ishii, Y K, Hayashi
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Oculopharyngeal muscular dystrophy
2010Publisher Summary Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is usually transmitted as an autosomal dominant trait and a rarer allelic autosomal recessive form has also been ...
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A Review of Muscular Dystrophies
Anesthesia ProgressMuscular dystrophy encompasses a group of genetic conditions with progressive muscle damage and weakness. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders that affect the production of the protein dystrophin.
Tiffany, Hoang, Regina A E, Dowdy
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