limb-girdle muscular dystrophy

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Noun1.limb-girdle muscular dystrophy - an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages
dystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
References in periodicals archive ?
Similar fatty infiltration distribution patterns, predominantly involving the posterior compartment of the thigh, were also reported in mitochondrial diseases [20] and limb-girdle muscular dystrophy (LGMD).
5m Seed Financing to Clinically Advance Limb-Girdle Muscular Dystrophy Gene Therapies
Muscular dystrophies are clinically divided into six types as Duchenne (DMD), Becker (BMD), Limb-girdle (LGMD), Congenital (CMD), Facio-Scapulo-Humeral Muscular dystrophy (FSHMD), distal myopathies and myotonic dystrophy (MD).
MADD is a heterogeneous metabolic disorder that can induce limb-girdle weakness with onset ranging from infantile to adult age.
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G.
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies.
Baggins Foundation for Limb-Girdle Muscular Dystrophy: ?
Genetic defects in the gene that codes for the protein result in two types of muscular dystrophy: Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMDI).
This is an important step toward accomplishing our mission of finding a therapy for Limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy (LGMD2B/MM).
The new technique, which was initially developed at the San Raffaele Scientific Institute of Milan and completed at UCL, could be used in the future for treating patients with limb-girdle muscular dystrophy (a rare form in which the shoulders and hips are primarily affected) and, possibly, other forms of muscular dystrophies.
But Gillespie, who was diagnosed with limb-girdle muscular dystrophy at the age of 17, found that more than five years of arduous labor began to take a toll on his weakening limbs, so he transitioned into sales, where, he said, he quickly became one the top sales producers in the Arkansas-Louisiana district.
During hospital day 1, the patient experienced hypophonia, complete ophthalmoplegia, bilateral ptosis (right more than left), pupils unresponsive to light, dysphagia, and bilateral limb-girdle muscular weakness.