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Severe muscular hypotonia
- ... and Ullrich congenital muscular dystrophy is the most severe.People with Bethlem muscular dystrophy usually have low muscle tone (hypotonia) in infancy. Muscle weakness can begin at any ...
- ... to weakened heart and breathing muscles.The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These ...
- ... congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants may have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures). Weakness ...
- ... congenital muscular dystrophy can vary from mild to severe.Fukuyama congenital ... muscle tone (hypotonia). Weakness of the facial muscles often leads to ...
- ... are caused by mutations in other genes.Spinal muscular atrophy type 0 is ... muscle tone (hypotonia) at birth. Their respiratory muscles are very weak ...
- Williams Syndrome (Genetic and Rare Diseases Information Center)Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic and Rare Diseases Information Center ...
- Incontinentia Pigmenti (Genetic and Rare Diseases Information Center)Skin Pigmentation Disorders/Specifics ... Skin Pigmentation Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find ...
- ... J, Deconinck N. Novel LMNA mutation presenting as severe congenital muscular dystrophy. Pediatr Neurol. 2010 Oct;43( ...
- Gastrointestinal System and Down Syndrome (National Down Syndrome Society)Down Syndrome/Related Issues ... Down Syndrome ... National Down Syndrome Society ... Gastrointestinal System and Down Syndrome
- ... muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting ... tone (hypotonia) and are sometimes described as "floppy." The muscle ...