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Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy , is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful.
Infant botulism (also referred to as floppy baby syndrome) was first recognized in 1976, and is the most common form of botulism in the United States. Infants are susceptible to infant botulism in the first year of life, with more than 90% of cases occurring in infants younger than six months. [ 4 ]
In infants, some babies may be hypotonia, a loose and floppy baby, or hypertonia, a stiff and rigid baby. Toddlers may have trouble feeding themselves or may stand, sit or walk later than what is developmentally normal. Other signs of motor skills disorders may be children that are clumsy or have excessive accidents, such as knocking things over.
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However, the toxin can also be introduced through an infected wound. In infants, the bacteria can sometimes grow in the intestines and produce botulinum toxin within the intestine and can cause a condition known as floppy baby syndrome. [87] In all cases, the toxin can then spread, blocking nerves and muscle function.
Fragile X syndrome is a genetic disorder which occurs as a result of a mutation of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome, most commonly an increase in the number of CGG trinucleotide repeats in the 5' untranslated region of FMR1.
Laryngomalacia (literally, "soft larynx") is the most common cause of chronic stridor in infancy, in which the soft, immature cartilage of the upper larynx collapses inward during inhalation, causing obstruction of the airways.
There is an ultra-rare, fatal infantile-onset phenotype that results in profound muscle weakness ("floppy baby") and respiratory failure within weeks of birth (perinatal asphyxia). Post-mortem biopsy showed a deficiency of myophosphorylase and abnormal glycogen accumulation in skeletal muscle tissue.