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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. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of ...
In MDDS associated with mutations in TK2, infants generally develop normally, but by around two years of age, symptoms of general muscle weakness (called "hypotonia"), tiredness, lack of stamina, and difficulty feeding begin to appear. Some toddlers start to lose control of the muscles in their face, mouth, and throat, and may have difficulty ...
Most infants with CMD will display some progressive muscle weakness or muscle wasting , although there can be different degrees and symptoms of severeness of progression. The weakness is indicated as hypotonia, or lack of muscle tone, which can make an infant seem unstable.
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
PURA syndrome, also known as PURA-related neurodevelopmental disorder, is a rare novel genetic disorder which is characterized by developmental and speech delay, neo-natal hypotonia, failure to thrive, excessive sleepiness, epilepsy, and other anomalies.
Symptoms: Babies: weak muscles, poor feeding, slow development [2] ... More aspects seen in a clinical overview include hypotonia and abnormal neurologic function ...
Severe cases of CLA manifest in the neonatal period; milder cases caused by mtDNA mutations may not manifest until as late as early adulthood. Symptoms may be constant or brought on by an event causing stress, such as an asthma attack, seizure, or infection. Symptoms in the neonatal period include hypotonia, lethargy, vomiting, and tachypnea.
The symptoms of MICPCH include progressive microcephaly, hypotonia, intellectual disability, possible optic atrophy, motor disabilities, brainstem/cerebellar hypoplasia (), and, in forty percent of cases, epilepsy.
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