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Hypotonia is a state of low muscle tone [1] (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength.
Very mild: Fluctuating mild hypotonia, oral feeding possible: Close observation and breastfeeding support Mild: Persistent or intermittent hypotonia, feeding difficulties: Consider low-dose acetylcholinesterase inhibitor (e.g., neostigmine or pyridostigmine) before feeding if results of a pharmacological challenge test are positive Moderate
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 ...
The disorder may be accompanied by autism, [1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls ( macrocephaly ) than is normal for their age.
Signs and symptoms of CTLN1 in infants are caused by increasing levels of ammonia in the blood and cerebrospinal fluid and include excessive vomiting, anorexia, refusal to eat, irritability, increased intracranial pressure, and worsening lethargy, seizures, hypotonia, respiratory distress, hepatomegaly, and cerebral edema. These symptoms appear ...
Mild to moderate intellectual disability and mild to severe developmental delay are often associated with Kabuki syndrome. [ 3 ] [ 4 ] [ 6 ] Infants and young children often experience difficulties relating to hypotonia, feeding issues/failure to thrive, infections, surgical repair of heart and palate defects and developmental delays.
The weakness is indicated as hypotonia, or lack of muscle tone, which can make an infant seem unstable. [1] [5] Eventually, most patients develop joint contractures or fixed joint deformities. [6] Children may be slow with their motor skills; such as rolling over, sitting up or walking, or may not even reach these milestones of life. Some of ...
Affected infants appear normal at birth but may develop symptoms during the first year of life. Individuals with Salla disease may present with nystagmus as well as hypotonia, and may have difficulty coordinating voluntary movements (), reduced muscle tone and strength, and cognitive impairment. [5]