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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.
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.
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.
Hypotonia can present clinically as muscle flaccidity, where the limbs appear floppy, stretch reflex responses are decreased, and the limb's resistance to passive movement is also decreased. [1] Hypertonia is seen in upper motor neuron diseases like lesions in pyramidal tract and extrapyramidal tract.
Hypotonia or atonia – Tone is not velocity dependent. Hyporeflexia - Along with deep reflexes even cutaneous reflexes are also decreased or absent. Strength – weakness is limited to segmental or focal pattern, Root innervated pattern [clarification needed] The extensor plantar reflex (Babinski sign) is usually absent. Muscle paresis ...
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA) was a suggested name for this syndrome, however, ReNU syndrome (pronounced 'renew') was chosen through a collaboration between researchers and the families of those impacted by variants in RNU4-2. The name symbolises that this ...
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. [1]
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.