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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.
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
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.
Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, an increased proportion of type 2 muscle fibers, which additionally exhibit increased size, as well as dysharmonic skeletal maturation.
The first type is the congenital type known as early onset LAMA2 congenital muscular dystrophy type 1A or MDC1A. It presents at birth and has a relatively severe clinical presentation. Characteristically it manifests in muscle weakness, hyperlaxity or hypotonia, respiratory difficulties and developmental delay. [1] [4]
The first features of the syndrome start off with feeding difficulties, constant irritability, frequent vomiting, and hypotonia. [11] [6] [10] The second manifestations of this condition are frequent seizures whose type can vary between patients, but usually consist of tonic-clonic seizures. These usually start sometime during the baby's first ...
Individuals with this condition typically show severe intellectual disability, motor delays, severe speech delay and difficulties, infancy-onset hypotonia affecting the trunk, progressive hypertonia affecting the distal limbs, severe progressive microcephaly, autistic-like symptoms, aggressive behavior towards others and/or oneself, sleep abnormalities, and mild facial dysmorphisms such as a ...
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 ...