What is Infantile Axial Hypotonia (low muscle tone in an infant)?
Infantile Axial Hypotonia is very low muscle tone, affecting the trunk of the body, with onset in infancy or at birth.
In extreme cases this low muscle tone may impact on the ability of an infant to breathe without difficulties and on their ability to feed.
Understanding muscle-related symptoms and features
Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome.
The muscular system contains three muscle types: cardiac, smooth and skeletal. The muscular system affects multiple parts and functions of the body including movement, balance, stability and posture, circulation, respiration, digestion, urination and childbirth.
Symptoms affecting the muscles can not for the most part be seen with the naked eye. Diagnosing a muscle-related symptom may involve different tests and assessments, both subjective and objective.
Symptoms relating to the muscles may affect their function and tone. They may also affect the structure of the muscles, regardless of how big or small (macro and/or microscopically) this change in the structure might be.
What should I do next?
In some instances, low muscle tone in an infant may be one of the features of a rare disease or genetic syndrome. To find out if someone with Infantile Axial Hypotonia, may be due to a genetic syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.