Hypotonia, or low muscle tone, can be caused by a variety of factors, including genetic conditions like Charcot-Marie-Tooth (CMT) disease. Because many other conditions can also cause hypotonia, a proper diagnosis from a medical professional is essential.

If you are concerned about hypotonia in a child, the best first step is to schedule an appointment with a pediatrician. The pediatrician can perform a physical exam, review the child’s medical history, and determine whether further testing is needed.

If CMT is suspected, the pediatrician may refer you to a neurologist or geneticist for further evaluation. These specialists can order additional tests, such as nerve conduction studies and genetic testing, to confirm or rule out a CMT diagnosis.

Treatment for CMT depends on the specific subtype and the severity of symptoms. In some cases involving CMT type 1A (caused by a duplication of the PMP22 gene), hypotonia may be present if the child also has a larger chromosomal change known as 17p11.2 duplication syndrome. This region includes PMP22 but also other genes, and the presentation can resemble Potocki-Lupski syndrome, which is associated with low muscle tone (hypotonia), swallowing difficulties (dysphagia), feeding problems, and slow growth.

While there is currently no cure for CMT, supportive treatments can help manage symptoms and improve quality of life. These may include physical therapy, orthotics (braces or other supports), and medications to manage pain and other symptoms.

As a child grows, symptoms may change and require ongoing management. Regular follow-up with medical professionals is important to monitor progress and adjust care as needed. For more information and support resources, visit our patient resources page.