The topic Charcot-Marie-Tooth Disease (CMT), Subtype 4E you are seeking is a synonym, or alternative name, or is closely related to the medical condition Congenital Hypomyelinating Neuropathy (CHN).

Quick Summary:

• Congenital Hypomyelinating Neuropathy (CHN) is a very rare, progressive, irreversible, and congenital (genetic) disorder that affects the nervous system
• Nerves from the brain and spinal cord that supply the muscles and organs are damaged at birth in those with CHN, causing neuropathy (nerve condition involving weakness and numbness)
• Individuals with this disorder produce little or no myelin, which is the biological insulator that enables nerves to send signals throughout the body
• Individuals with Congenital Hypomyelinating Neuropathy exhibit low muscle tone (hypotonia), muscle weakness associated with poor balance and coordination (ataxia), impaired movements and sensations in the arms and legs (neuropathy), and an absence of reflexes (areflexia)
• This genetic disorder is caused by mutations in two specific genes (MPZ and EGR2 genes) that promote myelin formation around the nerve cells
• Congenital Hypomyelinating Neuropathy has no cure or treatment; the condition is managed symptomatically through medications and physiotherapy
• The prognosis of CHN depends upon its severity. Individuals with milder forms (less neural damage) have a much better prognosis than those with severe forms (severe neural damage)

Please find comprehensive information on Congenital Hypomyelinating Neuropathy (CHN) regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.