Hypomyelination, Severe Congenital
Charcot-Marie-Tooth Disease Type 4E, Congenital Hypomyelinating Neuropathy, Congenital Hypomyelination Neuropathy, CMT4E, Autosomal Recessive Congenital Hypomyelinating/Amyelinating Neuropathy, CHN
Type of disease: Genetic, autosomal recessive | Congenital onset | Rare Condition or Disease
Charcot-Marie-Tooth disease type 4E is a rare genetic condition. Present at birth, it is characterized by low muscle tone, loss of reflexes, delayed motor development in infancy, respiratory difficulties, progressive weakness and degeneration of arm and leg muscles, foot abnormalities, and sensory loss. Prognosis depends on severity of the symptoms.
This condition is caused by changes in the EGR2 gene. These changes can be inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the altered gene to develop the condition, one from each parent. That means that each parent typically carries one copy of the altered gene, but they do not develop the condition because they also have a second, functional copy of that gene.
This condition is diagnosed by physical examination, electrophysiological testing, and genetic testing. There is currently no cure for this condition, but ways to manage the condition’s specific symptoms include medication, physical and occupational therapies, braces, other orthopedic devices, and surgery. Doctors also seek help from various therapists and community services to provide support and care for individuals with this condition. Support groups are also good resources of support and information and can help connect you with other individuals affected by Charcot-Marie-Tooth disease type 4E.