3. CMT Type 3 (CMT3): Dejerine-Sottas Disease
Dejerine-Sottas Disease, or CMT3, is a particularly rare and severe form of Charcot Marie Tooth disease. It stems from genetic mutations that affect both the axons and the myelin sheath of the nerve fibers. Due to its early onset, often within the first two years of life, it’s also termed “congenital hypomyelinating neuropathy.”
Children with CMT3 frequently present early symptoms like pronounced muscle weakness and delayed motor skills development, making it challenging for them to stand or walk without aid. As the child grows, the disease’s effects intensify, affecting upper limb functionality, making daily activities increasingly difficult.
Apart from early onset, CMT3 is marked by its aggressive progression. Motor and sensory nerve issues are pronounced, with sensory loss often leading to unperceived injuries.
There’s a significant decrease in nerve conduction velocity, indicative of severe demyelination. Given its severity, CMT3 often necessitates the use of assistive devices early on, such as braces or even wheelchairs.
Occupational therapy is equally crucial, enabling children to develop fine motor skills and maintain some degree of independence in their daily lives. Regular medical assessments can preemptively address potential complications, making life a tad easier for affected individuals and their families. (3)
