Thelansis

Charcot-Marie-Tooth disease (CMT) is a group of disorders marked by nerve demyelination or axon degeneration, resulting in symptoms like muscle weakness, foot deformities, chronic pain, and impaired balance. These symptoms typically manifest after age 5, significantly impacting physical and emotional well-being. CMT arises from various gene mutations, with PMP22 gene mutations in 70-80% of CMT1 cases, often due to genetic duplications on chromosome 17. MPZ gene mutations account for 10-12% of CMT1 cases, with occasional involvement in other forms. CMT2 is mainly linked to MFN2 gene mutations (about 20% of cases), while CMTX primarily results from GJB1 gene mutations. Numerous other genes have also been identified in smaller subsets of individuals with CMT, expanding our understanding of the condition. Charcot-Marie-Tooth disease encompasses multiple types classified by their impact on nerve cells and inheritance patterns. CMT1 involves myelin abnormalities that slow nerve impulse trans...