Charcot-Marie-Tooth (CMT) Disease

Charcot-Marie-Tooth (CMT) disease is a group of inherited neurological disorders that primarily affect the peripheral nerves, leading to progressive muscle weakness, sensory loss, and foot deformities. Named after the three physicians who first described it in 1886, CMT is one of the most common hereditary neuropathies. The presentation outlines its major subtypes—demyelinating (e.g., CMT1), axonal (e.g., CMT2), and intermediate forms—each characterized by unique pathological and clinical features. It also discusses genetic mutations in PMP22, MPZ, MFN2, and other genes, and explains the inheritance patterns involved. Diagnosis relies on clinical evaluation, nerve conduction studies, and genetic testing, while current management focuses on symptomatic relief through physical therapy, orthotic support, and, in some cases, surgical intervention.

The presentation further explores emerging regenerative therapies, particularly Precursor (Progenitor) Stem Cell Therapy and Mito Organelles treatments. These personalized approaches aim to restore nerve function, repair tissue, and improve quality of life in CMT patients. By bridging conventional understanding with next-generation therapies, this presentation provides a comprehensive view of CMT and underscores the potential of bioregenerative medicine in managing neurodegenerative conditions.