![]() Physical therapy to stretch the muscles to prevent mass loss or stiffness.Occupational therapy to help with daily activities.While there are no treatments for the disease, some solutions may help to manage symptoms. Study of the nerve condition through electrodes.Biopsy of a nerve, found within the calf.Genetic testing, commonly done through a blood sample.Tests, which can determine the level of nerve damage, include: If you are unsure if you carry the mutated gene and are experiencing symptoms associated with Charcot-Marie-Tooth disease, your doctor can do a variety of tests to establish a diagnosis. ![]() With time, the disease can cause a weakness or decreased sensation in other parts of the body, such as the upper extremities and upper portions of the leg. Weakness or decreased feeling in the legs, feet and ankles.Signs of Charcot-Marie-Tooth disease include: Symptoms may occur in adolescence, while some individuals will begin to experience symptoms later into adulthood. Symptomsĭepending on the gene mutation, the severity of symptoms can vary. ![]() The mutated gene affects how the nerves within the legs and arms are structured and developed, and in severe cases, there is a disconnect between the brain signal and nerve endings, which can cause difficulty in movement or an inability for the brain to process sensations in the arms, hands, feet or legs. CausesĬharcot-Marie-Tooth disease is hereditary, which means it is passed through the genes within a family. Charcot-Marie-Tooth disease affects the motor nerves, which are responsible for muscle movement and contractions, while sensory nerves enable an individual to determine how something feels when it is touched. The name of the condition is derived from the last names of the three doctors who discovered the hereditary disease, which can also be referred to as hereditary motor and sensory neuropathy, or HMSN. We propose that altered endosomal trafficking due to malformations of MVBs and subsequent atypical signaling kinetic may account for a toxic gain of function in CMT1C pathogenesis.Despite the name, Charcot-Marie-Tooth disease affects the motor and sensory nerves throughout the legs and arms. The aberrant kinetics we observed in inflammatory signaling may contribute to increased tumor susceptibility and changes in the levels of chemokines/cytokines that result from CMT1C mutation. Upon stimulation with interkeukin-1 or transforming growth factor β, prolonged activation of p38 kinase/JNK is detected, while nuclear accumulation of NF-κB and phosphorylation of SMAD2 is reduced with CMT1C mutation. We further uncover increased colocalization of ubiquitin ligase TRAF6 and Hrs in late endosomes. Here, we show that MVB defects found in mutation but not deletion of SIMPLE lead to impaired turnover and accumulation of ESCRT-0 protein Hrs puncta in late endosomes. ![]() MVB defects of mutation and deletion of SIMPLE, however, are distinct. SIMPLE is also clinically important and its mutation accounts for the Charcot-Marie-Tooth type 1C (CMT1C) disease. Within these pathways, we recently demonstrated that the protein SIMPLE is a novel player in MVB regulation. Ubiquitin adaptors, along with endosomal sorting complex required for transport (ESCRT) complexes, are also integrated to terminate ligand-receptor activation in late endosomes and multivesicular bodies (MVBs). Endosomal trafficking is a key mechanism to modulate signal propagation and cross talk. ![]()
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