What is CMT 1X?
Charcot-Marie-Tooth type 1X (CMT1X) disease is inherited as an X-linked dominant trait. Female CMT1X patients are usually mildly affected or even asymptomatic carriers of mutations in the GJB1 gene coding for a gap junction protein called connexin-32 (Cx32).
What is Charcot-Marie-Tooth type 1d?
Charcot-Marie-Tooth disease type 1 (CMT1) is a type of peripheral neuropathy , a condition affecting the transmission of information between the central nervous system (brain and spinal cord) and the rest of the body. Symptoms often begin between age 5 and 25, and the condition is usually slowly progressive.
Can CMT be mild?
The truth is, there is nothing mild about CMT. Although the disease is not typically fatal, it creates a lifetime of pain and immobility, often forcing individuals and families to live in fear of what their future holds.
How do you get Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease is an inherited, genetic condition. It occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands and arms. Sometimes, these mutations damage the nerves. Other mutations damage the protective coating that surrounds the nerve (myelin sheath).
Is CMT a progressive?
The symptoms of CMT usually start to appear between the ages of 5 and 15, although they sometimes do not develop until well into middle age or later. CMT is a progressive condition. This means the symptoms slowly get worse, making everyday tasks increasingly difficult.
What is the enfermedad of Charcot Marie Tooth?
La enfermedad de Charcot-Marie-Tooth (CMT) es un grupo de enfermedades que afectan los nervios periféricos, los nervios que corren por fuera del cerebro y la médula espinal. Defectos en por lo menos 40 genes causan los diferentes tipos de la enfermedad.
Who is the GARD Information Specialist for Charcot Marie Tooth?
Please reach out to a GARD Information Specialist at 301-251-4925. Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves.
How old do you have to be to have Charcot Marie Tooth disease?
Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person.