Charcot (shahr-KOH)-Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in the arms and legs (peripheral nerves). Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy. Charcot-Marie-Tooth disease results in smaller, … See more Signs and symptoms of Charcot-Marie-Tooth disease may include: 1. Weakness in your legs, ankles and feet 2. Loss of muscle bulk in your legs and feet 3. High foot arches 4. Curled toes (hammertoes) 5. Decreased ability … See more Complications of Charcot-Marie-Tooth disease vary in severity from person to person. Foot abnormalities and difficulty walking are usually … See more 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. … See more Charcot-Marie-Tooth disease is hereditary, so you're at higher risk of developing the disorder if anyone in your immediate family has the disease. Other causes of neuropathies, such as diabetes, may cause symptoms … See more WebCri du chat syndrome is rare. It is caused by a missing piece of chromosome 5. Most cases are believed to occur during the development of the egg or sperm. A small number of cases occur when a parent passes a different, rearranged form of …
Charcot-Marie-Tooth disease - Symptoms and causes
WebRare diseases are not rare. About 30 million people in the U.S. are affected by a rare disease. As you and your caregivers adjust to a rare disease diagnosis, it is normal to be flooded with a wide range of emotions. Navigating unexpected challenges, coordinating care, and handling financial concerns may feel overwhelming. WebCri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high … graeme thorpe cricket
About Cri du Chat Syndrome - Genome.gov
WebAbout The 5P- Society. 5p- Syndrome is a chromosomal deletion disorder resulting in a wide spectrum of intellectual and developmental abilities. Each year in the United States, approximately 50 to 60 children are born with 5p- Syndrome, also known as Cri du Chat Syndrome. These individuals will likely need a lifetime of support. WebMay 25, 2024 · Diagnosis. Treatment. Cri du Chat Syndrome (French for "cat cry") is a rare chromosomal disorder caused by missing or deleted portions of chromosome 5. Infants who are born with the syndrome often have a high-pitched cry that sounds like a cat, hence the condition's name. Since the condition occurs due to missing portions of the short arm (p ... graeme thorne documentary