CHAMP1 UK
by Eleanor Churchill / 76 views
CHAMP1 UK is a charity who provide information, support and advice for individuals affected by CHAMP1 disorders, as well as their families and carers and professionals.
CHAMP1, short for CHromosome Alignment-Maintaining Phosphoprotein 1, is an ultra-rare genetic neurodevelopmental disorder caused by a mutation in the CHAMP1 gene, part of chromosome 13.
CHAMP1 was only discovered in 2015 and as of 2024 there are less than 160 known diagnoses worldwide. This puts the chance of having CHAMP1 at roughly 1 in 52 million.
CHAMP1 manifests differently along the spectrum of symptoms and severity. In most cases, features of CHAMP1 appear early in life and can evolve with age.
Symptoms can include:
• Epilepsy & Seizures
• Atypical neurological behaviour (i.e. stereotypy, anxiety, ADHD)
• Decreased sense of pain
• Ataxia (impaired muscle control, coordination & movement)
• Autism spectrum disorders (ASD)
• Gross & fine motor delays or disabilities
• Speech and language delays, loss or disabilities
• Hypotonia, Hypermobility and Hyperextensibility (decrease muscle tone and joints that have an increased range of motion)
• Microcephaly (small head size)
• Eye abnormalities (i.e. nystagmus, strabismus, hyperopia, myopia, amblyopia, coloboma)
• Gastroesophageal reflux (GERD)
• CVS (Cyclical Vomiting Syndrome)
• Hearing abnormalities
• Facial structure abnormalities & dental issues
- Listing ID: 11930