FAQs
How is CLTC-RD Diagnosed?
Genetic testing is the only way to confirm a CLTC-RD diagnosis. Mutations in the CLTC gene can be found through both genome and exome sequencing. Typically, patients have a constellation of symptoms and syndromic disorders that lead them to neurological and genetic testing. A CLTC-RD diagnosis is obtained when genetic testing shows a mutation (addition, deletion, or duplication) to the CLTC gene. These differences may be resulted as a known or suspected pathogenic variance, or as a variance of uncertain significance. A genetic counselor will work with you to understand why genetic testing is being recommended and how to interpret the results.
What are the most common symptoms?
CLTC-RD has a wide range of expressions and severities. Frequently, people with CLTC-RD have developmental delays, physical and facial differences, cognitive impairments, and neurological differences. Other symptoms of CLTC-RD include: Epilepsy, Gastrointestinal disorders, Autism Spectrum Disorder, low muscle tone, and processing disorders. CLTC-RD is believed to be a degenerative disorder. Early onset Parkinsonism has been noted, but due to the small sample size cannot yet be fully attributed to the disorder.
My Child was diagnosed with CLTC-RD...What do I do?
Learning that your child has a disorder is a lot to process. For some families, the news brings welcome answers after a lengthy "diagnostic odyssey" while other families feel overwhelmed that the answer has led to more questions. There is no right or wrong way to feel.
Speak to your genetic counselor to determine if there are additional healthcare professionals that you need to consult with. Understand that for the majority of professionals that work with your child, it will be the first case of CLTC-RD that they have ever treated, and they may not have any more information than you do.
Many families benefit from a support community for Rare Diseases such as NORD or disorder-specific groups.
Is there a cure for CLTC-RD?
There is not currently a cure or specific treatment to address CLTC-RD. Treatment focuses on the individual syndromes and disorders that the genetic mutation causes. Most patients benefit from a multidisciplinary team to address the constellation of challenges faced.
How many people have CLTC-RD?
CLTC-RD is a very rare disease. As of 2022 there are fewer than 30 documented cases. As genetic testing becomes more common and accessible it is expected that more cases will become known and we will begin to develop a more accurate understanding of how often the disorder occurs.