Symptoms can include, but are not limited to: developmental delay/disability, hypotonia, movement disorders, feeding intolerances, hyperactivity, expressive speech and language delay, seizures, and autistic-like behavior. It is encouraged that an individual with any of these presentations be screened for CCDS as early as possible.
Proper diagnosis and early intervention is critical to establish treatments needed to improve life quality and longevity for the CCDS patient. If you suspect that your child might have a CCDS, discuss symptoms and screening with your child’s doctor.
Initial screening for CCDS is noninvasive and is possible by measuring guanidinoacetate (GAA), creatine (Cr), and creatinine (Crn) in plasma and urine. Follow up genomic testing and brain MRI with spectroscopy may be ordered to confirm CCDS diagnosis. For more information regarding CCDS screening, consult your child’s doctor.
Many pediatric neurologists and geneticists are able to perform initial CCDS screening. If your child is experiencing CCDS symptoms, talk to your primary care provider or pediatrician about consulting a child neurologist or geneticist.
CCDS patients are frequently misdiagnosed with cerebral palsy as infants and toddlers. Children are often misdiagnosed with autism or developmental delay. If your child has been diagnosed with cerebral palsy, failure to thrive, developmental delay/disability, Autism or Mitochondrial disorder, you might want to consider screening for CCDS.