[1] Jeffrey Allen, the winner of the 2024 Prime Video series ‘Beast Games’ has publicly stated that he will use the money won ($10,000,000) to attempt to find a cure for his son, who has this rare disease.

[5] However, several studies have shown a wider variety of symptoms including, but not limited to attention deficit and hyperactivity with impulsivity, myopathy, hypotonia, semantic-pragmatic language disorder, oral dyspraxia, extrapyramidal movement disorder, constipation, absent speech development, seizures, and epilepsy.

[2][3] Heterozygous females more commonly express mild intellectual disability, impairments to confrontational naming and verbal memory, and learning and behavior problems.

[7][8] The creatine phosphate system is needed for the storage and transmission of phosphate-bound energy in the brain and muscle.

The brain and muscle have particularly high metabolic demands, therefore, making creatine a necessary molecule in ATP homeostasis.

[13] The diagnosis of CTD is usually suspected based on the clinical presentation of intellectual disability, abnormalities in cognitive and expressive speech, and developmental delay.

Furthermore, a family history of X-linked intellectual disability, developmental coordination disorder, and seizures is strongly suggestive.

[14] Initial screening of CTD involves obtaining a urine sample and measuring the ratio of creatine to creatinine.

[8] A more reliable and sophisticated manner of testing for cerebral creatine concentrations is through in vivo proton magnetic resonance spectroscopy (1H MRS).

This method of testing is more reliable because it provides a fairly accurate measurement of the amount of creatine inside the brain.