OGT-CDG
Is a rare, X-linked inherited condition. Affected males often present with global developmental delay and intellectual disability, other variable neurologic features, and more rarely other symptoms like hypotonia, epilepsy, seizures, connective tissue disorders, genital variations, or ulcerative colitis.
Symptoms
OGT-CDG is X-linked, and so may present differently in males and females. Females with an OGT variant are often unaffected. All male patients with OGT-CDG present with global developmental delay and intellectual disability, often impacting development of speech and language. Other features of OGT-CDG are highly variable. Some patients may have other variable neurologic features like Autism Spectrum Disorder (ASD), Attention-Deficit Hyperactivity Disorder (ADHD), or a small head size (microcephaly), eye abnormalities like astigmatism, or subtle facial differences. More rarely, patients have presented with drooling, open mouth, low muscle tone (hypotonia), epilepsy, seizures, connective tissue disorders, genital variations, or ulcerative colitis.
Diagnosis
OGT-CDG is ultimately diagnosed through genetic testing in blood. Individuals with OGT-CDG have one non-working copy of the OGT gene.
Treatment and Prognosis
There are no known treatments for OGT-CDG. Due to the rarity of the disease, there is no clear prognosis.