Symptoms, Diagnosis & Treatments
- Reduced muscle tone as early as the first 6 months of life
- Eye problems;
- Impaired vision.
- Nystagmus, defined as the rapid rhythmic (involuntary) movement of the eyes.
- Eyes lie deep within the patient’s sockets, with a greater-than normal space in between them, and
- although less frequent, cataract formation and increased eyeball pressure.
- Impairments in balance and movement coordination due to neurological abnormalities
- Either an increased tendency to bleed, or on the contrary excessive blood clot formation
- Increased thickening of the skin, leading to dry and flaky skin
- Heart abnormalities have also been documented in rare cases
Diagnostic tests for SRD5A3-CDG include:
- Serum transferrin analysis, also called Carbohydrate Deficient Transferrin (CDT) analysis; a first-line screening blood test for congenital disorders of glycosylation. In some SRD5A3-CDG patients, transferrin analysis results appear normal
- Genetic testing to identify mutations in the SRD5A3 gene using sequencing technology such as whole exome sequencing or whole genome sequencing.
SRD5A3-CDG is inherited in an autosomal recessive fashion, meaning that in order for your child to be affected, both you and your partner must be carriers for the condition. If you find out that you and your partner are carriers through genetic testing, there is a 25% chance of your child acquiring the disorder.
While there are no specific treatments available for SRD5A3-CDG, counselling can be provided once risk is identified at earlier stages. Specific symptoms, such as some of the eye problems and blood clotting problems may be treated. In general, care for CDG patients involves disease management through a combination of physical therapy, occupational therapy such as speech or vision therapy, and/or palliative measures.