Symptoms, Diagnosis & Treatments

The clinical manifestations of SRD5A3-CDG include:

  1.  Reduced muscle tone as early as the first 6 months of life.
  2.  Eye problems;
    • Impaired vision.
    • Nystagmus of the eye, 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.
  3. Impairments in balance and movement coordination due to neurological abnormalities.
  4. Either an increased tendency to bleed, or on the contrary excessive blood clot formation.
  5. Increased thickening of the skin, leading to dry and flaky skin (coined clinically as “Ichthyosis”).
  6. Finally, although rare, heart abnormalities have also been documented.

Diagnostics to test for this condition include conducting a TIEF to assay for transferrin levels in the blood, an indicator of CDG in general. Genetic testing to identify the numerous deleterious mutations that may occur within the SRD5A3 gene using sequencing technology also confirms clinical diagnosis.

The disorder is also inherited in an autosomal recessive fashion. This means that in order for your child to be afflicted with the disease, both you and your partner must be carriers for the condition. By genetic testing, if you find out that you and your partner are carriers, then 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 (surgically) and coagulation disorders can also 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.