Diagnosis & Treatment

How to identify DHDDS and how to treat it

Researcher working with microplate panel for diseases diagnosis in the laboratory. Doctor working with microplate for elisa analysis

Diagnosis of DHDDS

Identification of DHDDS mutations tends to be made either via whole exome sequencing (WES) or whole genome sequencing (WGS). Your medical professional should order these genetic tests if they suspect your symptoms may be caused by a genetic mutation such as the DHDDS mutations.


Treatment of DHDDS

Doctors and scientists are working hard to find and create more specific treatments but currently there is no cure for the DHDDS gene mutations.
We want to help change this by growing our DHDDS community and building relationships with scientists and researchers working in this field. There is also hope that through drug repurposing or new treatments we could find a way of replacing the abnormal metabolites with the right ones or avoid lipidic storage in neurons, so that individuals can see an improvement in overall symptoms. RNA therapy could also hold promise for helping treat or even one day cure the DHDDS mutations.

Female nurese testing a  balance of a senior woman  at home.
In the meantime, symptom specific therapies can be given such as seizure medication, speech and language therapy, and OT and physical therapy.