Layer two
Diagnosis-led treatment
A separate category from both rehabilitation and the treatments sold to families. These are real, licensed, disease-modifying medicines — and every one of them depends on knowing the exact genetic cause first.
The genetic test that might reveal a licensed treatment is considerably more likely to change the clinical course than a method that has not yet entered routine practice. Diagnostic assessment is therefore the priority step.
Nörogender — the Association for Neurological and Genetic Diseases — supports diagnosis, treatment and research in genetic neurological conditions of childhood, and maintains its own section on gene-targeted treatments and the current pipeline. norogender.org (in Turkish) ↗
Getting a precise diagnosis
For a family weighing newer treatment options, this is almost always the first step. A molecular diagnosis can open the door to a licensed medicine — or definitively rule one out.
Exome and genome sequencing, panels, metabolic work-up, MRI
Established careGene-targeted treatments
The genuinely transformative development in paediatric neurology — and it is strictly conditional: these treatments work for named genetic diagnoses and do nothing at all without one.
Antisense oligonucleotides, gene replacement, enzyme replacement, targeted small molecules