Anatom3DFragile X syndrome
Syndroma fragilis X · Syndrom fragilního X
What it is
The commonest inherited cause of intellectual disability, from an expanded repeat that silences the FMR1 gene; boys are more affected than girls.
Symptoms & signs
- Learning disability
- autistic features and anxiety
- hyperactivity
- long face and large ears
- flexible joints
- seizures in some
🚩 Get help if…
- call 112 / 911 now A fit lasting over 5 minutes
- see a doctor soon First fit or staring spells
- see a doctor soon Sudden change in behaviour, self-harm or aggression
- see a doctor soon Tremor or poor balance in an older carrier
Where it strikes
Medical treatment
- DNA test
- early intervention, speech and occupational therapy
- special education
- medicines for ADHD, anxiety or seizures
- genetic counselling for the family
Natural & lifestyle
- Structured routine
- sensory-friendly surroundings
Emerging & experimental
- Metformin trials
- zatolmilast (PDE4D inhibitor)
Alternative, off-label & anecdotal
Approaches used outside the guidelines, with what their supporters report and what testing has found so far.
- Minocycline — a small trial improved behaviour early / small studies
- L-acetylcarnitine — small trials in hyperactivity early / small studies
- Gluten- and casein-free diets — anecdotal anecdotal / traditional
ICD codes
- ICD-10 Q99.2
- ICD-11 LD55 Fragile X chromosome