Emergency?This website is not monitored for urgent care.Read emergency guidance

Condition information

Neurogenetic disorders

Neurogenetic conditions result from genetic changes that affect the brain, spinal cord, nerves or muscles.

What families may notice

  • Developmental delay, regression or epilepsy
  • Unusual movement, tone, growth or head-size patterns
  • A family history or combination of unexplained neurological features

How assessment may help

Testing is selected after clinical assessment. Results may be uncertain and should be explained with genetic counselling where appropriate.

The child’s own pattern matters. Similar symptoms can have different causes, and tests are selected only after considering the history and examination.

What to bring

  • A referral letter and previous medical reports
  • A current medicine and dose list
  • EEG, MRI or CT reports and the actual images where available
  • School or therapy reports relevant to the concern
  • Safe phone videos of typical episodes, without delaying care or placing the child at risk

Planning the next step

Contact the practice for a non-urgent appointment request. Sudden, severe or rapidly worsening symptoms should be assessed through an emergency service rather than an online form.

WhatsApp