CDKL5 Disorder

Also known as

CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control, seizures, and severe neuro-developmental impairment. CDKL5 is classed as a rare disease, however more and more children and indeed adults are being diagnosed every day.

Condition details

Most children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined to wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties. As time has gone on it appears that there might be other symptoms that play a role in the condition.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Seizure presenting in first few months of life

Affected genes identified to date

Inheritance patterns

Is X-linked

Are carriers affected?

How many are affected?

100-150 UK

Support groups and organisations

Mrs Carol-Anne Partridge
CDKL5 UK
5 Thorne Lane
Yeovil
Somerset
BA21 3LU
UK
Tel
Facebook

Known experts

No experts found

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