CDKL5 deficiency disorder
CDKL5 Deficiency Disorder
CDKL5 Deficiency Disorder (CDD), pronounced as /ˈsiːˈdiːˈkeɪˈelˈfaɪv dɪˈfɪʃənsi dɪsˈɔːdər/, is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment.
Etymology
The term CDKL5 is an acronym for Cyclin-Dependent Kinase-Like 5, a gene located on the X chromosome that provides instructions for making a protein essential for normal brain development. Deficiency Disorder refers to the lack or insufficiency of this protein.
Symptoms
Symptoms of CDKL5 Deficiency Disorder typically begin in infancy and may include early onset of seizures, severe learning disabilities, limited or absent speech, hand-wringing movements, and slow physical growth.
Diagnosis
Diagnosis of CDKL5 Deficiency Disorder is typically confirmed through genetic testing that identifies mutations in the CDKL5 gene.
Treatment
Treatment for CDKL5 Deficiency Disorder is symptomatic and supportive, focusing on managing seizures and physical and developmental disabilities.
Prognosis
The prognosis for individuals with CDKL5 Deficiency Disorder varies. Some individuals may have a normal lifespan with proper management of symptoms, while others may experience life-threatening complications.
Related Terms
External links
- Medical encyclopedia article on CDKL5 deficiency disorder
- Wikipedia's article - CDKL5 deficiency disorder
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