What are the symptoms of CDKL5?

What are the symptoms of CDKL5?

What are the symptoms of CDKL5 disorder?

• Early-onset epilepsy.
• Impaired gross motor skills (such as walking)
• Impaired fine motor skills (such as grasping)
• Global developmental delays and intellectual disability.
• Impaired language/communication and social skills.

What is CDKL5 deficiency?

CDKL5 deficiency disorder (CDD) is a rare developmental epileptic encephalopathy (DEE) caused by changes (mutations) in the CDKL5 gene. CDD has been classified as a DEE because the genetic change causes both the epileptic activity as well as the severe impairment of development.

How is CDKL5 diagnosed?

Children suspected of having a CDKL5 disorder should be seen by a child neurologist. The diagnosis is initially suspected based on history, symptoms, and physical examination. CDKL5 disorder is then confirmed by genetic blood testing that can show the change or mutation on the CDKL5 gene. MRI testing may be done.

Can seizures cause low muscle tone?

Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood. Seizures are usually the generalized tonic-clonic type , which involve muscle rigidity, convulsions, and loss of consciousness.

What causes CDKL5 deficiency disorder?

As its name suggests, CDKL5 deficiency disorder is caused by mutations in the CDKL5 gene. This gene provides instructions for making a protein that is essential for normal brain development and function.

How long do people with CDKL5 live?

Q: What is life expectancy? A: Since CDKL5 was discovered only in 2004, we do not have enough data to fully answer this. We do know, however, that the oldest people described in the medical literature with CDKL5 are over 40 years old. There are many others that we know of who are in their mid-30s, 20s, and teens.

How long do kids with CDKL5 live?

Can seizures cause weakness in legs?

Weakness: Weakness can occur in any area of your body. For instance, you may have weakness in one arm, one leg, or both. Usually, you will have weakness in the same part of the body with recurrent seizures. Weakness in one part of the body may look very much like a stroke, but it resolves when the seizure is over.

Is CDKL5 genetic?

CDKL5 deficiency disorder is a genetic disorder that causes seizures , developmental delay , and severe intellectual disability . Seizures typically begin within a few months after birth and are difficult to control with medications. Most children have 1 to 5 seizures every day.

Can kids with CDKL5 walk?

Development is impaired in children with CDKL5 deficiency disorder. Most have severe intellectual disability and little or no speech. The development of gross motor skills, such as sitting, standing, and walking, is delayed or not achieved. About one-third of affected individuals are able to walk independently.

What diseases have seizures as a symptom?

Many conditions have symptoms similar to epilepsy, including first seizures, febrile seizures, nonepileptic events, eclampsia, meningitis, encephalitis, and migraine headaches.

• First Seizures.
• Febrile Seizures.
• Nonepileptic Events.
• Eclampsia.
• Meningitis.
• Encephalitis.
• Migraine.

What seizures affect the muscles?

Tonic and clonic seizures affect the muscles. Tonic seizures cause a stiffening of muscles while clonic seizures are characterized by jerking or twitching.