What are genes are related to Cerebral Cavernous Malformation?

By  ,  Onlymyhealth editorial team
Dec 28, 2012
Quick Bites

  • CCM are the abnormal blood vessels in the spinal cord or the brain.
  • Three genes have been identified for an association with CCM.
  • The symptoms are numbness, weakness in the face, vision loss and more.
  • Treatment options for CCM include surgery and observation.

Cavernous malformations are the abnormal blood vessels that appear like a small mulberry in the spinal cord or the brain. Usually, these are hereditary and occur on their own. Malformations often leak blood, causing bleeding inside the brain. This can lead to neurological symptoms that depend on the location of the malformation in the nervous system.


cavernous malformations


What are genes are related to Cerebral Cavernous Malformation?

There are familial (inherited) and sporadic (occurring for no clear reason) cases of CCM. Researchers have discovered three different genes associated with CCM. Studies are currently underway to understand the relationship between the mutations of each of these genes and their corresponding symptoms.


Symptoms and Treatment

The symptoms of cavernous malformations are numbness or weakness in the face, arm or leg, vision loss, unsteadiness or double vision along with difficulties in swallowing or speaking. Seizures may also be experienced as a response to this condition. Some may also have to deal with repeat hemorrhages that can occur as soon as the first hemorrhage occurs or later.

As of now, treatments that are available for cavernous malformations include surgery and observation.




(Image source:Gettyimages.in)

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