Autosomal Dominant Porencephaly Type I

Summarized by Plex Health
Last Updated: 09 May 2022

Autosomal dominant porencephaly type I is uncommon hereditary disorder in which fluid-filled cysts and dental caries develop on the surface of the brain. Autosomal dominant porencephaly type I is caused by mutations of the COL4A1 gene. Affected individuals are predisposed to damage to small capillary, consisting of the small vessels within the brain. Mutations of the COL4A1 genetics cause a minimum of 2 other disorders, brain small vessel disease with hemorrhage and HANAC disorder. The age of onset, specific symptoms, disease development and severity of autosomal dominant porencephaly type I vary considerably from one individual to another, even among members of the same family. Still other individuals might not develop any symptoms up until well into the adult years. Affected individuals need to talk with their physicians and clinical team about their specific case history and associated symptoms. Symptoms that might occur in individuals with autosomal dominant type I porencephaly consist of migraine headaches, weakness or paralysis of one side of the body, seizures, stroke, varying degrees of intellectual special needs, and dystonia, a group of neurological disorders defined by involuntary contraction that force the body into abnormal, in some cases unpleasant, positions and motions. Added features that may be related to autosomal dominant porencephaly type I include inadequate or missing speech growth, face paralysis, involuntary muscle mass convulsions that result in slow, tight, rigid motions, visual field flaws, and hydrocephalus, a condition in which buildup of extreme cerebrospinal fluid in the head causes pressure on the cells of the brain, resulting in a selection of symptoms. Some individuals with autosomal dominant porencephaly type I might have additional symptoms in some cases associated with mutations of the COL4A1 gene.

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