Rare Pulmonology News

Disease Profile

Agnosia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Primary visual agnosia; Monomodal visual amnesia; Visual amnesia

Categories

Nervous System Diseases

Summary

Agnosia is characterized by an inability to recognize and identify objects and/or persons. Symptoms may vary, according to the area of the brain that is affected.[1] It can be limited to one sensory modality such as vision or hearing; for example, a person may have difficulty in recognizing an object as a cup or identifying a sound as a cough. Agnosia can result from strokes, traumatic brain injury, dementia, a tumor, developmental disorders, overexposure to environmental toxins (e.g., carbon monoxide poisoning), or other neurological conditions.[2][1] Visual agnosia may also occur in association with other underlying disorders.[1] People with agnosia may retain their cognitive abilities in other areas.[2] Treatment of primary agnosia is symptomatic and supportive; when it is caused by an underlying disorder, treatment of the disorder may reduce symptoms and help prevent further brain damage.[1]

Symptoms

People with primary visual agnosia may have one or several impairments in visual recognition without impairment of intelligence, motivation, and/or attention. Vision is almost always intact and the mind is clear. Some affected individuals do not have the ability to recognize familiar objects. They can see objects, but are unable to identify them by sight. However, objects may be identified by touch, sound, and/or smell. For example, affected individuals may not be able to identify a set of keys by sight, but can identify them upon holding them in their hands.

Some researchers separate visual agnosia into two broad categories: apperceptive agnosia and associative agnosia. Apperceptive agnosia refers to individuals who cannot properly process what they see, meaning they have difficult identifying shapes or differentiating between different objects (visual stimuli). Affected individuals may not be able to recognize that pictures of the same object from different angles are of the same object. Affected individuals may be unable to copy (e.g., draw a picture) of an object. Associative agnosia refers to people who cannot match an object with their memory. They can accurately describe an object and even draw a picture of the object, but are unable to state what the object is or is used for. However, if told verbally what the object is, an affected individual will be able to describe what it is used for.

In some cases, individuals with primary visual agnosia cannot identify familiar people (prosopagnosia). They can see the person clearly and can describe the person (e.g., hair and eye color), but cannot identify the person by name. People with prosopagnosia may identify people by touch, smell, speech, or the way that they walk (gait). In some rare cases, affected individuals cannot recognize their own face.

Some people have a form of primary visual agnosia associated with the loss of the ability to identify their surroundings (loss of environmental familiarity agnosia). Symptoms include the inability to recognize familiar places or buildings. Affected individuals may be able to describe a familiar environment from memory and point to it on a map.

Simultanagnosia is a characterized by the inability to read and the inability to view one's surroundings as a whole. The affected individual can see parts of the surrounding scene, but not the whole. There is an inability to comprehend more than one part of a visual scene at a time or to coordinate the parts.

In rare cases, people with primary visual agnosia may not be able to recognize or point to various parts of the body (autotopagnosia). Symptoms may also include loss of the ability to distinguish left from right.[1]

Cause

Primary visual agnosia occurs as a result of damage to the brain. Symptoms develop due to the inability to retrieve information from those damaged areas that are associated with visual memory. Lesions may occur as a result of traumatic brain injury, stroke, tumor, or overexposure to dangerous environmental toxins (e.g., carbon monoxide poisoning). In some cases, the cause of the brain damage may not be known. Symptoms may vary, according to the area of the brain that is affected.

Visual agnosia may also occur in association with other underlying disorders (secondary visual agnosia) such as Alzheimer's disease, agenesis of the corpus callosum, MELAS, and other diseases that result in progressive dementia. Disorders that may precede the development of primary visual agnosia (and may be useful in identifying an underlying cause of some forms of this disorder) include Alzheimer's disease, Pick's disease, and a rare disorder called Balint's syndrome.[1]

Diagnosis

A variety of psychophysical tests can be conducted to pinpoint the nature of the visual process that is disrupted in an individual. Brain damage that causes visual agnosia may be identified through imaging techniques, including computed tomography (CT scan) and magnetic resonance imaging (MRI).[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Agnosia. Click on the link to view a sample search on this topic.

          References

          1. Agnosia, Primary Visual. NORD. 2009; https://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Agnosia%2C%20Primary%20Visual. Accessed 4/22/2011.
          2. Agnosia Information Page. NINDS. October 2, 2007; https://www.ninds.nih.gov/disorders/agnosia/agnosia.htm. Accessed 4/22/2011.

          Rare Pulmonology News