CAPOS syndrome

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CAPOS syndrome is a rare genetic disorder characterized by Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss. The syndrome was first described in 1996 by Nicolaides and Appleton. The name CAPOS is an acronym derived from the initial letters of these five main features.

Clinical Features

Cerebellar ataxia is a form of ataxia originating in the cerebellum. It results in unsteady movements and a lack of coordination.

Areflexia is a condition in which the muscles do not respond to stimuli as they should. This can lead to difficulties with movement and coordination.

Pes cavus is a high arch of the foot that does not flatten with weight bearing. This can lead to instability and a variety of foot problems.

Optic atrophy refers to the degeneration of the optic nerve, which can lead to vision loss.

Sensorineural hearing loss is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).

Genetics

CAPOS syndrome is caused by mutations in the ATP1A3 gene. This gene provides instructions for making a protein that is found in nerve cells, where it helps maintain the proper balance of charged atoms (ions) inside these cells. Mutations in the ATP1A3 gene alter the function of this protein, which disrupts ion balance in nerve cells and leads to the features of CAPOS syndrome.

Diagnosis and Treatment

Diagnosis of CAPOS syndrome is based on the presence of the characteristic clinical features. Genetic testing can confirm the diagnosis. Treatment is symptomatic and supportive, focusing on managing each of the individual symptoms.

See Also



Genetic disorders
General Concepts
Types and Disorders
Diagnosis and Treatment
Related Topics
This genetic disorder related article is a stub.


NIH genetic and rare disease info

CAPOS syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - CAPOS syndrome

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