Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome

What are the other Names for this Condition? (Also known as/Synonyms)

• CAPOS Syndrome
• Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss 

What is Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome? (Definition/Background Information)

• Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss (CAPOS) Syndrome is a rare autosomal dominant neurological disorder
• It is characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements

(Source: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome? (Age and Sex Distribution)

• Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome can be inherited
• Currently, no risk factors have been clearly identified for CAPOS Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome? (Etiology)

• The exact cause of development of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome is unknown
• It is believed to be a genetic disorder that is inherited in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome?

The signs and symptoms of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome may include:

• Areflexia
• Blindness
• Dysarthria
• Dysmetria
• Dystonia
• Episodic generalized hypotonia
• Gait ataxia
• Hemiparesis
• Nystagmus
• Optic atrophy
• Pes cavus
• Progressive sensorineural hearing impairment
• Truncal ataxia

(Source: Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome Diagnosed?

Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome?

The complications of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome may include:

• Vision loss
• Hearing loss
• Walking difficulties

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome Treated?

There is no cure for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome, since it is reportedly a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome be Prevented?

Currently, Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome? (Outcomes/Resolutions) 

• The prognosis of Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorineural Hearing Loss Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/