cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
Also known as: CAPOS syndrome, CAPOS, cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss, cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.
Category: General
Symptoms associated with cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
The following symptoms have been associated with cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome in medical literature. Not everyone experiences the same symptoms.
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. ...
Dysphagia
Difficulty in swallowing....
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Hemiparesis
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete ...
Muscle weakness
Reduced strength of muscles....
Progressive sensorineural hearing impairment
A progressive form of sensorineural hearing impairment....
Progressive visual loss
A reduction of previously attained ability to see....
Reduced consciousness
Abnormally diminished level of attention, responsiveness, or wakefulness....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Visual loss
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term re...
Tests used to investigate cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Healthcare providers may order these tests when evaluating cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, which is why a clinical evaluation is important.
Full NF2-related schwannomatosis
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MELAS
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Morimoto-Ryu-Malicdan neuromuscular syndrome
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Tay-Sachs disease
Tay-Sachs disease is a medical condition that may be associated with various symptoms and signs....
amyloidosis, hereditary systemic 1
amyloidosis, hereditary systemic 1 is a medical condition that may be associated with various symptoms and sig...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome?
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome is a health condition described in medical literature. Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
What are the symptoms of cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome?
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome is associated with 11 symptoms in the medical literature we index, including Blindness, Dysphagia, Hearing impairment, Hemiparesis, Muscle weakness, Progressive sensorineural hearing impairment. Symptoms vary widely between individuals.
How is cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, please discuss your symptoms with a qualified healthcare provider.