{"Name":"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome","DiseaseID__c":"GARD:0017937","id":17937,"encodedName":"cerebellar-ataxia-with-neuropathy-and-bilateral-vestibular-areflexia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome","Xref_IDs__c":"1236804009; C202046; C3281223; MEDGEN:482853; MONDO:0044720; OMIM:614575; ORPHA:504476","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:504476","Disease_Description__c":"A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.","GARD_Name__c":"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome","GARD_Synonym__c":"cabv (cerebellar ataxia, bilateral vestibulopathy) syndrome; cabv syndrome; canvas; canvas - cerebellar ataxia, neuropathy, vestibular areflexia syndrome; cerebellar ataxia with bilateral vestibulopathy syndrome; cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux; neuropathy, hereditary sensory and autonomic, type ib; neuropathy, hereditary sensory, type ib","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a rare genetic condition. People with CANVAS may experience difficulties with walking (ataxia) and speaking (dysarthria). They may have lack of coordination of their arms and legs. CANVAS can also cause involuntary eye movements (nystagmus). They may have problems with their balance and spatial awareness. People with these symptoms may also have nerve damage. People with CANVAS may also have a chronic cough and/or problems with their autonomic nervous system. The autonomic nervous system is the control center for many body functions. These include blood pressure, heart rate, body temperature, breathing, digestion, and sweating. As this disease progresses, an area of the brain called the cerebellum can shrink (atrophy).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:504476","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044720","ORPHANET_ID__c":"ORPHA:504476","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ataxia cerebelosa con neuropatía y arreflexia vestibular bilateral","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de ataxia cerebelosa con neuropatía y arreflexia vestibular bilateral","Spanish_GARD_Synonym__c":"canvas; síndrome cabv; síndrome de ataxia cerebelosa con vestibulopatía bilateral","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a rare genetic condition. People with CANVAS may experience difficulties with walking (ataxia) and speaking (dysarthria). They may have lack of coordination of their arms and legs. CANVAS can also cause involuntary eye movements (nystagmus). They may have problems with their balance and spatial awareness. People with these symptoms may also have nerve damage. People with CANVAS may also have a chronic cough and/or problems with their autonomic nervous system. The autonomic nervous system is the control center for many body functions. These include blood pressure, heart rate, body temperature, breathing, digestion, and sweating. As this disease progresses, an area of the brain called the cerebellum can shrink (atrophy).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"cabv (cerebellar ataxia, bilateral vestibulopathy) syndrome; cabv syndrome; canvas; canvas - cerebellar ataxia, neuropathy, vestibular areflexia syndrome; cerebellar ataxia with bilateral vestibulopathy syndrome; cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux; neuropathy, hereditary sensory and autonomic, type ib; neuropathy, hereditary sensory, type ib","Name":"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ataxia UK","Website__c":"https://www.ataxia.org.uk/"},{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Federación de Ataxias de España","Website__c":"https://fedaes.org/"},{"Account_Name__c":"A-T Children's Project","Website__c":"https://www.atcp.org"},{"Account_Name__c":"Friedreich's Ataxia Research Alliance (FARA)","Website__c":"https://www.curefa.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:504476"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:504476"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1138","Xref__c":"NBK1138"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK564656","Source__c":"Gene Review","Xref__c":"NBK564656"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482853","Source__c":"C3281223","Xref__c":"MEDGEN:482853"},{"URL__c":"https://www.orpha.net/en/disease/detail/504476","Source__c":"C3281223; MONDO:0044720; ORPHA:504476","Xref__c":"ORPHA:504476"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3281223","Source__c":"C3281223","Xref__c":"C3281223"},{"URL__c":"https://www.omim.org/entry/614575","Source__c":"C3281223; MONDO:0044720; ORPHA:504476","Xref__c":"OMIM:614575"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044720","Source__c":"GARD:0017937","Xref__c":"MONDO:0044720"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C202046","Source__c":"C3281223","Xref__c":"C202046"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1236804009","Source__c":"C3281223","Xref__c":"1236804009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RFC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002075","HPO_Synonym__c":"Difficulty performing quick and alternating movements; Dysdiadochokinesia","HPO_Name__c":"Dysdiadochokinesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001310","HPO_Synonym__c":"Lack of coordination of movement","HPO_Name__c":"Dysmetria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002828","HPO_Name__c":"Multiple joint contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008568","HPO_Name__c":"Vestibular areflexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002080","HPO_Name__c":"Intention tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:504476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007108","HPO_Name__c":"Demyelinating peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Otolaryngology"],"Account":["Peripheral Neuropathy","Ataxia"]},"synonyms":["cabv (cerebellar ataxia, bilateral vestibulopathy) syndrome"," cabv syndrome"," canvas"," canvas - cerebellar ataxia, neuropathy, vestibular areflexia syndrome"," cerebellar ataxia with bilateral vestibulopathy syndrome"," cerebellar ataxia, neuropathy, and vestibular areflexia syndrome"," neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux"," neuropathy, hereditary sensory and autonomic, type ib"," neuropathy, hereditary sensory, type ib"]}