{"Name":"Autosomal dominant cerebellar ataxia, deafness and narcolepsy","DiseaseID__c":"GARD:0012372","id":12372,"encodedName":"autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant cerebellar ataxia, deafness and narcolepsy","Xref_IDs__c":"C4302668; DOID:0050968; MEDGEN:928337; MONDO:0011397; OMIM:604121; ORPHA:314404","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011397","Disease_Description__c":"A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.","GARD_Name__c":"Autosomal dominant cerebellar ataxia, deafness and narcolepsy","GARD_Synonym__c":"adca-dn syndrome; autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome; autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome","Curated_Disease_Description_Source__c":"MONDO:0011397","Curated_Disease_Description__c":"Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood and gradually get worse. People with ADCADN have difficulty coordinating movements (ataxia) and mild to moderate hearing loss caused by abnormalities of the inner ear (sensorineural deafness). Most have excessive daytime sleepiness (narcolepsy). Narcolepsy is typically accompanied by cataplexy, which is a sudden brief loss of muscle tone in response to strong emotion (such as excitement, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. These characteristic signs and symptoms of ADCADN typically begin in a person's thirties. Eventually, people with ADCADN also experience a decline of intellectual function (dementia). The cognitive problems often begin with impairment of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Other features that can occur as the condition worsens include degeneration of the nerves that carry information from the eyes to the brain (optic atrophy); clouding of the lenses of the eyes (cataracts); numbness, tingling, or pain in the arms and legs (sensory neuropathy); puffiness or swelling (lymphedema) of the limbs; an inability to control the bowels or the flow of urine (incontinence); depression; uncontrollable crying or laughing (pseudobulbar signs); or a distorted view of reality (psychosis). Affected individuals usually survive into their forties or fifties.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:314404","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011397","ORPHANET_ID__c":"ORPHA:314404","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ataxia cerebelosa-sordera-narcolepsia autosómico dominante","Spanish_Description_Source__c":"ORPHA:314404","Spanish_Description__c":"Es un trastorno polimórfico poco frecuente, que combina un subtipo de ataxia cerebelosa autosómico dominante tipo 1 (ADCA tipo 1) caracterizado por ataxia, sordera neurosensorial y narcolepsia con cataplejía y demencia.","Spanish_Disease_Name__c":"síndrome de ataxia cerebelosa-sordera-narcolepsia autosómico dominante","Spanish_GARD_Synonym__c":"síndrome adca-dn; síndrome de ataxia cerebelosa-hipoacusia-narcolepsia autosómico dominante","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":"Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood and gradually get worse. People with ADCADN have difficulty coordinating movements (ataxia) and mild to moderate hearing loss caused by abnormalities of the inner ear (sensorineural deafness). Most have excessive daytime sleepiness (narcolepsy). Narcolepsy is typically accompanied by cataplexy, which is a sudden brief loss of muscle tone in response to strong emotion (such as excitement, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. These characteristic signs and symptoms of ADCADN typically begin in a person's thirties. Eventually, people with ADCADN also experience a decline of intellectual function (dementia). The cognitive problems often begin with impairment of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Other features that can occur as the condition worsens include degeneration of the nerves that carry information from the eyes to the brain (optic atrophy); clouding of the lenses of the eyes (cataracts); numbness, tingling, or pain in the arms and legs (sensory neuropathy); puffiness or swelling (lymphedema) of the limbs; an inability to control the bowels or the flow of urine (incontinence); depression; uncontrollable crying or laughing (pseudobulbar signs); or a distorted view of reality (psychosis). Affected individuals usually survive into their forties or fifties.","Curated_Disease_Description_Source__c":"MONDO:0011397","GARD_Synonym__c":"adca-dn syndrome; autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome; autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome","Name":"Autosomal dominant cerebellar ataxia, deafness and narcolepsy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Project Sleep","Website__c":"https://project-sleep.com/"},{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Narcolepsy Network, Inc.","Website__c":"https://narcolepsynetwork.org/"},{"Account_Name__c":"Wake Up Narcolepsy","Website__c":"https://www.wakeupnarcolepsy.org/"},{"Account_Name__c":"HSAN1E Society","Website__c":"https://hsan1esociety.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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Sleep medicine","Tag_Category__c":"Specialist","curated_tag_name":"Sleep medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:314404"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012372","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050968","Source__c":"MONDO:0011397","Xref__c":"DOID:0050968"},{"URL__c":"https://www.orpha.net/en/disease/detail/314404","Source__c":"C4302668; MONDO:0011397; ORPHA:314404","Xref__c":"ORPHA:314404"},{"URL__c":"https://www.omim.org/entry/604121","Source__c":"C4302668; MONDO:0011397; ORPHA:314404","Xref__c":"OMIM:604121"},{"URL__c":"https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy","Source__c":"GARD:0012372","Xref__c":"https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011397","Source__c":"GARD:0012372","Xref__c":"MONDO:0011397"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722293005","Source__c":"C4302668","Xref__c":"722293005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4302668","Source__c":"C4302668","Xref__c":"C4302668"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=928337","Source__c":"C4302668","Xref__c":"MEDGEN:928337"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DNMT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dnmt1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002529","HPO_Synonym__c":"Loss of brain cells; Neuronal loss; Neuronal loss in CNS","HPO_Name__c":"Neuronal loss in central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebrospinal fluid (CSF).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002921","HPO_Synonym__c":"Abnormal CSF findings; Abnormality of the cerebrospinal fluid; Abnormality of the CSF","HPO_Name__c":"Abnormal cerebrospinal fluid morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","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:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007366","HPO_Synonym__c":"Brainstem atrophy","HPO_Name__c":"Atrophy/Degeneration affecting the brainstem","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002200","HPO_Synonym__c":"Pseudobulbar symptoms","HPO_Name__c":"Pseudobulbar signs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Very frequent (80-99%)","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:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the third ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007082","HPO_Name__c":"Dilated third ventricle","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting head movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002346","HPO_Synonym__c":"Head tremor","HPO_Name__c":"Head tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002500","HPO_Synonym__c":"Abnormality of subcortical white matter; Abnormality of the cerebral white matter; Cerebral white matter abnormalities; Leukoaraiosis; White matter abnormalities; White matter alterations","HPO_Name__c":"Abnormal cerebral white matter morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003550","HPO_Name__c":"Predominantly lower limb lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002322","HPO_Synonym__c":"Rest tremor; Resting tremor; Tremor at rest","HPO_Name__c":"Resting tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","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:314404","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional anomaly of mitochondria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003287","HPO_Synonym__c":"Mitochondrial dysfunction","HPO_Name__c":"Abnormality of mitochondrial metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002476","HPO_Synonym__c":"Archaic reflex; Primitive reflexes","HPO_Name__c":"Primitive reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy affecting the sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000763","HPO_Synonym__c":"Damage to nerves that sense feeling; Peripheral sensory neuropathy","HPO_Name__c":"Sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314404","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002524","HPO_Name__c":"Cataplexy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Psychiatry","Otolaryngology","Sleep medicine"],"Account":["Ataxia"]},"synonyms":["adca-dn syndrome"," autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome"," autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome"," autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome"]}