{"Name":"Miller Fisher syndrome","DiseaseID__c":"GARD:0003668","id":3668,"encodedName":"miller-fisher-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Miller Fisher syndrome","Xref_IDs__c":"1767005; C0393799; C116958; D019846; DOID:12889; MEDGEN:95994; MONDO:0005851; ORPHA:98919","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005851","Disease_Description__c":"An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.","GARD_Name__c":"Miller Fisher syndrome","GARD_Synonym__c":"cranial variant of gbs; cranial variant of guillain-barre syndrome; cranial variant of guillain-barré syndrome; fisher syndrome; fisher's syndrome; guillain barre syndrome, miller fisher variant; guillain-barre syndrome, miller fisher variant; miller fisher variant of guillain barre syndrome; miller-fisher syndrome; miller-fisher variant of guillain-barre syndrome; ophthalmoplegia, ataxia and areflexia syndrome; ophthalmoplegia, ataxia, areflexia syndrome; syndrome, fisher; syndrome, miller fisher; syndrome, miller-fisher","Curated_Disease_Description_Source__c":"GARD:0003668","Curated_Disease_Description__c":"Miller Fisher syndrome is a rare acquired nerve disease considered to be a variant of Guillain-Barr&eacute; syndrome. The main features are lack of muscle coordination (ataxia), eye muscle weakness resulting in the inability to move the eyes in several directions (ophthalmoplegia), and the absence of tendon reflexes. Symptoms often start several days after a viral illness. Other symptoms include generalized muscle weakness and respiratory failure. The cause is not known, but it is thought to be an autoimmune disease in which there are autoantibodies that attack the nerves. In most people with Miller Fisher syndrome an antibody (anti-GQ1b) is identified. The presence of these autoantibodies helps confirm the diagnosis of the syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:98919","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0005851","ORPHANET_ID__c":"ORPHA:98919","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de miller-fisher","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de miller-fisher","Spanish_GARD_Synonym__c":"síndrome de fisher; variante craneal del sgb; variante craneal del síndrome de guillain-barré","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":"Miller Fisher syndrome is a rare acquired nerve disease considered to be a variant of Guillain-Barr&eacute; syndrome. The main features are lack of muscle coordination (ataxia), eye muscle weakness resulting in the inability to move the eyes in several directions (ophthalmoplegia), and the absence of tendon reflexes. Symptoms often start several days after a viral illness. Other symptoms include generalized muscle weakness and respiratory failure. The cause is not known, but it is thought to be an autoimmune disease in which there are autoantibodies that attack the nerves. In most people with Miller Fisher syndrome an antibody (anti-GQ1b) is identified. The presence of these autoantibodies helps confirm the diagnosis of the syndrome.","Curated_Disease_Description_Source__c":"GARD:0003668","GARD_Synonym__c":"cranial variant of gbs; cranial variant of guillain-barre syndrome; cranial variant of guillain-barré syndrome; fisher syndrome; fisher's syndrome; guillain barre syndrome, miller fisher variant; guillain-barre syndrome, miller fisher variant; miller fisher variant of guillain barre syndrome; miller-fisher syndrome; miller-fisher variant of guillain-barre syndrome; ophthalmoplegia, ataxia and areflexia syndrome; ophthalmoplegia, ataxia, areflexia syndrome; syndrome, fisher; syndrome, miller fisher; syndrome, miller-fisher","Name":"Miller Fisher syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Facial Palsy UK","Website__c":"https://www.facialpalsy.org.uk/"},{"Account_Name__c":"Inflammatory Neuropathies UK","Website__c":"https://www.inflammatoryneuropathies.uk/"},{"Account_Name__c":"Guillain Barré Syndrome Support Group NZ Trust","Website__c":"https://gbsnz.org.nz/"},{"Account_Name__c":"GBS/CIDP Foundation International","Website__c":"https://www.gbs-cidp.org/"}],"GARD_Disease_Tag__c":[{"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:98919"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C019846","Source__c":"C0393799; MONDO:0005851","Xref__c":"D019846"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12889","Source__c":"MONDO:0005851","Xref__c":"DOID:12889"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=95994","Source__c":"C0393799","Xref__c":"MEDGEN:95994"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393799","Source__c":"C0393799","Xref__c":"C0393799"},{"URL__c":"https://www.orpha.net/en/disease/detail/98919","Source__c":"C0393799; MONDO:0005851; ORPHA:98919","Xref__c":"ORPHA:98919"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1767005","Source__c":"C0393799; MONDO:0005851","Xref__c":"1767005"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116958","Source__c":"C0393799; MONDO:0005851","Xref__c":"C116958"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005851","Source__c":"GARD:0003668","Xref__c":"MONDO:0005851"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001283","HPO_Synonym__c":"Bulbar muscle weakness; Bulbar palsies; Bulbar weakness","HPO_Name__c":"Bulbar palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009916","HPO_Synonym__c":"Asymmetric pupil sizes; Asymmetry of the pupils; Unequal pupil dilatation; Unequal pupil size","HPO_Name__c":"Anisocoria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally diminished level of attention, responsiveness, or wakefulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004372","HPO_Synonym__c":"Disturbances of consciousness; Lowered consciousness; Reduced consciousness/confusion","HPO_Name__c":"Reduced consciousness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Very frequent (80-99%)","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:98919","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Paralysis of the external ocular muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000544","HPO_Synonym__c":"Chronic progressive external ophthalmoplegia; CPEO; Ophthalmoplegia externa; Paralysis or weakness of muscles within or surrounding outer part of eye; Progressive paralysis or weakness of muscles of eye motility; Progressive paralysis or weakness of muscles of eye movement","HPO_Name__c":"External ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Frequent (30-79%)","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:98919","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paralysis of the iris and ciliary apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007942","HPO_Name__c":"Internal ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010845","HPO_Synonym__c":"EEG: generalized slow activity","HPO_Name__c":"EEG with generalized slow activity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality involving the movement of the eye outwards.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011347","HPO_Name__c":"Abnormality of ocular abduction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased white blood cell count in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012229","HPO_Synonym__c":"Cerebrospinal fluid pleocytosis; Increased leukocyte count in CSF","HPO_Name__c":"CSF pleocytosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of protein in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002922","HPO_Synonym__c":"Cerebrospinal fluid protein increased; Cerebrospinal fluid with increased protein; Elevated cerebrospinal fluid protein; Elevated csf protein; Hyperproteinorrhachia; Increased CSF protein; Increased protein in csf; Spinal fluid protein elevated","HPO_Name__c":"Increased CSF protein concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal dilatation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011499","HPO_Synonym__c":"Dilated pupil","HPO_Name__c":"Mydriasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034122","HPO_Name__c":"Anti-GQ1b antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:98919","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002273","HPO_Synonym__c":"Quadriparesis","HPO_Name__c":"Tetraparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["cranial variant of gbs"," cranial variant of guillain-barre syndrome"," cranial variant of guillain-barré syndrome"," fisher syndrome"," fisher's syndrome"," guillain barre syndrome, miller fisher variant"," guillain-barre syndrome, miller fisher variant"," miller fisher variant of guillain barre syndrome"," miller-fisher syndrome"," miller-fisher variant of guillain-barre syndrome"," ophthalmoplegia, ataxia and areflexia syndrome"," ophthalmoplegia, ataxia, areflexia syndrome"," syndrome, fisher"," syndrome, miller fisher"," syndrome, miller-fisher"]}