{"Name":"Neuralgic amyotrophy","DiseaseID__c":"GARD:0004228","id":4228,"encodedName":"neuralgic-amyotrophy","IsDeleted":false,"Disease_Name_Full__c":"Neuralgic amyotrophy","Xref_IDs__c":"26609002; C1510479; G54.5; MEDGEN:307145; MONDO:0017362; ORPHA:2901","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017362","Disease_Description__c":"A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.","GARD_Name__c":"Neuralgic amyotrophy","GARD_Synonym__c":"acute brachial plexus neuritis; immune brachial plexus neuropathy; mononeuritis multiplex with brachial predilection; neuralgic shoulder amyotrophy; parsonage turner syndrome","Curated_Disease_Description_Source__c":"GARD:0004228","Curated_Disease_Description__c":"Parsonage Turner syndrome (PTS) is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. The pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in this syndrome is called the brachial plexus and it controls movement and sensation in the shoulders and arms. The cause is still unknown (idiopathic). Suspected triggers include viral and bacterial infections, surgery, vaccinations, injury, childbirth, strenuous exercise, certain medical procedures, and various health conditions. PTS is one of two forms of neuralgic amyotrophy. The other form is hereditary and is caused by genetic changes in the SEPT9 gene in about 85% of cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:2901","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017362","ORPHANET_ID__c":"ORPHA:2901","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amiotrofia neurálgica","Spanish_Description_Source__c":"ORPHA:2901","Spanish_Description__c":"Es un trastorno poco frecuente del sistema nervioso periférico caracterizado por la repentina aparición de un dolor intenso en el miembro superior seguido de una debilidad y atrofia multifocal súbitas y una lenta recuperación durante meses o años. La NA incluye la forma idiopática (NAI, también conocida como síndrome de Parsonage-Turner) y la hereditaria (NAH).","Spanish_Disease_Name__c":"amiotrofia neurálgica","Spanish_GARD_Synonym__c":"amiotrofia neurálgica del hombro; mononeuritis múltiple con predilección braquial; neuritis aguda del plexo braquial; neuritis del plexo braquial; neuropatía inmunitaria del plexo braquial","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":"Parsonage Turner syndrome (PTS) is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. The pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in this syndrome is called the brachial plexus and it controls movement and sensation in the shoulders and arms. The cause is still unknown (idiopathic). Suspected triggers include viral and bacterial infections, surgery, vaccinations, injury, childbirth, strenuous exercise, certain medical procedures, and various health conditions. PTS is one of two forms of neuralgic amyotrophy. The other form is hereditary and is caused by genetic changes in the SEPT9 gene in about 85% of cases.","Curated_Disease_Description_Source__c":"GARD:0004228","GARD_Synonym__c":"acute brachial plexus neuritis; immune brachial plexus neuropathy; mononeuritis multiplex with brachial predilection; neuralgic shoulder amyotrophy; parsonage turner syndrome","Name":"Neuralgic amyotrophy","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"American Chronic Pain Association","Website__c":"https://www.acpanow.com/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"The Foundation for Peripheral Neuropathy","Website__c":"https://www.foundationforpn.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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2901"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004228","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1510479","Source__c":"C1510479","Xref__c":"C1510479"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=307145","Source__c":"C1510479","Xref__c":"MEDGEN:307145"},{"URL__c":"https://www.orpha.net/en/disease/detail/2901","Source__c":"C1510479; MONDO:0017362; ORPHA:2901","Xref__c":"ORPHA:2901"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017362","Source__c":"GARD:0004228","Xref__c":"MONDO:0017362"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G54.5","Source__c":"MONDO:0017362","Xref__c":"G54.5"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=26609002","Source__c":"C1510479","Xref__c":"26609002"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal protrusion of the scapula away from the surface of the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003691","HPO_Synonym__c":"Scapula alata; Winged scapulae; Winged scapulas; Winged shoulder blade","HPO_Name__c":"Scapular winging","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003484","HPO_Synonym__c":"Decreased arm strength; Weak arm","HPO_Name__c":"Upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Frequent (30-79%)","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:2901","HPO_Frequency__c":"Very frequent (80-99%)","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:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excess skin around the neck, often lying in horizontal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005989","HPO_Synonym__c":"Excess neck skin; Excess skin over the neck; Excessive nuchal skin; Redundant neck skin; Redundant nuchal skin; Redundant skin folds of neck; Redundant skin over the neck","HPO_Name__c":"Redundant neck skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \\\"symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001159","HPO_Synonym__c":"Webbed fingers or toes","HPO_Name__c":"Syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012513","HPO_Synonym__c":"Upper limb pain","HPO_Name__c":"Upper limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The facial appearance is more circular than usual as viewed from the front.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000311","HPO_Synonym__c":"Circular face; Round face; Round facial appearance; Round facial shape; Round facies","HPO_Name__c":"Round face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased ability to perceive touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033748","HPO_Synonym__c":"Numbness","HPO_Name__c":"Hypoesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy involving the muscles of the upper limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009129","HPO_Synonym__c":"Amyotrophy involving the upper limbs","HPO_Name__c":"Upper limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000912","HPO_Synonym__c":"Congenital, upward displacement of the scapula; High scapula; High shoulder blade; Sprengel deformity","HPO_Name__c":"Sprengel anomaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin of the hands or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001063","HPO_Synonym__c":"Persistent blue color of hands or feet","HPO_Name__c":"Acrocyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","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:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012745","HPO_Synonym__c":"Decreased height of palpebral fissure; Short opening between the eyelids; Short palpebral fissures","HPO_Name__c":"Short palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized disorder of peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001271","HPO_Synonym__c":"Peripheral nerve disease","HPO_Name__c":"Polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["acute brachial plexus neuritis"," immune brachial plexus neuropathy"," mononeuritis multiplex with brachial predilection"," neuralgic shoulder amyotrophy"," parsonage turner syndrome"],"spanishId":13305,"spanishName":"sindrome-de-parsonage-turner"}