{"Name":"Post poliomyelitis syndrome","DiseaseID__c":"GARD:0004454","id":4454,"encodedName":"post-poliomyelitis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Post poliomyelitis syndrome","Xref_IDs__c":"31097004; C0080040; D016262; DOID:4952; G14; MEDGEN:36363; MONDO:0017416; ORPHA:2942","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0017416","Disease_Description__c":"Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.","GARD_Name__c":"Post poliomyelitis syndrome","GARD_Synonym__c":"post polio syndrome; post-polio progressive muscular atrophy; postpolio muscular atrophy; postpolio sequelae; postpolio syndrome; postpoliomyelitic syndrome; postpoliomyelitis sequelae; postpoliomyelitis syndrome; progressive muscular atrophy following poliomyelitis","Curated_Disease_Description_Source__c":"GARD:0004454","Curated_Disease_Description__c":"Symptoms and severity vary among affected people and may include muscle weakness and a gradual decrease in the size of muscles (atrophy); muscle and joint pain; fatigue; difficulty with gait; respiratory problems; and/or swallowing problems. Only a polio survivor can develop PPS. While polio is a contagious disease, PPS is not.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2942","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017416","ORPHANET_ID__c":"ORPHA:2942","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome post-poliomielitis","Spanish_Description_Source__c":"ORPHA:2942","Spanish_Description__c":"El síndrome postpoliomielítico es un trastorno neurológico caracterizado por el desarrollo de nuevos síntomas neuromusculares tales como debilidad muscular progresiva o la propensión anómala a la fatiga muscular que se da entre los supervivientes de la forma paralítica aguda de la poliomielitis (véase este término), entre 15 y 40 años después de la curación de la enfermedad, y que no se explica por ninguna otra causa médica. Otras manifestaciones que pueden aparecer de forma gradual son la fatiga generalizada, atrofia muscular, dolor articular y muscular, intolerancia al frío, y dificultades para dormir, deglutir o respirar.","Spanish_Disease_Name__c":"síndrome post-poliomielitis","Spanish_GARD_Synonym__c":"secuela post-polio; secuela post-poliomielitis; síndrome post-polio; síndrome post-poliomielítico","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":"Symptoms and severity vary among affected people and may include muscle weakness and a gradual decrease in the size of muscles (atrophy); muscle and joint pain; fatigue; difficulty with gait; respiratory problems; and/or swallowing problems. Only a polio survivor can develop PPS. While polio is a contagious disease, PPS is not.","Curated_Disease_Description_Source__c":"GARD:0004454","GARD_Synonym__c":"post polio syndrome; post-polio progressive muscular atrophy; postpolio muscular atrophy; postpolio sequelae; postpolio syndrome; postpoliomyelitic syndrome; postpoliomyelitis sequelae; postpoliomyelitis syndrome; progressive muscular atrophy following poliomyelitis","Name":"Post poliomyelitis syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Post-Polio Health International","Website__c":"https://post-polio.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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2942"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2942"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:2942"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=31097004","Source__c":"C0080040; MONDO:0017416","Xref__c":"31097004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016262","Source__c":"C0080040; MONDO:0017416","Xref__c":"D016262"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0080040","Source__c":"C0080040","Xref__c":"C0080040"},{"URL__c":"https://www.orpha.net/en/disease/detail/2942","Source__c":"C0080040; MONDO:0017416; ORPHA:2942","Xref__c":"ORPHA:2942"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=36363","Source__c":"C0080040","Xref__c":"MEDGEN:36363"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4952","Source__c":"MONDO:0017416","Xref__c":"DOID:4952"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G14","Source__c":"MONDO:0017416","Xref__c":"G14"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017416","Source__c":"GARD:0004454","Xref__c":"MONDO:0017416"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2942","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","HPO_Frequency__c":"Occasional (5-29%)","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:2942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to climb stairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003551","HPO_Synonym__c":"Difficulty walking up stairs","HPO_Name__c":"Difficulty climbing stairs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002380","HPO_Synonym__c":"Fasciculation; Muscle fasciculation; Muscle twitch","HPO_Name__c":"Fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","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:2942","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002791","HPO_Synonym__c":"Alveolar hypoventilation; Slow breathing; Under breathing","HPO_Name__c":"Hypoventilation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001367","HPO_Synonym__c":"Abnormal shape of joints; Abnormality of the joints; Anomaly of the joints","HPO_Name__c":"Abnormal joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","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:2942","HPO_Frequency__c":"Frequent (30-79%)","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:2942","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cognitive, psychiatric, or memory anomaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011446","HPO_Synonym__c":"Abnormality of higher mental function","HPO_Name__c":"Abnormality of mental function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2942","HPO_Frequency__c":"Occasional (5-29%)","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:2942","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of abnormally strong desire for sleep during the daytime.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001262","HPO_Synonym__c":"Excessive daytime sleepiness; More than typical sleepiness during day","HPO_Name__c":"Excessive daytime somnolence","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["post polio syndrome"," post-polio progressive muscular atrophy"," postpolio muscular atrophy"," postpolio sequelae"," postpolio syndrome"," postpoliomyelitic syndrome"," postpoliomyelitis sequelae"," postpoliomyelitis syndrome"," progressive muscular atrophy following poliomyelitis"]}