{"Name":"Oculopharyngeal muscular dystrophy","DiseaseID__c":"GARD:0007245","id":7245,"encodedName":"oculopharyngeal-muscular-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Oculopharyngeal muscular dystrophy","Xref_IDs__c":"77097004; C0270952; C84942; D039141; DOID:11719; MEDGEN:75730; MONDO:0008116; NBK1126; OMIMPS:164300; ORPHA:270","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008116","Disease_Description__c":"A rare, adult-onset, progressive myopathy characterized by progressive eyelid ptosis, ophthalmoplegia, dysphagia, dysarthria and proximal limb weakness.","GARD_Name__c":"Oculopharyngeal muscular dystrophy","GARD_Synonym__c":"muscular dystrophy, oculopharyngeal; oculopharyngeal dystrophy; opmd","Curated_Disease_Description_Source__c":"GARD:0007245","Curated_Disease_Description__c":"Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The term 'oculopharyngeal' refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal). Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids (ptosis). Ptosis can worsen over time, causing the eyelid to impair vision, and in some cases, limit eye movement. Along with ptosis, affected individuals develop weakness of the throat muscles that causes difficulty swallowing (dysphagia). Dysphagia begins with dry food, but over time, liquids can also become difficult to swallow. Dysphagia can cause saliva to accumulate and a wet-sounding voice. Many people with oculopharyngeal muscular dystrophy also have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition, choking, or a bacterial lung infection called aspiration pneumonia. Individuals with oculopharyngeal muscular dystrophy frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the shoulders, upper legs, and hips (limb-girdle muscles). The weakness slowly gets worse, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance. Rarely, individuals have a severe form of oculopharyngeal muscular dystrophy with muscle weakness that begins before age 45, and have trouble walking independently by age 60. These individuals often also have disturbances in nerve function (neuropathy), a gradual loss of intellectual functioning (cognitive decline), and psychiatric symptoms such as depression or strongly held false beliefs (delusions).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:270","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008116","ORPHANET_ID__c":"ORPHA:270","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular oculofaríngea","Spanish_Description_Source__c":"ORPHA:270","Spanish_Description__c":"Es una miopatía progresiva poco frecuente de inicio en la edad adulta, que se caracteriza por ptosis palpebral progresiva, oftalmoplejia, disfagia, disartria y debilidad proximal de las extremidades.","Spanish_Disease_Name__c":"distrofia muscular oculofaríngea","Spanish_GARD_Synonym__c":"dmof","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":"Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The term 'oculopharyngeal' refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal). Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids (ptosis). Ptosis can worsen over time, causing the eyelid to impair vision, and in some cases, limit eye movement. Along with ptosis, affected individuals develop weakness of the throat muscles that causes difficulty swallowing (dysphagia). Dysphagia begins with dry food, but over time, liquids can also become difficult to swallow. Dysphagia can cause saliva to accumulate and a wet-sounding voice. Many people with oculopharyngeal muscular dystrophy also have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition, choking, or a bacterial lung infection called aspiration pneumonia. Individuals with oculopharyngeal muscular dystrophy frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the shoulders, upper legs, and hips (limb-girdle muscles). The weakness slowly gets worse, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance. Rarely, individuals have a severe form of oculopharyngeal muscular dystrophy with muscle weakness that begins before age 45, and have trouble walking independently by age 60. These individuals often also have disturbances in nerve function (neuropathy), a gradual loss of intellectual functioning (cognitive decline), and psychiatric symptoms such as depression or strongly held false beliefs (delusions).","Curated_Disease_Description_Source__c":"GARD:0007245","GARD_Synonym__c":"muscular dystrophy, oculopharyngeal; oculopharyngeal dystrophy; opmd","Name":"Oculopharyngeal muscular dystrophy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ben's Friends","Website__c":"https://www.bensfriends.org/"},{"Account_Name__c":"OPMD Association","Website__c":"https://opmd.org"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy UK","Website__c":"https://www.musculardystrophyuk.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":"Ophthalmology","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":"Muscular Dystrophy","Tag_Category__c":"Account;Disease Category","category_description":"Muscular dystrophy refers to a group of inherited disorders that cause muscles to gradually weaken and break down.","curated_tag_name":"Muscular dystrophy"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:270"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:270"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0270952"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007245","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1126","Source__c":"Gene Review","Xref__c":"NBK1126"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75730","Source__c":"C0270952","Xref__c":"MEDGEN:75730"},{"URL__c":"https://www.orpha.net/en/disease/detail/270","Source__c":"C0270952; MONDO:0008116; ORPHA:270","Xref__c":"ORPHA:270"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=77097004","Source__c":"C0270952; MONDO:0008116","Xref__c":"77097004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11719","Source__c":"MONDO:0008116","Xref__c":"DOID:11719"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS164300","Source__c":"MONDO:0008116","Xref__c":"OMIMPS:164300"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C039141","Source__c":"C0270952; MONDO:0008116","Xref__c":"D039141"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0270952","Source__c":"C0270952","Xref__c":"C0270952"},{"URL__c":"https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy","Source__c":"GARD:0007245","Xref__c":"https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008116","Source__c":"GARD:0007245","Xref__c":"MONDO:0008116"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84942","Source__c":"C0270952","Xref__c":"C84942"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PABPN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pabpn1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Very frequent (80-99%)","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:270","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010535","HPO_Synonym__c":"Pauses in breathing while sleeping; Sleep apnea; Sleep apnoea","HPO_Name__c":"Sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012548","HPO_Synonym__c":"Skeletal muscle fatty infiltration","HPO_Name__c":"Fatty replacement of skeletal muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030319","HPO_Synonym__c":"Decreased facial muscle strength; Decreased strength of facial muscles; Face weakness; Facial muscle weakness; Facial weakness; Myasthenia of facial muscles; Reduced facial muscle strength; Weakness of face; Weakness of facial musculature","HPO_Name__c":"Weakness of facial musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034045","HPO_Synonym__c":"Angular muscle fibers","HPO_Name__c":"Angulated muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wasting of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012473","HPO_Synonym__c":"Atrophy of the tongue; Lingual atrophy; Lingual wasting; Wasting of the tongue","HPO_Name__c":"Tongue atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003302","HPO_Synonym__c":"Displacement of one backbone compared to another; Slipped backbone; Spondylolithesis","HPO_Name__c":"Spondylolisthesis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003805","HPO_Synonym__c":"Rimmed vacuoles on biopsy","HPO_Name__c":"Rimmed vacuoles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004303","HPO_Synonym__c":"Abnormal skeletal muscle fiber morphology; Abnormality of muscle fibers","HPO_Name__c":"Abnormal muscle fiber morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003325","HPO_Synonym__c":"Limb girdle weakness; Muscle weakness, limb-girdle; Muscular weakness, limb-girdle","HPO_Name__c":"Limb-girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","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:270","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Paralysis of one or more extraocular muscles that are responsible for eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000602","HPO_Synonym__c":"Eye muscle paralysis; Paralysis of extraocular eye movement","HPO_Name__c":"Ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003200","HPO_Synonym__c":"Mitochondrial proliferation in muscle tissue; Ragged red muscle fibers; Ragged-red fibers","HPO_Name__c":"Ragged-red muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001618","HPO_Synonym__c":"Inability to produce voice sounds; Voice change","HPO_Name__c":"Dysphonia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003327","HPO_Name__c":"Axial muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lack of facial expression often with staring eyes and a slightly open mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000298","HPO_Synonym__c":"Amimia; Expressionless face; Lack of facial expression; Mask-like facial appearance; Masklike facies","HPO_Name__c":"Mask-like facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100304","HPO_Name__c":"Muscle fiber intranuclear inclusion bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of air a person can forcefully expel in one second.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032342","HPO_Synonym__c":"Reduced FEV1","HPO_Name__c":"Reduced forced expiratory volume in one second","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Very frequent (80-99%)","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:270","HPO_Frequency__c":"Very frequent (80-99%)","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:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the tongue musculature, resulting in difficulties moving the tongue and possible accompanied by dysarthria or dysphagia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000183","HPO_Name__c":"Tongue muscle weakness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:270","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wet voice is a perceptual vocal quality that is gurgly or liquid sounding and is due to the voice being produced through moisture. It is commonly used as an indicator of penetration and/or aspiration in clinical swallowing assessments and bedside screening tests.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6001011","HPO_Name__c":"Wet voice","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neuromuscular medicine"],"Account":["Muscular Dystrophy"]},"synonyms":["muscular dystrophy, oculopharyngeal"," oculopharyngeal dystrophy"," opmd"]}