{"Name":"Oculopharyngodistal myopathy","DiseaseID__c":"GARD:0012592","id":12592,"encodedName":"oculopharyngodistal-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Oculopharyngodistal myopathy","Xref_IDs__c":"763829004; C1834014; C563508; DOID:0081296; MEDGEN:320250; MONDO:0025193; OMIMPS:164310; ORPHA:98897","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0025193","Disease_Description__c":"Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.","GARD_Name__c":"Oculopharyngodistal myopathy","GARD_Synonym__c":"oculopharyngeal distal myopathy; opdm; opdm - oculopharyngodistal myopathy","Curated_Disease_Description_Source__c":"MONDO:0025193","Curated_Disease_Description__c":"Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:98897","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0025193","ORPHANET_ID__c":"ORPHA:98897","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía oculofaringodistal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía oculofaringodistal","Spanish_GARD_Synonym__c":"miopatía oculofaringea distal; opdm","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":"Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.","Curated_Disease_Description_Source__c":"MONDO:0025193","GARD_Synonym__c":"oculopharyngeal distal myopathy; opdm; opdm - oculopharyngodistal myopathy","Name":"Oculopharyngodistal myopathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:98897"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98897"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98897"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1834014"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012592","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/98897","Source__c":"C1834014; MONDO:0025193; ORPHA:98897","Xref__c":"ORPHA:98897"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563508","Source__c":"MONDO:0025193","Xref__c":"C563508"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS164310","Source__c":"MONDO:0025193","Xref__c":"OMIMPS:164310"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=320250","Source__c":"C1834014","Xref__c":"MEDGEN:320250"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763829004","Source__c":"C1834014; MONDO:0025193","Xref__c":"763829004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834014","Source__c":"C1834014","Xref__c":"C1834014"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081296","Source__c":"MONDO:0025193","Xref__c":"DOID:0081296"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0025193","Source__c":"GARD:0012592","Xref__c":"MONDO:0025193"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RILPL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LRP12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NOTCH2NLC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GIPC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ABCD3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUTM2B-AS1","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009053","HPO_Synonym__c":"Distal muscle weakness in lower limbs; Muscle weakness, lower limb, distal","HPO_Name__c":"Distal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal leg muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008944","HPO_Synonym__c":"Lower leg amyotrophy; Lower limb degeneration; Muscle atrophy, lower limb, distal","HPO_Name__c":"Distal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200136","HPO_Synonym__c":"Oral pharyngeal dysphagia; Oropharyngeal dysphagia","HPO_Name__c":"Oral-pharyngeal dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002747","HPO_Synonym__c":"Decreased lung function due to weak breathing muscles; Decreased respiratory function due to muscle weakness; Respiratory distress due to muscle weakness; Respiratory failure due to muscle weakness; Respiratory muscle weakness","HPO_Name__c":"Respiratory insufficiency due to muscle weakness","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Very frequent (80-99%)","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:98897","HPO_Frequency__c":"Occasional (5-29%)","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:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bowing (abnormal curvature) of the vocal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008756","HPO_Name__c":"Bowing of the vocal cords","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A progressive form of ptosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007838","HPO_Synonym__c":"Progressive drooping of upper eyelid","HPO_Name__c":"Progressive ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased strength of the vocal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001604","HPO_Synonym__c":"Hoarse voice due to vocal cord paresis; Vocal cord paresis in severe cases; Weakness of the vocal cords","HPO_Name__c":"Vocal cord paresis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of an orbicularis oris muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000010","HPO_Name__c":"Abnormality of orbicularis oris muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008997","HPO_Synonym__c":"Proximal muscle weakness in upper limbs","HPO_Name__c":"Proximal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Severe or complete weakness of both lower extremities with sparing of the upper extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010550","HPO_Synonym__c":"Leg paralysis","HPO_Name__c":"Paraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","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:98897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A progressive form of sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000408","HPO_Synonym__c":"Bilateral progressive sensorineural hearing loss; Hearing loss, progressive sensorineural; Hearing loss, sensorineural, bilateral, progressive; Hearing loss, sensorineural, progressive; Progressive bilateral sensorineural hearing loss; Sensorineural hearing loss, progressive","HPO_Name__c":"Progressive sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002100","HPO_Synonym__c":"Recurrent pneumonia due to aspiration,","HPO_Name__c":"Recurrent aspiration pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008376","HPO_Synonym__c":"Breathy speech","HPO_Name__c":"Nasal dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031162","HPO_Name__c":"Impaired oropharyngeal swallow response","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030192","HPO_Name__c":"Fatigable weakness of bulbar muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008959","HPO_Name__c":"Distal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000590","HPO_Synonym__c":"External ophthalmoplegia, progressive","HPO_Name__c":"Progressive external ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of any of the muscles of the pharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430015","HPO_Synonym__c":"Abnormality of muscles of the pharynx; Abnormality of musculature of pharynx; Abnormality of pharyngeal musculature; Abnormality of pharynx musculature","HPO_Name__c":"Abnormal morphology of musculature of pharynx","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a high and narrow palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002705","HPO_Synonym__c":"Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth","HPO_Name__c":"High, narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of a masseter muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000005","HPO_Name__c":"Abnormality of masseter muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of strength of the proximal muscles that becomes progressively more severe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009073","HPO_Synonym__c":"Muscle weakness, progressive, proximal","HPO_Name__c":"Progressive proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to walk in a person who previous had the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002505","HPO_Synonym__c":"Loss of ability to walk","HPO_Name__c":"Loss of ambulation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscle weakness affecting the tibialis anterior muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008963","HPO_Name__c":"Tibialis muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal arm muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007149","HPO_Synonym__c":"Distal upper limb muscle atrophy","HPO_Name__c":"Distal upper limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000301","HPO_Synonym__c":"Abnormality of facial muscles; Facial muscle issue","HPO_Name__c":"Abnormality of facial musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000597","HPO_Synonym__c":"Extraocular muscle palsy; Extraocular muscle paralysis; Weakness of extraocular eye movement; Weakness of muscles controlling eye movement","HPO_Name__c":"Ophthalmoparesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002058","HPO_Synonym__c":"Myopathic face; Myopathic facial appearance","HPO_Name__c":"Myopathic facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Progressively reduced strength of the distal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009063","HPO_Synonym__c":"Muscle weakness, distal, progressive; Muscle weakness, progressive, distal","HPO_Name__c":"Progressive distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98897","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["oculopharyngeal distal myopathy"," opdm"," opdm - oculopharyngodistal myopathy"]}