{"Name":"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy","DiseaseID__c":"GARD:0017503","id":17503,"encodedName":"adult-onset-chronic-progressive-external-ophthalmoplegia-with-mitochondrial-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy","Xref_IDs__c":"725464001; C4511138; MEDGEN:1393682; MONDO:0018002; ORPHA:329336","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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018002","Disease_Description__c":"A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.","GARD_Name__c":"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy","GARD_Synonym__c":"adult-onset cpeo (chronic progressive external ophthalmoplegia) with mitochondrial myopathy; adult-onset cpeo with mitochondrial myopathy","Curated_Disease_Description_Source__c":"MONDO:0018002","Curated_Disease_Description__c":"A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:329336","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018002","ORPHANET_ID__c":"ORPHA:329336","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Oftalmoplejía externa progresiva crónica con miopatía mitocondrial de inicio en el adulto","Spanish_Description_Source__c":"ORPHA:329336","Spanish_Description__c":"Es una enfermedad mitocondrial poco frecuente caracterizada por la aparición, en el adulto, de oftalmoplejía externa progresiva, intolerancia al ejercicio, debilidad muscular, episodios de ataxia espinocerebelosa (p. ej., alteraciones en la marcha, disartria) y leve neuropatía motora periférica. En algunos casos se ha descrito insuficiencia respiratoria.","Spanish_Disease_Name__c":"oftalmoplejía externa progresiva crónica con miopatía mitocondrial de inicio en el adulto","Spanish_GARD_Synonym__c":"cpeo del adulto con miopatía mitocondrial","Category_Linearization__c":"ORPHA:68367","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":"A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.","Curated_Disease_Description_Source__c":"MONDO:0018002","GARD_Synonym__c":"adult-onset cpeo (chronic progressive external ophthalmoplegia) with mitochondrial myopathy; adult-onset cpeo with mitochondrial myopathy","Name":"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myop","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"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":"Adult","Provided_By__c":"ORPHA:329336"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK487393","Source__c":"Gene Review","Xref__c":"NBK487393"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1393682","Source__c":"C4511138","Xref__c":"MEDGEN:1393682"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4511138","Source__c":"C4511138","Xref__c":"C4511138"},{"URL__c":"https://www.orpha.net/en/disease/detail/329336","Source__c":"C4511138; MONDO:0018002; ORPHA:329336","Xref__c":"ORPHA:329336"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725464001","Source__c":"C4511138; MONDO:0018002","Xref__c":"725464001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018002","Source__c":"GARD:0017503","Xref__c":"MONDO:0018002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RRM2B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rrm2b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RNASEH1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Mitochondrial inheritance","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:329336","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:329336","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength and weakness of the muscles of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003690","HPO_Synonym__c":"Limb muscle weakness; 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The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002549","HPO_Synonym__c":"Deficit in non-word repetition; Impaired non-word repetition","HPO_Name__c":"Deficit in phonologic short-term memory","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003722","HPO_Synonym__c":"Neck flexion weakness; Neck flexor muscle weakness","HPO_Name__c":"Neck flexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Frequent (30-79%)","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:329336","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002141","HPO_Synonym__c":"Abnormality of balance; Abnormality of equilibrium; Imbalanced walk","HPO_Name__c":"Gait imbalance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of weakness of the muscles involved in breathing (respiration) 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:0030196","HPO_Name__c":"Fatigable weakness of respiratory muscles","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003133","HPO_Synonym__c":"Abnormality of the spinocerebellar tracts","HPO_Name__c":"Abnormal spinocerebellar tract morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","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:329336","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to elicit tendon reflexes in the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002522","HPO_Synonym__c":"Absent lower limb tendon reflexes; Areflexia in lower limbs; Areflexia of the lower limbs; Areflexia, lower limbs","HPO_Name__c":"Areflexia of lower limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","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:329336","HPO_Frequency__c":"Frequent (30-79%)","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:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Frequent (30-79%)","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:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of the electrical continuity between the atria and ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005150","HPO_Name__c":"Abnormal atrioventricular conduction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","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:329336","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The occurrence of an unusually high amount of muscle pain following exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003738","HPO_Synonym__c":"Exercise-induced muscle pain; Muscle pain on exercise; Muscle pain with exercise; Muscle pain, exercise-induced","HPO_Name__c":"Exercise-induced myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Always (100%)","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:329336","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001488","HPO_Synonym__c":"Drooping of both upper eyelids","HPO_Name__c":"Bilateral ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","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:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental and motor abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002361","HPO_Synonym__c":"Psychomotor degeneration","HPO_Name__c":"Psychomotor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329336","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Mitochondrial"],"Specialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Neuro-Ophthalmology","Neuromuscular medicine"],"Account":["Mitochondrial"]},"synonyms":["adult-onset cpeo (chronic progressive external ophthalmoplegia) with mitochondrial myopathy"," adult-onset cpeo with mitochondrial myopathy"]}