{"Name":"Myofibrillar myopathy 2","DiseaseID__c":"GARD:0017651","id":17651,"encodedName":"myofibrillar-myopathy-2","IsDeleted":false,"Disease_Name_Full__c":"Myofibrillar myopathy 2","Xref_IDs__c":"C1837317; C206516; C563848; DOID:0080093; MEDGEN:324735; MONDO:0012130; OMIM:608810; ORPHA:399058","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012130","Disease_Description__c":"Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.","GARD_Name__c":"Myofibrillar myopathy 2","GARD_Synonym__c":"alpha-b crystallin-related late-onset distal myopathy; alpha-b crystallin-related late-onset myopathy; alpha-b crystallinopathy; autosomal dominant distal myopathy caused by mutation in cryab; cryab autosomal dominant distal myopathy; cryab-related myofibrillar myopathy; late-onset distal crystallinopathy; myofibrillar myopathy type 2; myopathy, desmin-related, associated with mutation in the cryab gene; myopathy, myofibrillar, 2a, adult-onset; myopathy, myofibrillar, alpha-b crystallin-related; myopathy, myofibrillar, type 2; myopathy, myofibrillar, with or without cataract and/or cardiomyopathy","Curated_Disease_Description_Source__c":"ORPHA:399058","Curated_Disease_Description__c":"A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:399058","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012130","ORPHANET_ID__c":"ORPHA:399058","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía de inicio tardío asociada a alfa-b-cristalina","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía de inicio tardío asociada a alfa-b-cristalina","Spanish_GARD_Synonym__c":"cristalinopatía distal de inicio tardío; miopatía distal de inicio tardío asociada a alfa-b-cristalina","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":"A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes.","Curated_Disease_Description_Source__c":"ORPHA:399058","GARD_Synonym__c":"alpha-b crystallin-related late-onset distal myopathy; alpha-b crystallin-related late-onset myopathy; alpha-b crystallinopathy; autosomal dominant distal myopathy caused by mutation in cryab; cryab autosomal dominant distal myopathy; cryab-related myofibrillar myopathy; late-onset distal crystallinopathy; myofibrillar myopathy type 2; myopathy, desmin-related, associated with mutation in the cryab gene; myopathy, myofibrillar, 2a, adult-onset; myopathy, myofibrillar, alpha-b crystallin-related; myopathy, myofibrillar, type 2; myopathy, myofibrillar, with or without cataract and/or cardiomyopathy","Name":"Myofibrillar myopathy 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"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:399058"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837317","Source__c":"C1837317","Xref__c":"C1837317"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080093","Source__c":"MONDO:0012130","Xref__c":"DOID:0080093"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563848","Source__c":"MONDO:0012130","Xref__c":"C563848"},{"URL__c":"https://www.omim.org/entry/608810","Source__c":"C1837317; MONDO:0012130; ORPHA:399058","Xref__c":"OMIM:608810"},{"URL__c":"https://www.orpha.net/en/disease/detail/399058","Source__c":"C1837317; MONDO:0012130","Xref__c":"ORPHA:399058"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324735","Source__c":"C1837317","Xref__c":"MEDGEN:324735"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012130","Source__c":"GARD:0017651","Xref__c":"MONDO:0012130"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C206516","Source__c":"C1837317","Xref__c":"C206516"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRYAB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:399058","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100299","HPO_Name__c":"Muscle fiber inclusion bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:399058","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:399058","HPO_Frequency__c":"Frequent (30-79%)","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:399058","HPO_Frequency__c":"Very frequent (80-99%)","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:399058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which muscles cannot be moved quickly without accompanying pain or spasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003552","HPO_Name__c":"Muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399058","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003736","HPO_Name__c":"Autophagic vacuoles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399058","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:399058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001349","HPO_Synonym__c":"Bilateral facial weakness; Facial paresis, bilateral","HPO_Name__c":"Facial diplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399058","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal circulating creatine kinase concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040081","HPO_Synonym__c":"Abnormal circulating CK concentration; Abnormal circulating CPK concentration; Abnormal circulation phospho-CK concentration; Abnormal levels of creatine kinase in blood","HPO_Name__c":"Abnormal circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:399058","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased strength of the neck musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000467","HPO_Synonym__c":"Floppy neck; Neck muscle weakness","HPO_Name__c":"Neck muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399058","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:399058","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030225","HPO_Synonym__c":"Muscle fiber desmin-reactive inclusion bodies","HPO_Name__c":"Accumulation of muscle fiber desmin","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399058","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:399058","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:399058","HPO_Frequency__c":"Occasional (5-29%)","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:399058","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003557","HPO_Synonym__c":"Increased fiber size variation; Increased variability in muscle fiber size; Increased variation in fiber size; Increased variation in muscle fiber size; Variation in muscle fiber size","HPO_Name__c":"Increased variability in muscle fiber diameter","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399058","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:399058","HPO_Frequency__c":"Very frequent (80-99%)","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:399058","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399058","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100020","HPO_Name__c":"Posterior capsular cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399058","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine"],"Account":["Muscular Dystrophy","Cardiomyopathy"]},"synonyms":["alpha-b crystallin-related late-onset distal myopathy"," alpha-b crystallin-related late-onset myopathy"," alpha-b crystallinopathy"," autosomal dominant distal myopathy caused by mutation in cryab"," cryab autosomal dominant distal myopathy"," cryab-related myofibrillar myopathy"," late-onset distal crystallinopathy"," myofibrillar myopathy type 2"," myopathy, desmin-related, associated with mutation in the cryab gene"," myopathy, myofibrillar, 2a, adult-onset"," myopathy, myofibrillar, alpha-b crystallin-related"," myopathy, myofibrillar, type 2"," myopathy, myofibrillar, with or without cataract and/or cardiomyopathy"]}