{"Name":"Desmin-related myofibrillar myopathy","DiseaseID__c":"GARD:0016870","id":16870,"encodedName":"desmin-related-myofibrillar-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Desmin-related myofibrillar myopathy","Xref_IDs__c":"770627003; C1832370; C206515; DOID:0080092; MEDGEN:330449; MONDO:0011076; OMIM:601419; ORPHA:98909","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0011076","Disease_Description__c":"A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.","GARD_Name__c":"Desmin-related myofibrillar myopathy","GARD_Synonym__c":"autosomal recessive limb-girdle muscular dystrophy caused by mutation in des; autosomal recessive limb-girdle muscular dystrophy type 2r; des autosomal recessive limb-girdle muscular dystrophy; des myofibrillar myopathy (disease); desmin related myopathy (former name); desmin storage myopathy (former name); desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy; desminopathy; limb-girdle muscular dystrophy type 1d; mfm1; myofibrillar myopathy (disease) caused by mutation in des; myofibrillar myopathy 1; myofibrillar myopathy type 1; myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy; myopathy, myofibrillar, type 1","Curated_Disease_Description_Source__c":"MONDO:0011076","Curated_Disease_Description__c":"A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.","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:98909","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011076","ORPHANET_ID__c":"ORPHA:98909","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Desminopatía","Spanish_Description_Source__c":"ORPHA:98909","Spanish_Description__c":"Es una enfermedad músculoesquelética, genética y poco frecuente, caracterizada por agregados quiméricos anómalos de desmina y otras proteínas citoesqueléticas y material granulofilamentoso a nivel ultraestructural en biopsias musculares, así como características clínicas / miopatológicas, edad de inicio y tasa de progresión de la enfermedad variables. Los afectados presentan debilidad muscular esquelética bilateral que comienza en los músculos distales de las piernas y progresa proximalmente, afectando ocasionalmente al tronco, los flexores del cuello y los músculos faciales. Con frecuencia, los afectados presentan miocardiopatía, que se manifiesta por bloqueos de conducción, arritmias, insuficiencia cardíaca crónica y, en ocasiones, taquiarritmia. La debilidad conduce eventualmente a dependencia de la silla de ruedas. La insuficiencia respiratoria puede ser una causa importante de discapacidad y fallecimiento, comenzando con hiperventilación nocturna con desaturación de oxígeno que progresa a insuficiencia respiratoria diurna.","Spanish_Disease_Name__c":"desminopatía","Spanish_GARD_Synonym__c":"miopatía miofibrilar asociada a la desmina","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 skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.","Curated_Disease_Description_Source__c":"MONDO:0011076","GARD_Synonym__c":"autosomal recessive limb-girdle muscular dystrophy caused by mutation in des; autosomal recessive limb-girdle muscular dystrophy type 2r; des autosomal recessive limb-girdle muscular dystrophy; des myofibrillar myopathy (disease); desmin related myopathy (former name); desmin storage myopathy (former name); desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy; desminopathy; limb-girdle muscular dystrophy type 1d; mfm1; myofibrillar myopathy (disease) caused by mutation in des; myofibrillar myopathy 1; myofibrillar myopathy type 1; myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy; myopathy, myofibrillar, type 1","Name":"Desmin-related myofibrillar myopathy","estimateUsa":""}],"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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"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:98909"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98909"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98909"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98909"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/98909","Source__c":"C1832370; MONDO:0011076; ORPHA:98909","Xref__c":"ORPHA:98909"},{"URL__c":"https://www.omim.org/entry/601419","Source__c":"C1832370; MONDO:0011076; ORPHA:98909","Xref__c":"OMIM:601419"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080092","Source__c":"MONDO:0011076","Xref__c":"DOID:0080092"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832370","Source__c":"C1832370","Xref__c":"C1832370"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330449","Source__c":"C1832370","Xref__c":"MEDGEN:330449"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770627003","Source__c":"C1832370","Xref__c":"770627003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011076","Source__c":"GARD:0016870","Xref__c":"MONDO:0011076"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C206515","Source__c":"C1832370","Xref__c":"C206515"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DES","GHR_URL__c":"https://medlineplus.gov/genetics/gene/des","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98909","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005115","HPO_Synonym__c":"Supraventricular arrhythmias","HPO_Name__c":"Supraventricular arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98909","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98909","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:98909","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:98909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98909","HPO_Frequency__c":"Occasional (5-29%)","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:98909","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005157","HPO_Synonym__c":"Symmetric, concentric, hypertrophic cardiomyopathy","HPO_Name__c":"Concentric hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98909","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001678","HPO_Synonym__c":"Interruption of electrical communication between upper and lower chambers of heart","HPO_Name__c":"Atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98909","HPO_Frequency__c":"Frequent (30-79%)","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:98909","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:98909","HPO_Frequency__c":"Frequent (30-79%)","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:98909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005659","HPO_Name__c":"Thoracic kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98909","HPO_Frequency__c":"Very frequent (80-99%)","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:98909","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003306","HPO_Synonym__c":"Reduced spine movement; Rigid spine","HPO_Name__c":"Spinal rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98909","HPO_Frequency__c":"Very frequent (80-99%)","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:98909","HPO_Frequency__c":"Occasional (5-29%)","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:98909","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:98909","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003323","HPO_Synonym__c":"Muscle weakness, progressive; Progressive muscular weakness","HPO_Name__c":"Progressive muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["autosomal recessive limb-girdle muscular dystrophy caused by mutation in des"," autosomal recessive limb-girdle muscular dystrophy type 2r"," des autosomal recessive limb-girdle muscular dystrophy"," des myofibrillar myopathy (disease)"," desmin related myopathy (former name)"," desmin storage myopathy (former name)"," desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy"," desminopathy"," limb-girdle muscular dystrophy type 1d"," mfm1"," myofibrillar myopathy (disease) caused by mutation in des"," myofibrillar myopathy 1"," myofibrillar myopathy type 1"," myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy"," myopathy, myofibrillar, type 1"]}