{"Name":"Myosin storage myopathy","DiseaseID__c":"GARD:0015429","id":15429,"encodedName":"myosin-storage-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Myosin storage myopathy","Xref_IDs__c":"699267007; C1842160; C564253; DOID:0111269; MEDGEN:374868; MONDO:0008409; OMIM:608358; ORPHA:636965","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:608358","Disease_Description__c":"Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by {7:Dye et al., 2006}).","GARD_Name__c":"Myosin storage myopathy","GARD_Synonym__c":"autosomal dominant myosin storage myopathy; cmyo7a; congenital myopathy 7a, myosin storage, autosomal dominant; msma; myh7-related myosin storage myopathy; myh7-related scapuloperoneal myopathy; myopathy with lysis of type 1 myofibrils; myopathy with lysis of type i myofibrils; myopathy, hyaline body, autosomal dominant; myopathy, myosin storage, autosomal dominant; scapuloperoneal muscular dystrophy; scapuloperoneal myopathy, myh7-related; scapuloperoneal syndrome, myopathic type; spmd; spmm","Curated_Disease_Description_Source__c":"OMIM:608358","Curated_Disease_Description__c":"Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:608358","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008409","ORPHANET_ID__c":"ORPHA:636965","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía por almacenamiento de miosina autosómica dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía por almacenamiento de miosina autosómica dominante","Spanish_GARD_Synonym__c":"msma","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":"Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing.","Curated_Disease_Description_Source__c":"OMIM:608358","GARD_Synonym__c":"autosomal dominant myosin storage myopathy; cmyo7a; congenital myopathy 7a, myosin storage, autosomal dominant; msma; myh7-related myosin storage myopathy; myh7-related scapuloperoneal myopathy; myopathy with lysis of type 1 myofibrils; myopathy with lysis of type i myofibrils; myopathy, hyaline body, autosomal dominant; myopathy, myosin storage, autosomal dominant; scapuloperoneal muscular dystrophy; scapuloperoneal myopathy, myh7-related; scapuloperoneal syndrome, myopathic type; spmd; spmm","Name":"Myosin storage myopathy","estimateUsa":""}],"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":"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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/636965","Source__c":"MONDO:0008409","Xref__c":"ORPHA:636965"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374868","Source__c":"C1842160","Xref__c":"MEDGEN:374868"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111269","Source__c":"MONDO:0008409","Xref__c":"DOID:0111269"},{"URL__c":"https://www.omim.org/entry/608358","Source__c":"MONDO:0008409; ORPHA:636965","Xref__c":"OMIM:608358"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564253","Source__c":"MONDO:0008409","Xref__c":"C564253"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842160","Source__c":"C1842160","Xref__c":"C1842160"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008409","Source__c":"GARD:0015429","Xref__c":"MONDO:0008409"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699267007","Source__c":"C1842160","Xref__c":"699267007"},{"URL__c":"https://medlineplus.gov/genetics/condition/myosin-storage-myopathy","Source__c":"GARD:0015429","Xref__c":"https://medlineplus.gov/genetics/condition/myosin-storage-myopathy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYH7","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myh7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Amyotrophy affecting the muscles of the shoulder girdle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003724","HPO_Synonym__c":"Shoulder girdle atrophy; Shoulder girdle muscle wasting; Shoulder-girdle muscle atrophy","HPO_Name__c":"Shoulder girdle muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","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":"OMIM:608358","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":"OMIM:608358","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:608358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002792","HPO_Synonym__c":"Decreased vital capacity","HPO_Name__c":"Reduced vital capacity","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal protrusion of the scapula away from the surface of the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003691","HPO_Synonym__c":"Scapula alata; Winged scapulae; Winged scapulas; Winged shoulder blade","HPO_Name__c":"Scapular winging","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002527","HPO_Synonym__c":"Falls","HPO_Name__c":"Falls","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003547","HPO_Synonym__c":"Muscle weakness, shoulder-girdle; Shoulder girdle weakness; Shoulder weakness; Weak shoulder muscles","HPO_Name__c":"Shoulder girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","Feature__r":{"HPO_Description__c":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003324","HPO_Synonym__c":"Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalized","HPO_Name__c":"Generalized muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:608358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to run.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009046","HPO_Synonym__c":"Difficulty running","HPO_Name__c":"Difficulty running","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003707","HPO_Synonym__c":"Pseudohypertrophy of the calves","HPO_Name__c":"Calf muscle pseudohypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008180","HPO_Synonym__c":"Mildly elevated CPK; Mildly elevated creatine phosphokinase; Mildly elevated serum CK; Mildly elevated serum CPK; Mildly elevated serum phospho-CK; Mildly increased creatine kinase; Mildly increased serum creatine kinase; Moderately elevated serum CK; Moderately elevated serum CPK; Moderately increased serum creatine kinase","HPO_Name__c":"Mildly elevated creatine kinase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003749","HPO_Synonym__c":"Hip girdle muscle weakness; Hip girdle weakness; Hip-girdle muscle weakness; Pelvic girdle weakness","HPO_Name__c":"Pelvic girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","Feature__r":{"HPO_Description__c":"Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009055","HPO_Synonym__c":"Generalized muscle atrophy, proximal and distal; Generalized muscle wasting","HPO_Name__c":"Generalized limb muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002515","HPO_Synonym__c":"Waddling gait; Waddling walk","HPO_Name__c":"Waddling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003704","HPO_Synonym__c":"Neurogenic scapuloperoneal syndrome","HPO_Name__c":"Scapuloperoneal weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","Feature__r":{"HPO_Description__c":"Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003697","HPO_Synonym__c":"Scapuloperoneal atrophy","HPO_Name__c":"Scapuloperoneal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","Feature__r":{"HPO_Description__c":"An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003687","HPO_Synonym__c":"Central nuclei; Centralized nuclei; Centralized sarcomeric nuclei","HPO_Name__c":"Centrally nucleated skeletal muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608358","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:608358","Feature__r":{"HPO_Description__c":"An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003803","HPO_Synonym__c":"Type I muscle fiber predominance","HPO_Name__c":"Type 1 muscle fiber predominance","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Muscular Dystrophy"]},"synonyms":["autosomal dominant myosin storage myopathy"," cmyo7a"," congenital myopathy 7a, myosin storage, autosomal dominant"," msma"," myh7-related myosin storage myopathy"," myh7-related scapuloperoneal myopathy"," myopathy with lysis of type 1 myofibrils"," myopathy with lysis of type i myofibrils"," myopathy, hyaline body, autosomal dominant"," myopathy, myosin storage, autosomal dominant"," scapuloperoneal muscular dystrophy"," scapuloperoneal myopathy, myh7-related"," scapuloperoneal syndrome, myopathic type"," spmd"," spmm"]}