{"Name":"GNE myopathy","DiseaseID__c":"GARD:0009493","id":9493,"encodedName":"gne-myopathy","IsDeleted":false,"Disease_Name_Full__c":"GNE myopathy","Xref_IDs__c":"702382000; C176900; C1853926; DOID:0080718; MEDGEN:381298; MONDO:0011603; NBK1262; OMIM:605820; ORPHA:602","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"5,000,000 to 7,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011603","Disease_Description__c":"GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.","GARD_Name__c":"GNE myopathy","GARD_Synonym__c":"distal myopathy with rimmed vacuoles; distal myopathy, nonaka type; dmrv; hereditary inclusion body myopathy; hereditary inclusion body myopathy type 2; hibm2; ibm 2; ibm2; inclusion body myopathy 2; inclusion body myopathy 2, autosomal recessive; inclusion body myopathy autosomal recessive; inclusion body myopathy quadriceps sparing; inclusion body myopathy type 2; inclusion body myopathy, hereditary, autosomal recessive; myopathy, distal, with or without rimmed vacuoles; nm; nonaka distal myopathy; nonaka myopathy; quadricep sparing inclusion body myopathy; quadriceps-sparing myopathy; rimmed vacuole myopathy","Curated_Disease_Description_Source__c":"GARD:0009493","Curated_Disease_Description__c":"GNE myopathy is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes  muscle weakness that appears in late adolescence or early adulthood and worsens over time. Difficulty lifting the front part of the foot (foot drop) is often the first sign of GNE myopathy. For individuals with GNE myopathy, foot drop is caused by weakness of a muscle in the lower leg called the tibialis anterior. This muscle helps raise the foot up. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in the muscles of the upper legs, hips, shoulders, and hands.  Unlike most forms of myopathy, GNE myopathy usually does not affect the quadriceps, which are a group of large muscles at the front of the thigh.  This condition also does not affect the muscles of the eye or heart, and it does not cause neurological problems.  Weakness in leg muscles makes walking increasingly difficult, and most people with GNE myopathy require wheelchair assistance within 20 years after the signs and symptoms of the disorder appear. People with the characteristic features of GNE myopathy have been described in several different populations.  When the condition was first reported in Japanese families, researchers called it distal myopathy with rimmed vacuoles (DMRV) or Nonaka myopathy. When a similar disorder was discovered in Iranian Jewish families, researchers called it rimmed vacuole myopathy or hereditary inclusion body myopathy (HIBM). It has since become clear that these conditions are variations of a single disorder caused by changes in the same gene.","Curated_USA_Estimate_Source__c":"NORD; Orphanet","Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:602","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011603","ORPHANET_ID__c":"ORPHA:602","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía gne","Spanish_Description_Source__c":"ORPHA:602","Spanish_Description__c":"La miopatía GNE es una miopatía distal autosómica recesiva poco frecuente, caracterizada por la aparición de debilidad muscular distal, de lenta a moderamente progresiva, de inicio temprano en el adulto, que afecta preferentemente al músculo tibial anterior y que generalmente respeta el cuadríceps femoral. La biopsia muscular revela la presencia de vacuolas ribeteadas.","Spanish_Disease_Name__c":"miopatía gne","Spanish_GARD_Synonym__c":"dmrv; hibm2; ibm2; miopatía con cuerpos de inclusión tipo 2; miopatía de nonaka; miopatía distal con vacuolas ribeteadas; miopatía distal tipo nonaka; miopatía hereditaria con cuerpos de inclusión tipo 2; miopatía sin afectación del cuadriceps","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":"GNE myopathy is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes  muscle weakness that appears in late adolescence or early adulthood and worsens over time. Difficulty lifting the front part of the foot (foot drop) is often the first sign of GNE myopathy. For individuals with GNE myopathy, foot drop is caused by weakness of a muscle in the lower leg called the tibialis anterior. This muscle helps raise the foot up. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in the muscles of the upper legs, hips, shoulders, and hands.  Unlike most forms of myopathy, GNE myopathy usually does not affect the quadriceps, which are a group of large muscles at the front of the thigh.  This condition also does not affect the muscles of the eye or heart, and it does not cause neurological problems.  Weakness in leg muscles makes walking increasingly difficult, and most people with GNE myopathy require wheelchair assistance within 20 years after the signs and symptoms of the disorder appear. People with the characteristic features of GNE myopathy have been described in several different populations.  When the condition was first reported in Japanese families, researchers called it distal myopathy with rimmed vacuoles (DMRV) or Nonaka myopathy. When a similar disorder was discovered in Iranian Jewish families, researchers called it rimmed vacuole myopathy or hereditary inclusion body myopathy (HIBM). It has since become clear that these conditions are variations of a single disorder caused by changes in the same gene.","Curated_Disease_Description_Source__c":"GARD:0009493","GARD_Synonym__c":"distal myopathy with rimmed vacuoles; distal myopathy, nonaka type; dmrv; hereditary inclusion body myopathy; hereditary inclusion body myopathy type 2; hibm2; ibm 2; ibm2; inclusion body myopathy 2; inclusion body myopathy 2, autosomal recessive; inclusion body myopathy autosomal recessive; inclusion body myopathy quadriceps sparing; inclusion body myopathy type 2; inclusion body myopathy, hereditary, autosomal recessive; myopathy, distal, with or without rimmed vacuoles; nm; nonaka distal myopathy; nonaka myopathy; quadricep sparing inclusion body myopathy; quadriceps-sparing myopathy; rimmed vacuole myopathy","Name":"GNE myopathy","Curated_USA_Estimate__c":"50,000","Curated_USA_Estimate_Source__c":"NORD; Orphanet","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Neuromuscular Disease Foundation","Website__c":"https://CureGNEM.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"World Without GNE Myopathy","Website__c":"https://www.gne-myopathy.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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"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":"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":"Adult","Provided_By__c":"ORPHA:602"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:602"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009493","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1262","Source__c":"Gene Review","Xref__c":"NBK1262"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853926","Source__c":"C1853926","Xref__c":"C1853926"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=381298","Source__c":"C1853926","Xref__c":"MEDGEN:381298"},{"URL__c":"https://www.orpha.net/en/disease/detail/602","Source__c":"C1853926; MONDO:0011603; ORPHA:602","Xref__c":"ORPHA:602"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702382000","Source__c":"C1853926; MONDO:0011603","Xref__c":"702382000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080718","Source__c":"MONDO:0011603","Xref__c":"DOID:0080718"},{"URL__c":"https://www.omim.org/entry/605820","Source__c":"C1853926; MONDO:0011603; ORPHA:602","Xref__c":"OMIM:605820"},{"URL__c":"https://medlineplus.gov/genetics/condition/gne-myopathy","Source__c":"GARD:0009493","Xref__c":"https://medlineplus.gov/genetics/condition/gne-myopathy"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011603","Source__c":"GARD:0009493","Xref__c":"MONDO:0011603"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176900","Source__c":"C1853926","Xref__c":"C176900"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNE","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gne","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:602","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:602","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:602","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030007","HPO_Name__c":"EMG: positive sharp waves","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003438","HPO_Synonym__c":"Absent ankle reflexes","HPO_Name__c":"Absent Achilles reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","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":"ORPHA:602","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009077","HPO_Name__c":"Weakness of long finger extensor muscles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003376","HPO_Synonym__c":"High stepping","HPO_Name__c":"Steppage gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A limitation of the range of movement of the shoulder joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006467","HPO_Synonym__c":"Limited shoulder movement","HPO_Name__c":"Limited shoulder movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to flex the femur, that is, to pull the knee upward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012515","HPO_Name__c":"Hip flexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Very frequent (80-99%)","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:602","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040047","HPO_Synonym__c":"Abnormality of the right hemidiaphragm","HPO_Name__c":"Abnormal right hemidiaphragm morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting the lower limb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007210","HPO_Name__c":"Lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:602","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:602","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003731","HPO_Synonym__c":"Quadriceps weakness","HPO_Name__c":"Quadriceps muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:602","HPO_Frequency__c":"Uncommon (<1-4%)","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:602","HPO_Frequency__c":"Very frequent (80-99%)","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:602","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the musculature of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001436","HPO_Synonym__c":"Abnormal foot muscles","HPO_Name__c":"Abnormality of the foot musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006251","HPO_Name__c":"Limited wrist extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:602","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012548","HPO_Synonym__c":"Skeletal muscle fatty infiltration","HPO_Name__c":"Fatty replacement of skeletal muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100284","HPO_Name__c":"EMG: myotonic discharges","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003805","HPO_Synonym__c":"Rimmed vacuoles on biopsy","HPO_Name__c":"Rimmed vacuoles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:602","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Hematology","Neuromuscular medicine","Pediatrics"]},"synonyms":["distal myopathy with rimmed vacuoles"," distal myopathy, nonaka type"," dmrv"," hereditary inclusion body myopathy"," hereditary inclusion body myopathy type 2"," hibm2"," ibm 2"," ibm2"," inclusion body myopathy 2"," inclusion body myopathy 2, autosomal recessive"," inclusion body myopathy autosomal recessive"," inclusion body myopathy quadriceps sparing"," inclusion body myopathy type 2"," inclusion body myopathy, hereditary, autosomal recessive"," myopathy, distal, with or without rimmed vacuoles"," nm"," nonaka distal myopathy"," nonaka myopathy"," quadricep sparing inclusion body myopathy"," quadriceps-sparing myopathy"," rimmed vacuole myopathy"]}