{"Name":"Distal myopathy with anterior tibial onset","DiseaseID__c":"GARD:0017080","id":17080,"encodedName":"distal-myopathy-with-anterior-tibial-onset","IsDeleted":false,"Disease_Name_Full__c":"Distal myopathy with anterior tibial onset","Xref_IDs__c":"782675008; C1847532; C564664; DOID:0111187; MEDGEN:335706; MONDO:0011721; OMIM:606768; ORPHA:178400","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:178400","Disease_Description__c":"Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.","GARD_Name__c":"Distal myopathy with anterior tibial onset","GARD_Synonym__c":"distal anterior compartment myopathy","Curated_Disease_Description_Source__c":"ORPHA:178400","Curated_Disease_Description__c":"A rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:178400","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011721","ORPHANET_ID__c":"ORPHA:178400","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía distal de inicio en el músculo tibial anterior","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía distal de inicio en el músculo tibial anterior","Spanish_GARD_Synonym__c":"miopatía de compartimento distal anterior","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 neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.","Curated_Disease_Description_Source__c":"ORPHA:178400","GARD_Synonym__c":"distal anterior compartment myopathy","Name":"Distal myopathy with anterior tibial onset","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"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:178400"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:178400"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564664","Source__c":"MONDO:0011721","Xref__c":"C564664"},{"URL__c":"https://www.orpha.net/en/disease/detail/178400","Source__c":"C1847532; MONDO:0011721; ORPHA:178400","Xref__c":"ORPHA:178400"},{"URL__c":"https://www.omim.org/entry/606768","Source__c":"C1847532; MONDO:0011721; ORPHA:178400","Xref__c":"OMIM:606768"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335706","Source__c":"C1847532","Xref__c":"MEDGEN:335706"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111187","Source__c":"MONDO:0011721","Xref__c":"DOID:0111187"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847532","Source__c":"C1847532","Xref__c":"C1847532"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782675008","Source__c":"C1847532","Xref__c":"782675008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011721","Source__c":"GARD:0017080","Xref__c":"MONDO:0011721"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DYSF","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dysf","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:178400","HPO_Frequency__c":"Excluded (0%)","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:178400","HPO_Frequency__c":"Occasional (5-29%)","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:178400","HPO_Frequency__c":"Frequent (30-79%)","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:178400","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:178400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030114","HPO_Name__c":"Absent muscle fiber dysferlin","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178400","HPO_Frequency__c":"Excluded (0%)","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:178400","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178400","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031177","HPO_Name__c":"Finger flexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178400","HPO_Frequency__c":"Very frequent (80-99%)","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:178400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009005","HPO_Name__c":"Weakness of the intrinsic hand muscles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178400","HPO_Frequency__c":"Frequent (30-79%)","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:178400","HPO_Frequency__c":"Occasional (5-29%)","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:178400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008954","HPO_Name__c":"Intrinsic hand muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["distal anterior compartment myopathy"]}