{"Name":"Progressive scapulohumeroperoneal distal myopathy","DiseaseID__c":"GARD:0017779","id":17779,"encodedName":"progressive-scapulohumeroperoneal-distal-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Progressive scapulohumeroperoneal distal myopathy","Xref_IDs__c":"1217226000; C4225181; MEDGEN:905125; MONDO:0014800; OMIM:616852; ORPHA:447977","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:447977","Disease_Description__c":"A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.","GARD_Name__c":"Progressive scapulohumeroperoneal distal myopathy","GARD_Synonym__c":"myopathy, scapulohumeroperoneal","Curated_Disease_Description_Source__c":"ORPHA:447977","Curated_Disease_Description__c":"A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:447977","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014800","ORPHANET_ID__c":"ORPHA:447977","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía escápulo-húmero-peroneal distal progresiva","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miopatía escápulo-húmero-peroneal distal progresiva","Spanish_GARD_Synonym__c":null,"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 muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.","Curated_Disease_Description_Source__c":"ORPHA:447977","GARD_Synonym__c":"myopathy, scapulohumeroperoneal","Name":"Progressive scapulohumeroperoneal distal myopathy","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":"Infancy","Provided_By__c":"ORPHA:447977"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:447977"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225181","Source__c":"C4225181","Xref__c":"C4225181"},{"URL__c":"https://www.omim.org/entry/616852","Source__c":"C4225181; MONDO:0014800; ORPHA:447977","Xref__c":"OMIM:616852"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=905125","Source__c":"C4225181","Xref__c":"MEDGEN:905125"},{"URL__c":"https://www.orpha.net/en/disease/detail/447977","Source__c":"C4225181; MONDO:0014800; ORPHA:447977","Xref__c":"ORPHA:447977"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014800","Source__c":"GARD:0017779","Xref__c":"MONDO:0014800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1217226000","Source__c":"C4225181","Xref__c":"1217226000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACTA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/acta1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616852","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":"OMIM:616852","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"}},{"Provided_By__c":"OMIM:616852","Feature__r":{"HPO_Description__c":"A contracture of the Achilles tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001771","HPO_Synonym__c":"Achilles tendon contractures; Contractures of the Achilles tendon; Shortening of the achilles tendon; Tight achilles tendon","HPO_Name__c":"Achilles tendon contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616852","HPO_Frequency__c":"Very frequent (80-99%)","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:616852","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616852","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616852","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":"OMIM:616852","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:616852","Feature__r":{"HPO_Description__c":"Muscular atrophy involving the muscles of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009130","HPO_Synonym__c":"Amyotrophy involving the musculature of the hand; Amyotrophy of hand muscles; Hand muscle degeneration; Hand muscle wasting; Hand muscle wasting, bilateral","HPO_Name__c":"Hand muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616852","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":"OMIM:616852","Feature__r":{"HPO_Description__c":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003307","HPO_Synonym__c":"Lordosis; Prominent swayback","HPO_Name__c":"Hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616852","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":"OMIM:616852","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally increased amount of connective tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009025","HPO_Name__c":"Increased connective tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616852","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616852","HPO_Frequency__c":"Very frequent (80-99%)","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:616852","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031189","HPO_Name__c":"Wrist drop","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":["myopathy, scapulohumeroperoneal"]}