{"Name":"Scapuloperoneal spinal muscular atrophy","DiseaseID__c":"GARD:0010314","id":10314,"encodedName":"scapuloperoneal-spinal-muscular-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Scapuloperoneal spinal muscular atrophy","Xref_IDs__c":"230248006; C0751335; DOID:0111552; MEDGEN:148283; MONDO:0008408; OMIM:181405; ORPHA:431255","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:431255","Disease_Description__c":"A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.","GARD_Name__c":"Scapuloperoneal spinal muscular atrophy","GARD_Synonym__c":"amyotrophy, neurogenic scapuloperoneal, new england type; neurogenic scapuloperoneal amyotrophy, new england type; scapuloperoneal form of spinal muscular atrophy; scapuloperoneal neuronopathy; scapuloperoneal spinal muscular atrophy, autosomal dominant; spsma","Curated_Disease_Description_Source__c":"ORPHA:431255","Curated_Disease_Description__c":"A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:431255","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008408","ORPHANET_ID__c":"ORPHA:431255","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal escapuloperoneal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"atrofia muscular espinal escapuloperoneal","Spanish_GARD_Synonym__c":"amiotrofia neurogénica escapuloperoneal tipo nueva inglaterra; neuropatía escapuloperoneal; spsma","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 motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.","Curated_Disease_Description_Source__c":"ORPHA:431255","GARD_Synonym__c":"amyotrophy, neurogenic scapuloperoneal, new england type; neurogenic scapuloperoneal amyotrophy, new england type; scapuloperoneal form of spinal muscular atrophy; scapuloperoneal neuronopathy; scapuloperoneal spinal muscular atrophy, autosomal dominant; spsma","Name":"Scapuloperoneal spinal muscular atrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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":"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:431255"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:431255"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:431255"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010314","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK201366","Source__c":"Gene Review","Xref__c":"NBK201366"},{"URL__c":"https://www.omim.org/entry/181405","Source__c":"C0751335; MONDO:0008408; ORPHA:431255","Xref__c":"OMIM:181405"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0751335","Source__c":"C0751335","Xref__c":"C0751335"},{"URL__c":"https://www.orpha.net/en/disease/detail/431255","Source__c":"C0751335; MONDO:0008408; ORPHA:431255","Xref__c":"ORPHA:431255"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=148283","Source__c":"C0751335","Xref__c":"MEDGEN:148283"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230248006","Source__c":"C0751335; MONDO:0008408","Xref__c":"230248006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111552","Source__c":"MONDO:0008408","Xref__c":"DOID:0111552"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008408","Source__c":"GARD:0010314","Xref__c":"MONDO:0008408"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPV4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trpv4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Disproportionately small hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200055","HPO_Synonym__c":"Disproportionately small hands; Small hand","HPO_Name__c":"Small hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001609","HPO_Synonym__c":"Hoarse voice; Hoarseness; Husky voice","HPO_Name__c":"Hoarse voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003555","HPO_Synonym__c":"Fiber splitting; Fibre splitting; Muscle fiber splitting","HPO_Name__c":"Muscle fiber splitting","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Weakness of the peroneal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011727","HPO_Synonym__c":"Fibularis muscle weakness","HPO_Name__c":"Peroneal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","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:181405","Feature__r":{"HPO_Description__c":"Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009049","HPO_Synonym__c":"Peroneal atrophy","HPO_Name__c":"Peroneal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","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:181405","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001385","HPO_Synonym__c":"Congenital hip dysplasia; DDH; Developmental dysplasia of the hip","HPO_Name__c":"Hip dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","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:181405","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002136","HPO_Synonym__c":"Broad based gait; Wide based gait; Wide based walk; Wide-based gait","HPO_Name__c":"Broad-based gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","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:181405","Feature__r":{"HPO_Description__c":"Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010307","HPO_Name__c":"Stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030084","HPO_Synonym__c":"Permanent curving of the finger","HPO_Name__c":"Clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007178","HPO_Synonym__c":"Peripheral motor neuropathy","HPO_Name__c":"Motor polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003634","HPO_Synonym__c":"Absent muscles since birth; Congenital absence of muscles","HPO_Name__c":"Amyoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006897","HPO_Synonym__c":"Abducens nerve palsy; Abducens nerve paralysis; Abducens nerve paresis; Cranial nerve VI palsy; Lateral rectus muscle denervation paresis; Sixth nerve palsy","HPO_Name__c":"Abducens palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Progressive muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008955","HPO_Name__c":"Progressive distal muscular atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","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:181405","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Progressively reduced strength of the distal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009063","HPO_Synonym__c":"Muscle weakness, distal, progressive; Muscle weakness, progressive, distal","HPO_Name__c":"Progressive distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001840","HPO_Synonym__c":"Forefoot varus; Front half of foot turns inward; Metatarsus adductovarsus; Metatarsus varus; Sickle foot; Sickled feet","HPO_Name__c":"Metatarsus adductus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"A decrease in the strength of the diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009113","HPO_Synonym__c":"Diaphragmatic paraparesis; Weak diaphragm","HPO_Name__c":"Diaphragmatic weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009060","HPO_Name__c":"Scapular muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","Feature__r":{"HPO_Description__c":"A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003391","HPO_Synonym__c":"Gower sign; Positive Gower sign; Positive Gowers sign","HPO_Name__c":"Gowers sign","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:181405","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["amyotrophy, neurogenic scapuloperoneal, new england type"," neurogenic scapuloperoneal amyotrophy, new england type"," scapuloperoneal form of spinal muscular atrophy"," scapuloperoneal neuronopathy"," scapuloperoneal spinal muscular atrophy, autosomal dominant"," spsma"]}