{"Name":"Hereditary spastic paraplegia 31","DiseaseID__c":"GARD:0010817","id":10817,"encodedName":"hereditary-spastic-paraplegia-31","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 31","Xref_IDs__c":"763068005; C1853247; C189921; C565210; DOID:0110782; MEDGEN:377858; MONDO:0012453; OMIM:610250; ORPHA:101011","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012453","Disease_Description__c":"A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.","GARD_Name__c":"Hereditary spastic paraplegia 31","GARD_Synonym__c":"autosomal dominant spastic paraplegia 31; autosomal dominant spastic paraplegia type 31; hereditary spastic paraplegia caused by mutation in reep1; hereditary spastic paraplegia type 31; reep1 hereditary spastic paraplegia; spastic paraplegia 31; spastic paraplegia 31, autosomal dominant; spg31","Curated_Disease_Description_Source__c":"MONDO:0012453","Curated_Disease_Description__c":"A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:101011","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012453","ORPHANET_ID__c":"ORPHA:101011","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica dominante tipo 31","Spanish_Description_Source__c":"ORPHA:101011","Spanish_Description__c":"Es un tipo de paraparesia espástica hereditaria generalmente caracterizada por un fenotipo puro de debilidad proximal de las extremidades inferiores con marcha espástica y reflejos vivos, con una edad de inicio bimodal en la infancia o en la edad adulta (>30 años). En algunos casos, puede presentarse como un fenotipo complejo con otras manifestaciones asociadas incluyendo neuropatía periférica, parálisis bulbar (con disartria y disfagia), amiotrofia distal y alteración distal de la sensibilidad vibratoria.","Spanish_Disease_Name__c":"paraplejía espástica autosómica dominante tipo 31","Spanish_GARD_Synonym__c":"spg31","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 type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.","Curated_Disease_Description_Source__c":"MONDO:0012453","GARD_Synonym__c":"autosomal dominant spastic paraplegia 31; autosomal dominant spastic paraplegia type 31; hereditary spastic paraplegia caused by mutation in reep1; hereditary spastic paraplegia type 31; reep1 hereditary spastic paraplegia; spastic paraplegia 31; spastic paraplegia 31, autosomal dominant; spg31","Name":"Hereditary spastic paraplegia 31","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.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":"Hereditary Spastic Paraplegia","Tag_Category__c":"Account","curated_tag_name":"Hereditary spastic paraplegia"},{"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":"Childhood","Provided_By__c":"ORPHA:101011"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1853247"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010817","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/101011","Source__c":"C1853247; MONDO:0012453; ORPHA:101011","Xref__c":"ORPHA:101011"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565210","Source__c":"MONDO:0012453","Xref__c":"C565210"},{"URL__c":"https://www.omim.org/entry/610250","Source__c":"C1853247; MONDO:0012453; ORPHA:101011","Xref__c":"OMIM:610250"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763068005","Source__c":"C1853247; MONDO:0012453","Xref__c":"763068005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377858","Source__c":"C1853247","Xref__c":"MEDGEN:377858"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110782","Source__c":"MONDO:0012453","Xref__c":"DOID:0110782"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853247","Source__c":"C1853247","Xref__c":"C1853247"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C189921","Source__c":"C1853247","Xref__c":"C189921"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012453","Source__c":"GARD:0010817","Xref__c":"MONDO:0012453"},{"URL__c":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31","Source__c":"GARD:0010817","Xref__c":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"REEP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/reep1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:101011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A loss or impairment of the sensation of the relative position of parts of the body and joint position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010831","HPO_Synonym__c":"Abnormality of proprioception","HPO_Name__c":"Impaired proprioception","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002395","HPO_Synonym__c":"Brisk lower extremity reflexes; Hyperreflexia in lower limbs; Hyperreflexia in the lower limbs; Increased deep tendon reflexes in the lower limbs; Leg hyperreflexia; Overactive lower leg reflex","HPO_Name__c":"Lower limb hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001348","HPO_Synonym__c":"Brisk deep tendon reflexes","HPO_Name__c":"Brisk reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:101011","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007350","HPO_Synonym__c":"Hyperreflexia in upper limbs","HPO_Name__c":"Upper limb hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030237","HPO_Synonym__c":"Hand muscle weakness","HPO_Name__c":"Hand muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spastic weakness affecting all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001285","HPO_Synonym__c":"Spastic quadriparesis","HPO_Name__c":"Spastic tetraparesis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008994","HPO_Synonym__c":"Muscle weakness, proximal, lower limbs; Proximal muscle weakness in lower limbs","HPO_Name__c":"Proximal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002064","HPO_Synonym__c":"Spastic walk","HPO_Name__c":"Spastic gait","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002483","HPO_Name__c":"Bulbar signs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:101011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008956","HPO_Synonym__c":"Amyotrophy involving the thigh; Amyotrophy of the thigh musculature; Proximal lower limb muscle atrophy; Thigh muscle atrophy; Wasting of thigh muscle","HPO_Name__c":"Proximal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101011","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["autosomal dominant spastic paraplegia 31"," autosomal dominant spastic paraplegia type 31"," hereditary spastic paraplegia caused by mutation in reep1"," hereditary spastic paraplegia type 31"," reep1 hereditary spastic paraplegia"," spastic paraplegia 31"," spastic paraplegia 31, autosomal dominant"," spg31"]}