{"Name":"Hereditary spastic paraplegia 36","DiseaseID__c":"GARD:0017472","id":17472,"encodedName":"hereditary-spastic-paraplegia-36","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 36","Xref_IDs__c":"723819007; C2936879; C567930; DOID:0110787; MEDGEN:422457; MONDO:0013132; OMIM:613096; ORPHA:320365","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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013132","Disease_Description__c":"A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.","GARD_Name__c":"Hereditary spastic paraplegia 36","GARD_Synonym__c":"autosomal dominant spastic paraplegia 36; autosomal dominant spastic paraplegia type 36; hereditary spastic paraplegia type 36; spastic paraplegia 36, autosomal dominant; spg36","Curated_Disease_Description_Source__c":"MONDO:0013132","Curated_Disease_Description__c":"A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.","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:320365","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013132","ORPHANET_ID__c":"ORPHA:320365","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica dominante tipo 36","Spanish_Description_Source__c":"ORPHA:320365","Spanish_Description__c":"Es una forma compleja de paraparesia espástica hereditaria de inicio en la infancia o en la edad adulta caracterizada por paraparesia espástica progresiva (con marcha espástica, espasticidad, debilidad de miembros inferiores, pie cavo y urgencia urinaria) asociada con la manifestación adicional de neuropatía sensitivo-motora periférica.","Spanish_Disease_Name__c":"paraplejía espástica autosómica dominante tipo 36","Spanish_GARD_Synonym__c":"spg36","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 complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.","Curated_Disease_Description_Source__c":"MONDO:0013132","GARD_Synonym__c":"autosomal dominant spastic paraplegia 36; autosomal dominant spastic paraplegia type 36; hereditary spastic paraplegia type 36; spastic paraplegia 36, autosomal dominant; spg36","Name":"Hereditary spastic paraplegia 36","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Adult","Provided_By__c":"ORPHA:320365"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:320365"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2936879","Source__c":"C2936879","Xref__c":"C2936879"},{"URL__c":"https://www.omim.org/entry/613096","Source__c":"C2936879; MONDO:0013132; ORPHA:320365","Xref__c":"OMIM:613096"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110787","Source__c":"MONDO:0013132","Xref__c":"DOID:0110787"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567930","Source__c":"MONDO:0013132","Xref__c":"C567930"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=422457","Source__c":"C2936879","Xref__c":"MEDGEN:422457"},{"URL__c":"https://www.orpha.net/en/disease/detail/320365","Source__c":"C2936879; MONDO:0013132; ORPHA:320365","Xref__c":"ORPHA:320365"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723819007","Source__c":"C2936879; MONDO:0013132","Xref__c":"723819007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013132","Source__c":"GARD:0017472","Xref__c":"MONDO:0013132"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Urge incontinence is the strong, sudden need to urinate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000012","HPO_Synonym__c":"Overactive bladder; Urgent micturition; Urinary urgency","HPO_Name__c":"Urinary urgency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","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 occurring at distal joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006858","HPO_Synonym__c":"Distal sensory loss of proprioception","HPO_Name__c":"Impaired distal proprioception","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration in the distal portions of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006886","HPO_Synonym__c":"Decreased distal vibration sense","HPO_Name__c":"Impaired distal vibration sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Demyelination of peripheral motor nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007220","HPO_Name__c":"Demyelinating motor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","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:320365","HPO_Frequency__c":"Occasional (5-29%)","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:320365","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007020","HPO_Name__c":"Progressive spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Demyelination of peripheral sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011402","HPO_Name__c":"Demyelinating sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to discriminate between different temperatures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010829","HPO_Synonym__c":"Abnormality of temperature sensation; Impaired temperature sensation; Impaired thermal sensitivity; Loss of temperature sensation","HPO_Name__c":"Impaired temperature sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006937","HPO_Synonym__c":"Decreased distal touch sense; Decreased touch sensation in extremities","HPO_Name__c":"Impaired distal tactile sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002061","HPO_Synonym__c":"Lower extremities spasticity; Lower extremity spasticity; Spastic lower extremities; Spastic lower extremity; Spastic lower limb; Spastic lower limbs; Spasticity in lower extremities; Spasticity in lower extremity; Spasticity in lower limb; Spasticity in lower limbs; Spasticity of lower extremities; Spasticity of lower extremity; Spasticity of lower limb; Spasticity of lower limbs","HPO_Name__c":"Lower limb spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320365","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012747","HPO_Name__c":"Abnormal brainstem MRI signal intensity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["autosomal dominant spastic paraplegia 36"," autosomal dominant spastic paraplegia type 36"," hereditary spastic paraplegia type 36"," spastic paraplegia 36, autosomal dominant"," spg36"]}