{"Name":"Hereditary spastic paraplegia 30","DiseaseID__c":"GARD:0016942","id":16942,"encodedName":"hereditary-spastic-paraplegia-30","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 30","Xref_IDs__c":"763377006; C170435; C5235139; C563677; DOID:0110781; MEDGEN:1710020; MONDO:0012476; ORPHA:101010","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:0012476","Disease_Description__c":"A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.","GARD_Name__c":"Hereditary spastic paraplegia 30","GARD_Synonym__c":"autosomal spastic paraplegia type 30; hereditary spastic paraplegia caused by mutation in kif1a; hereditary spastic paraplegia type 30; kif1a hereditary spastic paraplegia; spastic paraplegia 30; spastic paraplegia 30, autosomal dominant; spg30","Curated_Disease_Description_Source__c":"MONDO:0012476","Curated_Disease_Description__c":"A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal 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:101010","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0012476","ORPHANET_ID__c":"ORPHA:101010","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica tipo 30","Spanish_Description_Source__c":"ORPHA:101010","Spanish_Description__c":"Es una forma poco frecuente, pura o compleja, de paraparesia espástica hereditaria caracterizada por un fenotipo de paraparesia espástica pura, que suele presentarse en la primera o segunda década de la vida, con extremidades inferiores espásticas, marcha espástica inestable, hiperreflexia y respuestas plantares extensoras, o como un fenotipo complicado con las manifestaciones adicionales de atrofia distal, movimientos oculares sacádicos, ataxia cerebelosa leve y neuropatía axonal leve.","Spanish_Disease_Name__c":"paraplejía espástica autosómica tipo 30","Spanish_GARD_Synonym__c":"spg30","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, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.","Curated_Disease_Description_Source__c":"MONDO:0012476","GARD_Synonym__c":"autosomal spastic paraplegia type 30; hereditary spastic paraplegia caused by mutation in kif1a; hereditary spastic paraplegia type 30; kif1a hereditary spastic paraplegia; spastic paraplegia 30; spastic paraplegia 30, autosomal dominant; spg30","Name":"Hereditary spastic paraplegia 30","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":"Adolescent","Provided_By__c":"ORPHA:101010"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:101010"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763377006","Source__c":"C5235139; MONDO:0012476","Xref__c":"763377006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110781","Source__c":"MONDO:0012476","Xref__c":"DOID:0110781"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5235139","Source__c":"C5235139","Xref__c":"C5235139"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563677","Source__c":"MONDO:0012476","Xref__c":"C563677"},{"URL__c":"https://www.orpha.net/en/disease/detail/101010","Source__c":"C5235139; MONDO:0012476; ORPHA:101010","Xref__c":"ORPHA:101010"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1710020","Source__c":"C5235139","Xref__c":"MEDGEN:1710020"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012476","Source__c":"GARD:0016942","Xref__c":"MONDO:0012476"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C170435","Source__c":"C5235139","Xref__c":"C170435"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KIF1A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:101010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101010","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:101010","HPO_Frequency__c":"Frequent (30-79%)","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:101010","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:101010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000570","HPO_Synonym__c":"Abnormality of saccadic eye movements","HPO_Name__c":"Abnormal saccadic eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101010","HPO_Frequency__c":"Very frequent (80-99%)","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:101010","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012407","HPO_Synonym__c":"Scissor gait; Scissor walk; Scissoring gait; Scissoring of the lower extremities; Scissoring of the lower limbs; Scissors gait","HPO_Name__c":"Scissor gait","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101010","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diffuse unlocalised atrophy affecting the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100275","HPO_Name__c":"Diffuse cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101010","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008969","HPO_Name__c":"Leg muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101010","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:101010","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101010","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:101010","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["autosomal spastic paraplegia type 30"," hereditary spastic paraplegia caused by mutation in kif1a"," hereditary spastic paraplegia type 30"," kif1a hereditary spastic paraplegia"," spastic paraplegia 30"," spastic paraplegia 30, autosomal dominant"," spg30"]}