{"Name":"Hereditary spastic paraplegia 39","DiseaseID__c":"GARD:0004924","id":4924,"encodedName":"hereditary-spastic-paraplegia-39","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 39","Xref_IDs__c":"719103009; C2677586; C567433; DOID:0110790; MEDGEN:383142; MONDO:0012787; OMIM:612020; ORPHA:139480","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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012787","Disease_Description__c":"A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy.","GARD_Name__c":"Hereditary spastic paraplegia 39","GARD_Synonym__c":"autosomal recessive spastic paraplegia 39; autosomal recessive spastic paraplegia type 39; hereditary spastic paraplegia caused by mutation in pnpla6; hereditary spastic paraplegia type 39; nte-related motor neuron disorder; ntemnd; pnpla6 hereditary spastic paraplegia; spastic paraplegia 39, autosomal recessive; spastic paraplegia due to neuropathy target esterase mutation; spastic paraplegia due to nte (neuropathy target esterase) mutation; spastic paraplegia due to nte mutation; spg39","Curated_Disease_Description_Source__c":"MONDO:0012787","Curated_Disease_Description__c":"A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:139480","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0012787","ORPHANET_ID__c":"ORPHA:139480","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 39","Spanish_Description_Source__c":"ORPHA:139480","Spanish_Description__c":"Es una paraplejía espástica compleja autosómica recesiva poco frecuente caracterizada por afectación de la motoneurona superior y neuropatía periférica de inicio entre la infancia y la edad adulta temprana. Los pacientes presentan espasticidad progresiva, hiperreflexia y atrofia muscular distal superior e inferior. También se ha descrito afectación del funcionamiento cognitivo y ataxia cerebelosa. Las neuroimágenes pueden revelar atrofia cerebelosa y/o de la médula espinal.","Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 39","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 autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy.","Curated_Disease_Description_Source__c":"MONDO:0012787","GARD_Synonym__c":"autosomal recessive spastic paraplegia 39; autosomal recessive spastic paraplegia type 39; hereditary spastic paraplegia caused by mutation in pnpla6; hereditary spastic paraplegia type 39; nte-related motor neuron disorder; ntemnd; pnpla6 hereditary spastic paraplegia; spastic paraplegia 39, autosomal recessive; spastic paraplegia due to neuropathy target esterase mutation; spastic paraplegia due to nte (neuropathy target esterase) mutation; spastic paraplegia due to nte mutation; spg39","Name":"Hereditary spastic paraplegia 39","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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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:139480"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2677586"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004924","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK247161","Source__c":"Gene Review","Xref__c":"NBK247161"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567433","Source__c":"MONDO:0012787","Xref__c":"C567433"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383142","Source__c":"C2677586","Xref__c":"MEDGEN:383142"},{"URL__c":"https://www.omim.org/entry/612020","Source__c":"C2677586; MONDO:0012787; ORPHA:139480","Xref__c":"OMIM:612020"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110790","Source__c":"MONDO:0012787","Xref__c":"DOID:0110790"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2677586","Source__c":"C2677586","Xref__c":"C2677586"},{"URL__c":"https://www.orpha.net/en/disease/detail/139480","Source__c":"C2677586; MONDO:0012787; ORPHA:139480","Xref__c":"ORPHA:139480"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719103009","Source__c":"C2677586; MONDO:0012787","Xref__c":"719103009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012787","Source__c":"GARD:0004924","Xref__c":"MONDO:0012787"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PNPLA6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pnpla6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:139480","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009055","HPO_Synonym__c":"Generalized muscle atrophy, proximal and distal; Generalized muscle wasting","HPO_Name__c":"Generalized limb muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139480","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139480","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139480","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006827","HPO_Synonym__c":"Degeneration of the spinal cord","HPO_Name__c":"Atrophy of the spinal cord","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139480","HPO_Frequency__c":"Frequent (30-79%)","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:139480","HPO_Frequency__c":"Frequent (30-79%)","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:139480","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007002","HPO_Name__c":"Motor axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139480","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001258","HPO_Synonym__c":"Spastic paraplegia, lower limb","HPO_Name__c":"Spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139480","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["autosomal recessive spastic paraplegia 39"," autosomal recessive spastic paraplegia type 39"," hereditary spastic paraplegia caused by mutation in pnpla6"," hereditary spastic paraplegia type 39"," nte-related motor neuron disorder"," ntemnd"," pnpla6 hereditary spastic paraplegia"," spastic paraplegia 39, autosomal recessive"," spastic paraplegia due to neuropathy target esterase mutation"," spastic paraplegia due to nte (neuropathy target esterase) mutation"," spastic paraplegia due to nte mutation"," spg39"]}