{"Name":"Spastic paraplegia-facial-cutaneous lesions syndrome","DiseaseID__c":"GARD:0000806","id":806,"encodedName":"spastic-paraplegia-facial-cutaneous-lesions-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spastic paraplegia-facial-cutaneous lesions syndrome","Xref_IDs__c":"763403007; C2931617; C537797; MEDGEN:419453; MONDO:0017275; ORPHA:2819","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:0017275","Disease_Description__c":"A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.","GARD_Name__c":"Spastic paraplegia-facial-cutaneous lesions syndrome","GARD_Synonym__c":"bahemuka brown syndrome; bahemuka-brown syndrome; spastic paraplegia, facial cutaneous lesion syndrome","Curated_Disease_Description_Source__c":"MONDO:0017275","Curated_Disease_Description__c":"A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:2819","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017275","ORPHANET_ID__c":"ORPHA:2819","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de paraplejía espástica-lesiones cutáneas faciales","Spanish_Description_Source__c":"ORPHA:2819","Spanish_Description__c":"Es una forma compleja de paraplejía espástica hereditaria caracterizada por retraso del desarrollo motor seguido de paraplejía espástica lentamente progresiva (que afecta principalmente a las extremidades inferiores) asociada a un sarpullido facial descamativo en forma de mariposa (que se presenta alrededor de los dos meses de edad) y disartria. No ha habido descripciones adicionales en la literatura desde 1982.","Spanish_Disease_Name__c":"síndrome de paraplejía espástica-lesiones cutáneas faciales","Spanish_GARD_Synonym__c":"síndrome de bahemuka-brown","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 delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.","Curated_Disease_Description_Source__c":"MONDO:0017275","GARD_Synonym__c":"bahemuka brown syndrome; bahemuka-brown syndrome; spastic paraplegia, facial cutaneous lesion syndrome","Name":"Spastic paraplegia-facial-cutaneous lesions syndrome","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":"Infancy","Provided_By__c":"ORPHA:2819"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931617","Source__c":"C2931617","Xref__c":"C2931617"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763403007","Source__c":"C2931617; MONDO:0017275","Xref__c":"763403007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419453","Source__c":"C2931617","Xref__c":"MEDGEN:419453"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537797","Source__c":"MONDO:0017275","Xref__c":"C537797"},{"URL__c":"https://www.orpha.net/en/disease/detail/2819","Source__c":"C2931617; MONDO:0017275; ORPHA:2819","Xref__c":"ORPHA:2819"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017275","Source__c":"GARD:0000806","Xref__c":"MONDO:0017275"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2819","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:2819","HPO_Frequency__c":"Very frequent (80-99%)","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:2819","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2819","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe or complete weakness of both lower extremities with sparing of the upper extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010550","HPO_Synonym__c":"Leg paralysis","HPO_Name__c":"Paraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2819","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2819","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:2819","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2819","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2819","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia"]},"synonyms":["bahemuka brown syndrome"," bahemuka-brown syndrome"," spastic paraplegia, facial cutaneous lesion syndrome"]}