{"Name":"Peripheral motor neuropathy-dysautonomia syndrome","DiseaseID__c":"GARD:0003791","id":3791,"encodedName":"peripheral-motor-neuropathy-dysautonomia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Peripheral motor neuropathy-dysautonomia syndrome","Xref_IDs__c":"C1854961; C536988; MEDGEN:381527; MONDO:0009648; OMIM:252320; ORPHA:2400","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009648","Disease_Description__c":"Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.","GARD_Name__c":"Peripheral motor neuropathy-dysautonomia syndrome","GARD_Synonym__c":"hereditary dysautonomia with motor neuropathy; lisker garcia ramos syndrome; lisker-garcia-ramos syndrome; peripheral motor neuropathy associated with autonomic dysfunction; peripheral motor neuropathy dysautonomia syndrome","Curated_Disease_Description_Source__c":"ORPHA:2400","Curated_Disease_Description__c":"A rare peripheral motor neuropathy characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, and autonomic dysfunction, manifesting as profuse sweating, cold-induced distal cyanosis, orthostatic hypotension, and esophageal achalasia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2400","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009648","ORPHANET_ID__c":"ORPHA:2400","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de neuropatía motora periférica-disautonomía","Spanish_Description_Source__c":"ORPHA:2400","Spanish_Description__c":"Es un síndrome caracterizado por debilidad muscular distal lenta y progresiva, amiotrofia con inicio en la infancia, y disfunción autonómica caracterizada por sudoración profusa, cianosis distal relacionada con el clima frío, hipotensión ortostática y acalasia esofágica. Se ha descrito en dos hermanas. La transmisión parece ser de carácter autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de neuropatía motora periférica-disautonomía","Spanish_GARD_Synonym__c":"síndrome de lisker-garcía-ramos","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 peripheral motor neuropathy characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, and autonomic dysfunction, manifesting as profuse sweating, cold-induced distal cyanosis, orthostatic hypotension, and esophageal achalasia.","Curated_Disease_Description_Source__c":"ORPHA:2400","GARD_Synonym__c":"hereditary dysautonomia with motor neuropathy; lisker garcia ramos syndrome; lisker-garcia-ramos syndrome; peripheral motor neuropathy associated with autonomic dysfunction; peripheral motor neuropathy dysautonomia syndrome","Name":"Peripheral motor neuropathy-dysautonomia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dysautonomia International","Website__c":"https://www.dysautonomiainternational.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2400"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=381527","Source__c":"C1854961","Xref__c":"MEDGEN:381527"},{"URL__c":"https://www.orpha.net/en/disease/detail/2400","Source__c":"C1854961; MONDO:0009648; ORPHA:2400","Xref__c":"ORPHA:2400"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536988","Source__c":"MONDO:0009648","Xref__c":"C536988"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854961","Source__c":"C1854961","Xref__c":"C1854961"},{"URL__c":"https://www.omim.org/entry/252320","Source__c":"C1854961; MONDO:0009648; ORPHA:2400","Xref__c":"OMIM:252320"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009648","Source__c":"GARD:0003791","Xref__c":"MONDO:0009648"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230557001","Source__c":"C1854961","Xref__c":"230557001"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin of the hands or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001063","HPO_Synonym__c":"Persistent blue color of hands or feet","HPO_Name__c":"Acrocyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002571","HPO_Synonym__c":"Achalasia of the esophagus","HPO_Name__c":"Achalasia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:2400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["hereditary dysautonomia with motor neuropathy"," lisker garcia ramos syndrome"," lisker-garcia-ramos syndrome"," peripheral motor neuropathy associated with autonomic dysfunction"," peripheral motor neuropathy dysautonomia syndrome"]}