{"Name":"Multiple system atrophy","DiseaseID__c":"GARD:0007079","id":7079,"encodedName":"multiple-system-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Multiple system atrophy","Xref_IDs__c":"230297002; 423022630; C0393571; C84909; D019578; DOID:4752; MEDGEN:98276; MONDO:0007803; OMIM:146500; ORPHA:102","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007803","Disease_Description__c":"Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.","GARD_Name__c":"Multiple system atrophy","GARD_Synonym__c":"msa; msa - multiple system atrophy; multisystem atrophy; shy-drager syndrome","Curated_Disease_Description_Source__c":"GARD:0007079","Curated_Disease_Description__c":"Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men. Researchers have described two major types of multiple system atrophy, which are distinguished by their major signs and symptoms at the time of diagnosis. In one type, known as MSA-P, a group of movement abnormalities called parkinsonism are predominant. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). The other type of multiple system atrophy, known as MSA-C, is characterized by cerebellar ataxia, which causes problems with coordination and balance. This form of the condition can also include speech difficulties (dysarthria) and problems controlling eye movement. Multiple system atrophy usually occurs in older adults; on average, signs and symptoms appear around age 55. The condition worsens with time, and affected individuals survive an average of 10 years after the signs and symptoms first appear.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:102","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007803","ORPHANET_ID__c":"ORPHA:102","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia multisistémica","Spanish_Description_Source__c":"ORPHA:102","Spanish_Description__c":"La atrofia multisistémica (AMS) es un trastorno neurodegenerativo caracterizado por una insuficiencia neurovegetativa (cardiovascular, urinaria o ambas), parkinsonismo, discapacidad cerebelosa y signos corticoespinales con una supervivencia media de entre seis y nueve años.","Spanish_Disease_Name__c":"atrofia multisistémica","Spanish_GARD_Synonym__c":"ams","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":"Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men. Researchers have described two major types of multiple system atrophy, which are distinguished by their major signs and symptoms at the time of diagnosis. In one type, known as MSA-P, a group of movement abnormalities called parkinsonism are predominant. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). The other type of multiple system atrophy, known as MSA-C, is characterized by cerebellar ataxia, which causes problems with coordination and balance. This form of the condition can also include speech difficulties (dysarthria) and problems controlling eye movement. Multiple system atrophy usually occurs in older adults; on average, signs and symptoms appear around age 55. The condition worsens with time, and affected individuals survive an average of 10 years after the signs and symptoms first appear.","Curated_Disease_Description_Source__c":"GARD:0007079","GARD_Synonym__c":"msa; msa - multiple system atrophy; multisystem atrophy; shy-drager syndrome","Name":"Multiple system atrophy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dysautonomia Support Network","Website__c":"https://www.dysautonomiasupport.org/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.org/"},{"Account_Name__c":"Dysautonomia International","Website__c":"https://www.dysautonomiainternational.org/"},{"Account_Name__c":"Multiple System Atrophy Research Consortium","Website__c":"https://www.msaunited.org"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"CurePSP","Website__c":"https://www.psp.org/"},{"Account_Name__c":"National Dysautonomia Research Foundation","Website__c":"http://www.ndrf.org"},{"Account_Name__c":"Mission MSA","Website__c":"https://missionmsa.org/"},{"Account_Name__c":"Multiple System Atrophy Trust","Website__c":"https://www.msatrust.org.uk/"},{"Account_Name__c":"Dysautonomia Information Network","Website__c":"https://www.dinet.org/"},{"Account_Name__c":"Defeat MSA Alliance","Website__c":"https://defeatmsa.org/"},{"Account_Name__c":"Parkinson's Foundation","Website__c":"https://www.parkinson.org/"}],"GARD_Disease_Tag__c":[{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:102"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C019578","Source__c":"C0393571; MONDO:0007803","Xref__c":"D019578"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393571","Source__c":"C0393571","Xref__c":"C0393571"},{"URL__c":"https://www.orpha.net/en/disease/detail/102","Source__c":"C0393571; MONDO:0007803; ORPHA:102","Xref__c":"ORPHA:102"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84909","Source__c":"C0393571; MONDO:0007803","Xref__c":"C84909"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4752","Source__c":"MONDO:0007803","Xref__c":"DOID:4752"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98276","Source__c":"C0393571","Xref__c":"MEDGEN:98276"},{"URL__c":"https://www.omim.org/entry/146500","Source__c":"ORPHA:102","Xref__c":"OMIM:146500"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230297002","Source__c":"C0393571","Xref__c":"230297002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007803","Source__c":"GARD:0007079","Xref__c":"MONDO:0007803"},{"URL__c":"https://medlineplus.gov/genetics/condition/multiple-system-atrophy","Source__c":"GARD:0007079","Xref__c":"https://medlineplus.gov/genetics/condition/multiple-system-atrophy"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022630","Xref__c":"423022630"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/multiple-system-atrophy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COQ2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/coq2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010536","HPO_Synonym__c":"Central sleep apnoea","HPO_Name__c":"Central sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","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:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008652","HPO_Synonym__c":"Impotence due to autonomic dysfunction","HPO_Name__c":"Autonomic erectile dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012658","HPO_Synonym__c":"Abnormal brain FDG PET scan","HPO_Name__c":"Abnormal brain FDG positron emission tomography","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_PET"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002067","HPO_Synonym__c":"Slow movements; Slowness of movements","HPO_Name__c":"Bradykinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002494","HPO_Synonym__c":"Abnormal REM sleep","HPO_Name__c":"Abnormal rapid eye movement sleep","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002359","HPO_Synonym__c":"Frequent falls","HPO_Name__c":"Frequent falls","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002310","HPO_Synonym__c":"Orofacial dyskinesias","HPO_Name__c":"Orofacial dyskinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002322","HPO_Synonym__c":"Rest tremor; Resting tremor; Tremor at rest","HPO_Name__c":"Resting tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010307","HPO_Name__c":"Stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030015","HPO_Name__c":"Female anorgasmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100595","HPO_Name__c":"Camptocormia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nystagmus made apparent by looking to the right or to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000640","HPO_Name__c":"Gaze-evoked nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004926","HPO_Name__c":"Orthostatic hypotension due to autonomic dysfunction","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030880","HPO_Synonym__c":"Raynaud's phenomenon","HPO_Name__c":"Raynaud phenomenon","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of tremors that is triggered by holding a limb in a fixed position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002174","HPO_Name__c":"Postural tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005341","HPO_Name__c":"Autonomic bladder dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002530","HPO_Synonym__c":"Truncal dystonia","HPO_Name__c":"Axial dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:102","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Syncope following a quick change in position from lying down to standing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012670","HPO_Name__c":"Orthostatic syncope","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology"]},"synonyms":["msa"," msa - multiple system atrophy"," multisystem atrophy"," shy-drager syndrome"],"spanishId":13419,"spanishName":"atrofia-multisistemica"}