{"Name":"Kennedy disease","DiseaseID__c":"GARD:0006818","id":6818,"encodedName":"kennedy-disease","IsDeleted":false,"Disease_Name_Full__c":"Kennedy disease","Xref_IDs__c":"C1839259; C85233; D055534; DOID:0060161; MEDGEN:333282; MONDO:0010735; OMIM:313200; ORPHA:481","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010735","Disease_Description__c":"Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.","GARD_Name__c":"Kennedy disease","GARD_Synonym__c":"kennedy spinal and bulbar muscular atrophy; kennedy's disease; sbma; smax1; spinal and bulbar muscular atrophy; spinal and bulbar muscular atrophy of kennedy, x-linked recessive; spinal and bulbar muscular atrophy, x-linked 1; spinal and bulbar muscular atrophy, x-linked type 1; spinal bulbar muscular atrophy; spinobulbar muscular atrophy; x-linked bsma; x-linked bulbo-spinal atrophy; x-linked bulbospinal amyotrophy; x-linked bulbospinal muscular atrophy; x-linked spinal and bulbar muscular atrophy","Curated_Disease_Description_Source__c":"GARD:0006818","Curated_Disease_Description__c":"Kennedy disease is a gradually progressive, neuromuscular disorder characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat). The condition mainly affects adult males. Early symptoms may include tremor, muscle cramps, and muscle twitching. This is followed by progressive muscle weakness and wasting, which may manifest in a variety of ways. Other symptoms include gynecomastia, testicular atrophy (reduction in size or function of the testes), and reduced fertility as a result of mild androgen insensitivity. Kennedy disease is caused by a genetic change in the androgen receptor (AR) gene and is inherited in an X-linked recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:481","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010735","ORPHANET_ID__c":"ORPHA:481","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de kennedy","Spanish_Description_Source__c":"ORPHA:481","Spanish_Description__c":"La enfermedad de Kennedy, también conocida como amioatrofia bulboespinal (BSMA), es una enfermedad rara de la neurona motora, de herencia recesiva ligada al X, caracterizada por una pérdida de masa muscular proximal y bulbar.","Spanish_Disease_Name__c":"enfermedad de kennedy","Spanish_GARD_Synonym__c":"amiotrofia bulboespinal ligada al cromosoma x; atrofia muscular bulbar y espinal ligada al cromosoma x; atrofia muscular bulboespinal ligada al cromosoma x; atrofia muscular espinobulbar asociada a smax1; sbma; sbma ligada al cromosoma x; smax1","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":"Kennedy disease is a gradually progressive, neuromuscular disorder characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat). The condition mainly affects adult males. Early symptoms may include tremor, muscle cramps, and muscle twitching. This is followed by progressive muscle weakness and wasting, which may manifest in a variety of ways. Other symptoms include gynecomastia, testicular atrophy (reduction in size or function of the testes), and reduced fertility as a result of mild androgen insensitivity. Kennedy disease is caused by a genetic change in the androgen receptor (AR) gene and is inherited in an X-linked recessive manner.","Curated_Disease_Description_Source__c":"GARD:0006818","GARD_Synonym__c":"kennedy spinal and bulbar muscular atrophy; kennedy's disease; sbma; smax1; spinal and bulbar muscular atrophy; spinal and bulbar muscular atrophy of kennedy, x-linked recessive; spinal and bulbar muscular atrophy, x-linked 1; spinal and bulbar muscular atrophy, x-linked type 1; spinal bulbar muscular atrophy; spinobulbar muscular atrophy; x-linked bsma; x-linked bulbo-spinal atrophy; x-linked bulbospinal amyotrophy; x-linked bulbospinal muscular atrophy; x-linked spinal and bulbar muscular atrophy","Name":"Kennedy disease","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Motor Neurone Disease Association","Website__c":"https://www.mndassociation.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Muscular Dystrophy Family Foundation","Website__c":"https://mdff.org/"},{"Account_Name__c":"Kennedy's Disease Association","Website__c":"https://kennedysdisease.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Cure SMA","Website__c":"https://www.curesma.org/"},{"Account_Name__c":"Cure SMA Canada","Website__c":"https://curesma.ca/"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:481"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1839259"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006818","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1333","Source__c":"Gene Review","Xref__c":"NBK1333"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C055534","Source__c":"C1839259; MONDO:0010735","Xref__c":"D055534"},{"URL__c":"https://www.omim.org/entry/313200","Source__c":"C1839259; MONDO:0010735; ORPHA:481","Xref__c":"OMIM:313200"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060161","Source__c":"MONDO:0010735","Xref__c":"DOID:0060161"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85233","Source__c":"C1839259; MONDO:0010735","Xref__c":"C85233"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839259","Source__c":"C1839259","Xref__c":"C1839259"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333282","Source__c":"C1839259","Xref__c":"MEDGEN:333282"},{"URL__c":"https://www.orpha.net/en/disease/detail/481","Source__c":"C1839259; MONDO:0010735; ORPHA:481","Xref__c":"ORPHA:481"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010735","Source__c":"GARD:0006818","Xref__c":"MONDO:0010735"},{"URL__c":"https://medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy","Source__c":"GARD:0006818","Xref__c":"https://medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ar","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:481","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:481","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005978","HPO_Synonym__c":"Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes","HPO_Name__c":"Type II diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:481","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:481","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of a lipid in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003119","HPO_Name__c":"Abnormal circulating lipid concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:481","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:481","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100639","HPO_Synonym__c":"Abnormal erection; Erectile abnormalities","HPO_Name__c":"Erectile dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:481","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000144","HPO_Synonym__c":"Abnormal fertility; Decreased fertility","HPO_Name__c":"Decreased fertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:481","HPO_Frequency__c":"Very frequent (80-99%)","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:481","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000029","HPO_Synonym__c":"Testicular degeneration","HPO_Name__c":"Testicular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:481","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:481","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:481","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001618","HPO_Synonym__c":"Inability to produce voice sounds; Voice change","HPO_Name__c":"Dysphonia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:481","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","Endocrine"],"Specialist":["Genetics","Neurology","Endocrine","Urologist","Neuromuscular medicine"],"Account":["Infertility"]},"synonyms":["kennedy spinal and bulbar muscular atrophy"," kennedy's disease"," sbma"," smax1"," spinal and bulbar muscular atrophy"," spinal and bulbar muscular atrophy of kennedy, x-linked recessive"," spinal and bulbar muscular atrophy, x-linked 1"," spinal and bulbar muscular atrophy, x-linked type 1"," spinal bulbar muscular atrophy"," spinobulbar muscular atrophy"," x-linked bsma"," x-linked bulbo-spinal atrophy"," x-linked bulbospinal amyotrophy"," x-linked bulbospinal muscular atrophy"," x-linked spinal and bulbar muscular atrophy"]}