{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4700&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4660&ordering=-identifier","results":[{"identifier":"Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency.","acronym":"DRDSPRD.","accession":"DI-00411","synonyms":"Motor and cognitive disorder due to sepiapterin reductase deficiency.; Sepiapterin reductase deficiency.; SPR deficiency.; ","cross_references":"MeSH; D011596.","definition":"A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia, dopa-responsive.","acronym":"DRD.","accession":"DI-00415","synonyms":"Autosomal dominant dopa-responsive dystonia.; Autosomal dominant Segawa syndrome.; DRD.; Dystonia 5.; Dystonia-5.; Dystonia-parkinsonism with diurnal fluctuation.; DYT5.; Progressive dystonia with diurnal fluctuation.; ","cross_references":"MeSH; D020821.","definition":"A form of dystonia that responds to L-DOPA treatment without side effects. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DRD typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise. ","keywords":"KW-0908:Parkinsonism.; KW-1023:Dystonia.; "},{"identifier":"Dystonia-deafness syndrome 1.","acronym":"DDS1.","accession":"DI-00412","synonyms":"DJO.; Dystonia, juvenile-onset.; ","cross_references":"MeSH; D004421.","definition":"An autosomal dominant form of dystonia with juvenile onset, associated with congenital or childhood-onset sensorineural deafness. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Some DDS1 patients have dysmorphic features, skeletal anomalies, and/or mild developmental delay with impaired intellectual development. ","keywords":"KW-0209:Deafness.; KW-1023:Dystonia.; "},{"identifier":"Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.","acronym":"DYTOABG.","accession":"DI-04936","synonyms":"Dystonia 29, childhood-onset.; DYT29.; MEPAN syndrome.; ","cross_references":"MeSH; D020821.","definition":"An autosomal recessive neurologic disorder characterized by childhood- onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 9.","acronym":"DYT9.","accession":"DI-03550","synonyms":"CSE.; Dystonia-9.; Episodic choreoathetosis/spasticity.; Kinesigenic choreoathetosis with episodic ataxia and spasticity.; Paroxysmal choreoathetosis with episodic ataxia.; ","cross_references":"MeSH; D009128.","definition":"An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 8.","acronym":"DYT8.","accession":"DI-00417","synonyms":"Choreoathetosis nonkinesigenic.; Dystonia-8.; Familial paroxysmal choreoathetosis.; FPD1.; Mount-Reback syndrome.; Paroxysmal dystonic choreoathetosis.; Paroxysmal nonkinesigenic dyskinesia 1.; PDC.; PNKD1.; ","cross_references":"MeSH; D004421.","definition":"A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 6, torsion.","acronym":"DYT6.","accession":"DI-00416","synonyms":"Adult-onset torsion dystonia mixed type.; Autosomal dominant torsion dystonia 6.; Dystonia-6.; Torsion dystonia type 6.; ","cross_references":"MeSH; D004421.","definition":"A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 4, torsion, autosomal dominant.","acronym":"DYT4.","accession":"DI-03777","synonyms":"Dystonia-4.; Dystonia musculorum deformans 4.; Hereditary whispering dysphonia.; ","cross_references":"MeSH; D004422.","definition":"A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT4 is characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 3, torsion, X-linked.","acronym":"DYT3.","accession":"DI-00414","synonyms":"Dystonia-3.; Lubag.; Torsion dystonia-parkinsonism Filipino type.; XDP.; X-linked dystonia-parkinsonism.; X-linked torsion dystonia 3.; ","cross_references":"MeSH; D004421.","definition":"An X-linked dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is characterized by severe progressive torsion dystonia followed by parkinsonism. It has a well-defined pathology of extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemble that in Huntington disease. ","keywords":"KW-0908:Parkinsonism.; KW-1023:Dystonia.; "},{"identifier":"Dystonia 37, early-onset, with striatal lesions.","acronym":"DYT37.","accession":"DI-06706","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT37 is an autosomal recessive form characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life. Affected individuals show delayed motor development and may have impaired intellectual development. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 35, childhood-onset.","acronym":"DYT35.","accession":"DI-06446","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT35 is an autosomal recessive form characterized by the onset of a dystonic movement disorder in the first year of life. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 34, myoclonic.","acronym":"DYT34.","accession":"DI-06323","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT34 is an autosomal dominant form characterized by childhood-onset dystonia predominantly affecting hands and neck, with a fast tremor with superimposed myoclonus and, in some individuals, subtle cerebellar signs. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 33.","acronym":"DYT33.","accession":"DI-06304","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT33 is a slowly progressive form characterized by onset of focal or generalized dystonia in the first decades of life. Disease manifestations are variable. Some patients show ambulation difficulties, dysarthria, or dysphagia. Some affected individuals may manifest motor delay, lower limb spasticity, and mild developmental delay with intellectual disability. DYT33 penetrance is incomplete. Inheritance can be autosomal dominant or recessive. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 32.","acronym":"DYT32.","accession":"DI-06279","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT32 is an autosomal recessive, slowly progressive form with onset in adulthood and generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 31.","acronym":"DYT31.","accession":"DI-06261","synonyms":"Zech-Boesch syndrome.; ","cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT31 is an autosomal recessive, progressive form with onset from childhood to young adulthood. Involuntary muscle twisting movements and postural abnormalities affect the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 30.","acronym":"DYT30.","accession":"DI-06091","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT30 is characterized by early onset and predominantly cervical, bulbar, orofacial, and upper limb involvement. Some patients have a more complex phenotype with neurocognitive impairment, including mild intellectual disability or psychiatric manifestations. Loss of ambulation is observed in some cases. DYT30 inheritance is autosomal dominant with incomplete penetrance. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 2, torsion, autosomal recessive.","acronym":"DYT2.","accession":"DI-04436","synonyms":"Dystonia musculorum deformans 2.; Torsion dystonia 2.; ","cross_references":"MeSH; D004422.","definition":"A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 28, childhood-onset.","acronym":"DYT28.","accession":"DI-04935","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 27.","acronym":"DYT27.","accession":"DI-04449","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Dystonia 26, myoclonic.","acronym":"DYT26.","accession":"DI-04408","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. ","keywords":"KW-1023:Dystonia.; "}]}