{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6180","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6140","results":[{"identifier":"Spinal muscular atrophy with congenital bone fractures 2.","acronym":"SMABF2.","accession":"DI-04682","synonyms":null,"cross_references":"MeSH; D009134.","definition":"An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinal muscular atrophy with progressive myoclonic epilepsy.","acronym":"SMAPME.","accession":"DI-03504","synonyms":"Hereditary myoclonus with progressive distal muscular atrophy.; ","cross_references":"MeSH; D020191.","definition":"An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency. ","keywords":"KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "},{"identifier":"Spinal muscular atrophy X-linked 2.","acronym":"SMAX2.","accession":"DI-01059","synonyms":"AMC distal X-linked.; AMCX1.; Arthrogryposis multiplex congenita distal X-linked.; Arthrogryposis X-linked type I.; Spinal muscular atrophy infantile X-linked.; Spinal muscular atrophy X-linked lethal infantile.; XLSMA.; ","cross_references":"MeSH; D014897.","definition":"A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Spinocerebellar ataxia 1.","acronym":"SCA1.","accession":"DI-01066","synonyms":"Cerebelloparenchymal disorder I.; CPD1.; Menzel type OPCA.; Olivopontocerebellar atrophy I.; Olivopontocerebellar atrophy IV.; OPCA1.; OPCA4.; OPCA I.; OPCA IV.; Schut-Haymaker type OPCA.; ","cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 10.","acronym":"SCA10.","accession":"DI-01073","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA10 is an autosomal dominant cerebellar ataxia (ADCA). ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 11.","acronym":"SCA11.","accession":"DI-01074","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late- onset, slowly progressive neurologic disorder. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 12.","acronym":"SCA12.","accession":"DI-01075","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA12 is an autosomal dominant cerebellar ataxia (ADCA). ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 13.","acronym":"SCA13.","accession":"DI-01076","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Intellectual disability can be present in some patients. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 14.","acronym":"SCA14.","accession":"DI-01077","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA14 is an autosomal dominant cerebellar ataxia (ADCA). ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 15.","acronym":"SCA15.","accession":"DI-01078","synonyms":"SCA16.; Spinocerebellar ataxia type 16.; ","cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 17.","acronym":"SCA17.","accession":"DI-01079","synonyms":"HDL4.; Huntington disease-like 4.; ","cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 19.","acronym":"SCA19.","accession":"DI-03932","synonyms":"SCA22.; Spinocerebellar ataxia 22.; ","cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 2.","acronym":"SCA2.","accession":"DI-01067","synonyms":"Cerebellar degeneration with slow eye movements.; Olivopontocerebellar atrophy Holguin type.; Olivopontocerebellar atrophy II.; OPCA2.; OPCA II.; SDSEM.; Spinocerebellar ataxia Cuban type.; Spinocerebellar atrophy II.; Spinocerebellar degeneration with slow eye movements.; Wadia-Swami syndrome.; ","cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 20.","acronym":"SCA20.","accession":"DI-03078","synonyms":"Chromosome 11q12 duplication syndrome 260-KB.; Spinocerebellar ataxia with dysphonia.; Spinocerebellar ataxia with spasmodic cough.; ","cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA20 is an autosomal dominant, adult-onset form characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 21.","acronym":"SCA21.","accession":"DI-04256","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA21 is characterized by onset in the first decades of life of slowly progressive relatively mild cerebellar ataxia associated with slight extrapyramidal features predominant in older patients and cognitive impairment predominant in younger patients. ","keywords":"KW-0950:Spinocerebellar ataxia.; KW-0991:Intellectual disability.; "},{"identifier":"Spinocerebellar ataxia 23.","acronym":"SCA23.","accession":"DI-02949","synonyms":null,"cross_references":"MeSH; D020754.","definition":"Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA23 is an adult-onset autosomal dominant form characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 25.","acronym":"SCA25.","accession":"DI-06450","synonyms":null,"cross_references":"MeSH; D020754.","definition":"An autosomal dominant form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA25 is characterized by the onset of lower limb ataxia and gait difficulties in the first few decades of life, although later onset has been reported. There is incomplete penetrance and variable expressivity, even within families. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 26.","acronym":"SCA26.","accession":"DI-03933","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 27A.","acronym":"SCA27A.","accession":"DI-01080","synonyms":"Cerebellar ataxia, autosomal dominant, FGF14-related.; NYS4.; Nystagmus 4, congenital, autosomal dominant.; SCA27.; Spinocerebellar ataxia 27.; Vestibulocerebellar disorder with predominant ocular signs.; ","cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27A is an autosomal dominant, slowly progressive form characterized by gait disturbances, ataxia with tremor, dysarthria, orofacial dyskinesia, gaze-evoked nystagmus, and learning disabilities. There is significant variability, and patients show various combinations of neurologic features. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Spinocerebellar ataxia 27B, late-onset.","acronym":"SCA27B.","accession":"DI-06556","synonyms":null,"cross_references":"MeSH; D020754.","definition":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27B is an autosomal dominant, slowly progressive form characterized by the onset of gait and appendicular ataxia in adulthood. ","keywords":"KW-0950:Spinocerebellar ataxia.; "}]}