{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4500","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4460","results":[{"identifier":"Myokymia isolated 1.","acronym":"MK1.","accession":"DI-00793","synonyms":null,"cross_references":"MeSH; D020385.","definition":"A condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance. ","keywords":null},{"identifier":"Myopathy, autosomal recessive, with rigid spine and distal joint contractures.","acronym":"MRRSDC.","accession":"DI-04804","synonyms":"LGMD2Y.; Limb-girdle muscular dystrophy 2Y.; Muscular dystrophy, limb-girdle, type 2Y.; ","cross_references":"MeSH; D049288.","definition":"An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life. ","keywords":"KW-0947:Limb-girdle muscular dystrophy.; "},{"identifier":"Myopathy, centronuclear, 1.","acronym":"CNM1.","accession":"DI-00252","synonyms":"Autosomal dominant myotubular myopathy.; Centronuclear myopathy autosomal dominant.; ","cross_references":"MeSH; D020914.","definition":"A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. ","keywords":null},{"identifier":"Myopathy, centronuclear, 2.","acronym":"CNM2.","accession":"DI-00253","synonyms":"Autosomal recessive myotubular myopathy.; Centronuclear myopathy autosomal recessive.; ","cross_references":"MeSH; D020914.","definition":"A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. ","keywords":null},{"identifier":"Myopathy, centronuclear, 4.","acronym":"CNM4.","accession":"DI-03519","synonyms":null,"cross_references":"MeSH; D020914.","definition":"A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. ","keywords":null},{"identifier":"Myopathy, centronuclear, 5.","acronym":"CNM5.","accession":"DI-04210","synonyms":null,"cross_references":"MeSH; D020914.","definition":"A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM5 features include severe neonatal hypotonia with respiratory insufficiency, difficulty feeding, and delayed motor development. Some patients die in infancy, and some develop dilated cardiomyopathy. ","keywords":null},{"identifier":"Myopathy, centronuclear, 6, with fiber-type disproportion.","acronym":"CNM6.","accession":"DI-05139","synonyms":null,"cross_references":"MeSH; D020914.","definition":"A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. ","keywords":null},{"identifier":"Myopathy, centronuclear, X-linked.","acronym":"CNMX.","accession":"DI-00254","synonyms":"MTM1.; Myotubular myopathy type 1.; X-linked myotubular myopathy.; XLMTM.; ","cross_references":"MeSH; D020914.","definition":"A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. ","keywords":null},{"identifier":"Myopathy, distal, 1.","acronym":"MPD1.","accession":"DI-01873","synonyms":"Distal myopathy 1.; Laing distal myopathy.; Laing early-onset distal myopathy.; Myopathy distal early-onset autosomal dominant.; Myopathy late distal hereditary.; ","cross_references":"MeSH; D049310.","definition":"A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. ","keywords":null},{"identifier":"Myopathy, distal, 3.","acronym":"MPD3.","accession":"DI-06754","synonyms":"Finnish upper limb onset distal myopathy.; ","cross_references":"MeSH; D049310.","definition":"An autosomal dominant skeletal muscle disorder characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties. Proximal muscle involvement may occur later in the disease, but patients typically remain ambulatory. Muscle biopsy shows myopathic changes with rimmed vacuoles. ","keywords":null},{"identifier":"Myopathy, distal, 4.","acronym":"MPD4.","accession":"DI-03144","synonyms":"Williams distal myopathy.; ","cross_references":"MeSH; D049310.","definition":"A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non- specific changes with no evidence of rods, necrosis, or inflammation. ","keywords":null},{"identifier":"Myopathy, distal, 5.","acronym":"MPD5.","accession":"DI-04761","synonyms":null,"cross_references":"MeSH; D049310.","definition":"A form of distal myopathy, a group of muscular disorders characterized by progressive muscular weakness and muscle atrophy beginning in the hands, the legs or the feet. MPD5 is an autosomal recessive form, predominantly affecting the lower limbs. ","keywords":null},{"identifier":"Myopathy, distal, 6, adult onset, autosomal dominant.","acronym":"MPD6.","accession":"DI-05701","synonyms":null,"cross_references":"MeSH; D009135.","definition":"An autosomal dominant muscular disorder characterized by adult onset of asymmetric distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles. ","keywords":null},{"identifier":"Myopathy, distal, 7, adult-onset, X-linked.","acronym":"MPD7.","accession":"DI-06378","synonyms":null,"cross_references":"MeSH; D009135.","definition":"An X-linked recessive, slowly progressive muscular disorder characterized by adult onset of distal muscle weakness predominantly, affecting the lower limbs. Some patients also have proximal muscle weakness. Histopathological and electron microscopic analysis of patient muscle biopsies reveals myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. ","keywords":null},{"identifier":"Myopathy, distal, Tateyama type.","acronym":"MPDT.","accession":"DI-03297","synonyms":null,"cross_references":"MeSH; D049310.","definition":"A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet. ","keywords":null},{"identifier":"Myopathy, distal, with rimmed vacuoles.","acronym":"DMRV.","accession":"DI-04886","synonyms":"MSP4.; Multisystem proteinopathy 4.; ","cross_references":"MeSH; D009135.","definition":"An autosomal dominant myopathy with adult onset, characterized by muscle weakness of the distal upper and lower limbs, walking difficulties, and proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles. ","keywords":null},{"identifier":"Myopathy due to myoadenylate deaminase deficiency.","acronym":"MMDD.","accession":"DI-00039","synonyms":"Adenosine monophosphate deaminase deficiency muscle type.; AMPD1 deficiency.; AMP deaminase deficiency muscle type.; MAD deficiency.; Myoadenylate deaminase deficiency.; ","cross_references":"MeSH; D008661.","definition":"A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. ","keywords":null},{"identifier":"Myopathy, epilepsy, and progressive cerebral atrophy.","acronym":"MEPCA.","accession":"DI-05924","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by severe, early lethal neurodegeneration, myasthenic and myopathic features, progressive cerebral atrophy with myelination defects, and intractable epilepsy. ","keywords":"KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Myopathy, isolated mitochondrial, autosomal dominant.","acronym":"IMMD.","accession":"DI-04333","synonyms":null,"cross_references":"MeSH; D017240.","definition":"A mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles. ","keywords":null},{"identifier":"Myopathy, lactic acidosis, and sideroblastic anemia 3.","acronym":"MLASA3.","accession":"DI-04410","synonyms":null,"cross_references":"MeSH; D000756.","definition":"A rare mitochondrial disorder characterized by sideroblastic anemia, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. Additional MLASA3 features are failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay. ","keywords":"KW-1274:Primary mitochondrial disease.; "}]}