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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4520&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4480&ordering=identifier",
"results": [
{
"identifier": "Myopathy, mitochondrial, and ataxia.",
"acronym": "MMYAT.",
"accession": "DI-05086",
"synonyms": null,
"cross_references": "MeSH; D009468.",
"definition": "A neuromuscular disorder characterized by muscle weakness and atrophy, ataxia, poor growth, delayed motor development, dysdiadochokinesia, dysmetria and additional neurologic features. Some patients show skeletal and endocrine anomalies, as well as behavioral psychiatric manifestations. MMYAT transmission pattern is consistent with autosomal dominant inheritance in some families, and autosomal recessive inheritance in others. ",
"keywords": null
},
{
"identifier": "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay.",
"acronym": "MPMCD.",
"accession": "DI-02638",
"synonyms": "Combined mitochondrial complex deficiency.; Myopathy with cataract and combined respiratory chain deficiency.; ",
"cross_references": "MeSH; D017240.",
"definition": "A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay. ",
"keywords": "KW-0209:Deafness.; KW-0898:Cataract.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Myopathy, myofibrillar, 1.",
"acronym": "MFM1.",
"accession": "DI-01481",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 7.; ARVC7.; ARVD7.; Autosomal dominant inclusion body myopathy 1.; CDCD3.; CMD1F and LGMD1D.; Desminopathy primary.; Desmin-related myopathy.; Desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy.; Dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D.; Dilated cardiomyopathy with conduction defect and muscular dystrophy.; DRM.; Familial arrhythmogenic right ventricular dysplasia 7.; LGMD2R.; Limb-girdle muscular dystrophy 2R.; MFM desmin-related.; Muscular dystrophy, limb-girdle, type 2R.; Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy.; Myopathy myofibrillar desmin-related.; ",
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin- reactive deposits in cardiac and skeletal muscle cells. ",
"keywords": "KW-0911:Desmin-related myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 10.",
"acronym": "MFM10.",
"accession": "DI-05925",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM10 is an autosomal recessive disorder characterized by muscle pain, cramping, exercise fatigue, and progressive muscle rigidity. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 11.",
"acronym": "MFM11.",
"accession": "DI-06043",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM11 is an autosomal recessive form characterized by onset of slowly progressive proximal muscle weakness in the first decade of life. More variable features may include decreased respiratory forced vital capacity, variable cardiac features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic changes with variation in fiber size, type 1 fiber predominance, centralized nuclei, eccentrically placed core-like lesions, and distortion of the myofibrillary pattern with Z-line streaming and abnormal myofibrillar aggregates or inclusions. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy.",
"acronym": "MFM12.",
"accession": "DI-06176",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM12 is an autosomal recessive, severe form characterized by progressive myopathy with onset shortly after birth, tremor or clonus at birth, and cardiomyopathy usually leading to death by 6 months of age. Skeletal and cardiac muscle tissues show fiber-type disproportion with small type I and normal sized type II fibers, and myofibrillar disorganization. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 2.",
"acronym": "MFM2.",
"accession": "DI-01179",
"synonyms": "Alpha-B crystallinopathy.; Alpha-B crystallinopathy with cataract.; Desmin-related myopathy with cataract.; MFM alpha-B crystallin-related.; Myofibrillar myopathy alpha-B crystallin-related.; Myofibrillar myopathy with or without cataract and/or cardiomyopathy.; Myopathy cardioskeletal desmin-related with cataract.; Myopathy desmin-related associated with mutation in the CRYAB gene.; ",
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 3.",
"acronym": "MFM3.",
"accession": "DI-02022",
"synonyms": "LGMD1.; LGMD1A.; Limb-girdle muscular dystrophy 1A.; MFM myotilin-related.; Muscular dystrophy, limb-girdle, type 1.; Muscular dystrophy, limb-girdle, type 1A.; Myopathy myofibrillar myotylin-related.; Myotilinopathy.; Spheroid body myopathy.; ",
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 4.",
"acronym": "MFM4.",
"accession": "DI-02467",
"synonyms": "Markesbery-Griggs distal myopathy.; ",
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM4 is characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 5.",
"acronym": "MFM5.",
"accession": "DI-01208",
"synonyms": "Autosomal dominant filaminopathy.; MFM filamin C-related.; Myopathy myofibrillar filamin C-related.; ",
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM5 is characterized by onset in adulthood, clinical features of a limb-girdle myopathy, and focal myofibrillar destruction. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 6.",
"acronym": "MFM6.",
"accession": "DI-02541",
"synonyms": "MFM BAG3-related.; Muscular dystrophy Selcen type.; Myopathy myofibrillar BAG3-related.; ",
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 7.",
"acronym": "MFM7.",
"accession": "DI-04834",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower limbs, associated with joint contractures. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 8.",
"acronym": "MFM8.",
"accession": "DI-04890",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM8 is an autosomal recessive form, clinically characterized by slowly progressive symmetrical weakness affecting both proximal and distal muscles, with normal to moderately elevated creatine kinase. Mild facial weakness, a high palate, nasal speech, and swallowing difficulties are typical features, mild restrictive lung disease is common, and late-onset cardiac involvement may be present. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, 9, with early respiratory failure.",
"acronym": "MFM9.",
"accession": "DI-01727",
"synonyms": "Edstrom myopathy.; Hereditary myopathy with early respiratory failure.; HMERF.; MPRM.; Myopathy, distal, with early respiratory failure, autosomal dominant.; Myopathy, proximal, with early respiratory muscle involvement.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.",
"acronym": "MFMFIH-CRYAB.",
"accession": "DI-03083",
"synonyms": "MFM fatal infantile hypertonic alpha-B crystallin-related.; ",
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFMFIH-CRYAB has onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
},
{
"identifier": "Myopathy, sarcoplasmic body.",
"acronym": "MYOSB.",
"accession": "DI-06630",
"synonyms": "Myoglobinopathy.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal dominant, slowly progressive muscle disorder manifesting in adulthood with proximal and axial weakness that progresses to involve distal muscles. Patients may lose ambulation after a long disease course, and some individuals develop respiratory or cardiac symptoms. Muscle pathology features include sarcoplasmic bodies in skeletal and cardiac muscles. ",
"keywords": null
},
{
"identifier": "Myopathy, scapulohumeroperoneal.",
"acronym": "SHPM.",
"accession": "DI-04672",
"synonyms": null,
"cross_references": "MeSH; D009135.",
"definition": "An autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable. ",
"keywords": null
},
{
"identifier": "Myopathy, tubular aggregate, 1.",
"acronym": "TAM1.",
"accession": "DI-03765",
"synonyms": "TAM.; Tubular aggregate myopathy.; ",
"cross_references": "MeSH; D020914.",
"definition": "A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness. ",
"keywords": null
},
{
"identifier": "Myopathy, tubular aggregate, 2.",
"acronym": "TAM2.",
"accession": "DI-04147",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities. ",
"keywords": null
},
{
"identifier": "Myopathy, vacuolar, with CASQ1 aggregates.",
"acronym": "VMCQA.",
"accession": "DI-04342",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "An autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase. The disorder is not progressive, and some patients may be asymptomatic. ",
"keywords": null
}
]
}