Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. [ Orphanet:98909 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0080092 (MONDO:equivalentTo)
  • UMLS:C1832370 (Orphanet:98909)
  • OMIM:601419 (Orphanet:98909)
  • ICD10:G71.8 (Orphanet:98909)
  • Orphanet:98909 (OMIM:601419)
Subsets

ordo_disease

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

exactMatch

http://purl.obolibrary.org/obo/DOID_0080092

https://omim.org/entry/601419

http://www.orpha.net/ORDO/Orphanet_98909

http://linkedlifedata.com/resource/umls/id/C1832370

has exact synonym

DES myofibrillar myopathy (disease)

myofibrillar myopathy type 1

myofibrillar myopathy (disease) caused by mutation in DES

myopathy, myofibrillar, type 1

desminopathy

myofibrillar myopathy 1

desmin-related myofibrillar myopathy

has related synonym

arrhythmogenic right ventricular dysplasia, familial, 7, formerly

desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy

cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D

desmin-related myopathy

desminopathy, primary

arrhythmogenic right ventricular cardiomyopathy 7, formerly

CMD1F and LGMD1D, formerly

inclusion body myopathy 1, autosomal dominant

myopathy, myofibrillar, desmin-related

myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy

cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly

arrhythmogenic right ventricular dysplasia, familial, 7

inclusion body myopathy 1, autosomal dominant, formerly

arrhythmogenic right ventricular cardiomyopathy 7

myopathy, myofibrillar, 1

CMD1F and LGMD1D

cardiomyopathy, dilated, with conduction defect and muscular dystrophy

MFM1

IBM1

id

MONDO:0011076