| 词条 | Desmin-related myofibrillar myopathy |
| 释义 |
| name = Desmin-related myofibrillar myopathy | synonyms = | image = | alt = | caption = | pronounce = | field = rheumatology | geneReviewsID = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein filaments, instead forming aggregates of desmin and other proteins throughout the cell.[1][2] PresentationCommon symptoms of the disease are weakness and atrophy in the distal muscles of the lower limbs which progresses to the hands and arms, then to the trunk, neck and face. Respiratory impairment often follows. GeneticsThere are three major types of inheritance for this disease: Autosomal dominant, autosomal recessive and de novo.
PathophysiologyThe sarcomeres become misaligned and result in the disorganization of muscle fibers.[1] This mutation also results in muscle cell death by apoptosis and necrosis.[1] The muscle cell may also be disorganized because the aggregates may interrupt other filament structures and/or normal cellular function.[3] Desminopathies are very rare diseases and {{as of|2004}} only 60 patients have been diagnosed, however this number probably does not accurately represent the population due to frequent mis or under diagnosis.[3] DiagnosisDesminopathies are diagnosed by genetic analysis. Because mutations in several further genes might be pathogenic for skeletal and cardiac myopathies, gene panels or whole exome sequence analysis are mostly used. Sanger sequencing is consequently used to verify NGS-data. TreatmentThere is currently no cure for the disease but treatments to help the symptoms are available.[3] PrognosisPrognosis strongly depends on which subtype of disease it is. Some are deadly in infancy but most are late onset and mostly manageable.[4][5] References1. ^1 2 {{cite journal |vauthors=Bär H, Strelkov SV, Sjöberg G, Aebi U, Herrmann H | title = The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation? | journal = J. Struct. Biol. | volume = 148 | issue = 2 | pages = 137–52 |date=November 2004 | pmid = 15477095 | doi = 10.1016/j.jsb.2004.04.003 | url = | issn = }} 2. ^{{cite journal |vauthors=Brodehl A, Hedde PN, Dieding M, Fatima A, Walhorn V, Gayda S, Šarić T, Klauke B, Gummert J, Anselmetti D, Heilemann M, Nienhaus GU, Milting H | date = May 2012 | title = Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants | url = | journal = J Biol Chem | volume = 287 | issue = 19| pages = 16047–57 | doi = 10.1074/jbc.M111.313841 | pmid = 22403400 | pmc=3346104}} 3. ^1 2 3 4 5 6 {{cite journal |vauthors=Goldfarb LG, Vicart P, Goebel HH, Dalakas MC | title = Desmin myopathy | journal = Brain | volume = 127 | issue = Pt 4 | pages = 723–34 |date=April 2004 | pmid = 14724127 | doi = 10.1093/brain/awh033 | url = | issn = }} 4. ^{{Cite journal|last=Selcen|first=Duygu|last2=Ohno|first2=Kinji|last3=Engel|first3=Andrew G.|date=2004-02-01|title=Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients|url=http://brain.oxfordjournals.org/content/127/2/439|journal=Brain|language=en|volume=127|issue=2|pages=439–451|doi=10.1093/brain/awh052|issn=0006-8950|pmid=14711882}} 5. ^{{Cite web|url=https://www.ncbi.nlm.nih.gov/books/NBK1499/|title=Myofibrillar Myopathy|last=Selcen|first=Duygu|date=October 29, 2012|website=GeneReviews|publisher=National Institute of Heath, United States|access-date=}} External links{{Medical resources| DiseasesDB = | ICD10 = | ICD9 = | ICDO = | OMIM = 601419 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | GeneReviewsName = }}{{Cytoskeletal defects}} 1 : Genetic diseases and disorders |
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