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  1. Hatchet face Myotonic dystrophy的图片

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    Hatchet face Myotonic dystrophy 的图像结果.大小：150 x 112。 资料来源：www.pinterest.co.kr
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    Hatchet face Myotonic dystrophy 的图像结果.大小：150 x 112。 资料来源：es.slideshare.net
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  2. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941986

    Core Clinical Phenotypes in Myotonic Dystrophies - PMC

    • Myotonic Dystrophy

      The classic form also presents with the characteristic “myopathic face” or …

    • Muscular Dystrophy

      In myotonic dystrophy, the face takes on a hatchet-shaped appearance due to …

    仅显示来自 ncbi.nlm.nih.gov 的搜索结果
  3. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/books/NBK557446

    Myotonic Dystrophy - StatPearls - NCBI Bookshelf

    2023年6月26日 · The classic form also presents with the characteristic “myopathic face” or “hatchet face” due to weakness and wasting of the facial, levator palpebrae, and masticatory muscles. As opposed to DM2, hearing loss …

    标记:
    Myotonic dystrophy
    Darrell G. Vydra, Appaji Rayi
    Published:2023/06/26
  5. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/books/NBK560582

    Muscular Dystrophy - StatPearls - NCBI Bookshelf

    2024年2月26日 · In myotonic dystrophy, the face takes on a hatchet-shaped appearance due to facial wasting and weakness, accompanied by bilateral partial ptosis. While bilateral facial palsy is rare, it is crucial to rule out other possible …

    标记:
    Myotonic dystrophy
    Published:2024/02/26
    Muscular dystrophy
  6. ScienceDirect
    https://www.sciencedirect.com/science/article/pii/S0925443914001471

    Myotonic dystrophies: An update on clinical aspects, genetic, …

    标记:
    Dm2 Myotonic Dystrophy
    Myotonic Dystrophy Type 1 Dm1
    Publish Year:2015
  7. Journal of Neurology, Neurosurgery and Psychiatry (JNNP)
    https://jnnp.bmj.com/content/jnnp/81/4/358.full.pdf
    [PDF]

    The myotonic dystrophies: diagnosis and management

    标记:
    Dm2 Myotonic Dystrophy
    Myotonic Dystrophy Type 1 Dm1
    Publish Year:2010
  8. CORE
    https://core.ac.uk/download/pdf/224781309.pdf
    [PDF]

    Core Clinical Phenotypes in Myotonic Dystrophies

  9. 其他用户还问了以下问题
    What is myotonic dystrophy?
    Darrell G. Vydra; Appaji Rayi. Last Update: June 26, 2023. Myotonic dystrophy is a rare progressive disorder that universally presents with weakness. In addition to musculoskeletal weakness, cardiac conduction defects and early cataracts are common. There are two distinct forms of myotonic dystrophy: DM1 and DM2.

    Myotonic Dystrophy - StatPearls - NCBI Bookshelf

    ncbi.nlm.nih.gov
    What is myotonic dystrophy type 1 and Type 2?
    Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2.

    Core Clinical Phenotypes in Myotonic Dystrophies - PMC

    ncbi.nlm.nih.gov
    Are there different types of myotonic dystrophy?
    To date two distinct forms caused by similar mutations have been identified. Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) is caused by a (CCTG)n expansion in ZNF9/CNBP.

    Myotonic dystrophies: An update on clinical aspects, genetic, pathology

    sciencedirect.com
    Does myotonic dystrophy manifest ophthalmic findings with genetic evaluation?
    Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation. Indian J Ophthalmol. 2016 Jul;64(7):535-7. [PMC free article] [PubMed] 99. Skalsky AJ, McDonald CM.

    Muscular Dystrophy - StatPearls - NCBI Bookshelf

    ncbi.nlm.nih.gov
    What is brain involvement in Myotonic Dystrophy Types 1 and 2?
    Brain involvement in myotonic dystrophy types 1 and 2 has been demonstrated in vivo using different neuroimaging techniques. MRI studies revealed white matter lesions and diffuse brain atrophy in myotonic dystrophy types 1 and 2.

    Myotonic dystrophies: An update on clinical aspects, genetic, pathology

    sciencedirect.com
    What gene defect causes myotonic dystrophy?
    The gene defect responsible for myotonic dystrophy described by Steinert was discovered in 1992 and found to be caused an expansion of an unstable CTG trinucleotide repeat in the 3′ untranslated region (UTR) of the myotonic dystrophy protein kinase gene (DMPK; OMIM 605377) which codes for a myosin kinase expressed in skeletal muscle.

    Myotonic dystrophies: An update on clinical aspects, genetic, pathology

    sciencedirect.com
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  10. PubMed
    https://pubmed.ncbi.nlm.nih.gov/22411247

    Myotonic Dystrophy Type 1 or Steinert's disease - PubMed

    标记:
    Dm2 Myotonic Dystrophy
    Myotonic Dystrophy Type 1 Dm1
    Vincenzo Romeo
  11. ScienceDirect
    https://www.sciencedirect.com/science/article/abs/...

    Myotonic dystrophy types 1 and 2 - ScienceDirect

    标记:
    Myotonic dystrophy
    Tetsuo Ashizawa, Partha S. Sarkar
    Publish Year:2011
  12. ScienceDirect
    https://www.sciencedirect.com/science/article/pii/B9780080450315000153

    Myotonic dystrophy types 1 and 2 - ScienceDirect

    标记:
    Myotonic dystrophy
    Tetsuo Ashizawa, Partha S. Sarkar
    Publish Year:2011
  13. Springer
    https://link.springer.com/chapter/10.1007/978-1-4614-0653-2_18

    Myotonic Dystrophy Type 1 or Steinert’s Disease

    标记:
    Myotonic dystrophy
    Vincenzo Romeo
    Publish Year:2012
    Steinert High School