U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Episodic muscle weakness, X-linked(EMWX)

MedGen UID:
337525
•Concept ID:
C1846173
•
Disease or Syndrome
Synonym: EMWX
 
Monarch Initiative: MONDO:0010267
OMIM®: 300211

Clinical features

From HPO
Muscle weakness
MedGen UID:
57735
•Concept ID:
C0151786
•
Finding
Reduced strength of muscles.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.
Carboni N, Mura M, Mercuri E, Marrosu G, Manzi RC, Cocco E, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Marini S, Lai C, Politano L, Marrosu MG
Neuromuscul Disord 2012 Feb;22(2):152-8. Epub 2011 Oct 10 doi: 10.1016/j.nmd.2011.09.001. PMID: 21993399
Primary periodic paralyses.
Finsterer J
Acta Neurol Scand 2008 Mar;117(3):145-58. Epub 2007 Nov 20 doi: 10.1111/j.1600-0404.2007.00963.x. PMID: 18031562

Diagnosis

An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd.
Li H, Xue Y, Yu J, Guo S, Liu C
Neuromuscul Disord 2020 Jul;30(7):562-565. Epub 2020 Jun 12 doi: 10.1016/j.nmd.2020.06.006. PMID: 32660786
The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults.
Al-Mateen M, Craig AK, Chance PF
J Child Neurol 2014 Mar;29(3):342-8. Epub 2013 Feb 11 doi: 10.1177/0883073812474343. PMID: 23400245
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.
Carboni N, Mura M, Mercuri E, Marrosu G, Manzi RC, Cocco E, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Marini S, Lai C, Politano L, Marrosu MG
Neuromuscul Disord 2012 Feb;22(2):152-8. Epub 2011 Oct 10 doi: 10.1016/j.nmd.2011.09.001. PMID: 21993399
Primary periodic paralyses.
Finsterer J
Acta Neurol Scand 2008 Mar;117(3):145-58. Epub 2007 Nov 20 doi: 10.1111/j.1600-0404.2007.00963.x. PMID: 18031562
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.
Canki-Klain N, Récan D, Milicić D, Llense S, Leturcq F, Deburgrave N, Kaplan JC, Debevec M, Zurak N
Croat Med J 2000 Dec;41(4):389-95. PMID: 11063761

Therapy

Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.
Croci C, Cataldi M, Baratto S, Bruno C, Trucco F, Doccini S, Romano A, Nesti C, Santorelli FM, Fiorillo C
Neuropediatrics 2023 Jun;54(3):211-216. Epub 2023 Jan 24 doi: 10.1055/a-2018-4845. PMID: 36693417

Prognosis

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
Novelli V, Bisignani A, Pelargonio G, Primiano G, Narducci ML, Palmieri V, Tiziano FD, Zeppilli P, Servidei S, Crea F, Genuardi M
BMC Cardiovasc Disord 2020 Apr 5;20(1):156. doi: 10.1186/s12872-020-01421-4. PMID: 32248794Free PMC Article
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.
Carboni N, Mura M, Mercuri E, Marrosu G, Manzi RC, Cocco E, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Marini S, Lai C, Politano L, Marrosu MG
Neuromuscul Disord 2012 Feb;22(2):152-8. Epub 2011 Oct 10 doi: 10.1016/j.nmd.2011.09.001. PMID: 21993399
Persistent CNS dysfunction in a boy with CMT1X.
Siskind C, Feely SM, Bernes S, Shy ME, Garbern JY
J Neurol Sci 2009 Apr 15;279(1-2):109-13. Epub 2009 Feb 3 doi: 10.1016/j.jns.2008.12.031. PMID: 19193385
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Récan D, Shatunov A, Sewry CA, Brown SC
Brain 2006 May;129(Pt 5):1260-8. Epub 2006 Apr 3 doi: 10.1093/brain/awl062. PMID: 16585054
Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report).
Carvalho AA, Levy JA, Gutierrez PS, Marie SK, Sosa EA, Scanavaca M
Arq Neuropsiquiatr 2000 Dec;58(4):1123-7. doi: 10.1590/s0004-282x2000000600023. PMID: 11105084

Clinical prediction guides

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
Novelli V, Bisignani A, Pelargonio G, Primiano G, Narducci ML, Palmieri V, Tiziano FD, Zeppilli P, Servidei S, Crea F, Genuardi M
BMC Cardiovasc Disord 2020 Apr 5;20(1):156. doi: 10.1186/s12872-020-01421-4. PMID: 32248794Free PMC Article
Persistent CNS dysfunction in a boy with CMT1X.
Siskind C, Feely SM, Bernes S, Shy ME, Garbern JY
J Neurol Sci 2009 Apr 15;279(1-2):109-13. Epub 2009 Feb 3 doi: 10.1016/j.jns.2008.12.031. PMID: 19193385
A novel syndrome of episodic muscle weakness maps to xp22.3.
Ryan MM, Taylor P, Donald JA, Ouvrier RA, Morgan G, Danta G, Buckley MF, North KN
Am J Hum Genet 1999 Oct;65(4):1104-13. doi: 10.1086/302588. PMID: 10486330Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...