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Scapulohumeral muscular dystrophy

MedGen UID:
98373
•Concept ID:
C0410192
•
Disease or Syndrome
Synonym: Muscular Dystrophy, Scapulohumeral
SNOMED CT: Scapulohumeral muscular dystrophy (240074006)
 
HPO: HP:0008970
Monarch Initiative: MONDO:0010884
OMIM®: 600416

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVScapulohumeral muscular dystrophy

Conditions with this feature

Myopathy with storage of glycoproteins and Glycosaminoglycans
MedGen UID:
371846
•Concept ID:
C1834532
•
Disease or Syndrome
See: Condition Record
Facioscapulohumeral muscular dystrophy 2
MedGen UID:
320405
•Concept ID:
C1834671
•
Disease or Syndrome
Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened.
See: Condition Record
Facioscapulohumeral muscular dystrophy 1
MedGen UID:
1727901
•Concept ID:
C5399970
•
Disease or Syndrome
Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened.
See: Condition Record
Facioscapulohumeral muscular dystrophy 1
Facioscapulohumeral muscular dystrophy 2
Myopathy with storage of glycoproteins and Glycosaminoglycans

Professional guidelines

PubMed

Differential diagnosis of limb girdle syndromes.
Ishpekova B, Milanov I
Electromyogr Clin Neurophysiol 1996 Dec;36(8):469-75. PMID: 8985674
Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.
Lunt PW, Jardine PE, Koch M, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M
Muscle Nerve Suppl 1995;(2):S103-9. PMID: 23573595
Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.
Lunt PW, Jardine PE, Koch M, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M
Muscle Nerve Suppl 1995;2:S103-9. PMID: 7739619

Recent clinical studies

Diagnosis

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.
Kondo T, Bobek MP, Kuick R, Lamb B, Zhu X, Narayan A, Bourc'his D, Viegas-Péquignot E, Ehrlich M, Hanash SM
Hum Mol Genet 2000 Mar 1;9(4):597-604. doi: 10.1093/hmg/9.4.597. PMID: 10699183

Clinical prediction guides

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.
Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, Cerqueira AM, Starling A, Deufel T, Zatz M
Eur J Hum Genet 2007 Dec;15(12):1276-9. Epub 2007 Sep 26 doi: 10.1038/sj.ejhg.5201924. PMID: 17895902
Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.
Kondo T, Bobek MP, Kuick R, Lamb B, Zhu X, Narayan A, Bourc'his D, Viegas-Péquignot E, Ehrlich M, Hanash SM
Hum Mol Genet 2000 Mar 1;9(4):597-604. doi: 10.1093/hmg/9.4.597. PMID: 10699183

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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