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Anal sphincter myopathy, internal

MedGen UID:
349633
Concept ID:
C1862935
Disease or Syndrome
Synonyms: PROCTALGIA FUGAX DUE TO ANAL SPHINCTER MYOPATHY
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 105565

Clinical features

Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.
Abnormality of the anus
MedGen UID:
870868
Concept ID:
C4025329
Anatomical Abnormality
Abnormality of the anal canal.

Recent clinical studies

Etiology

Jeyarajah S, Purkayastha S
CMAJ 2013 Mar 19;185(5):417. Epub 2012 Nov 26 doi: 10.1503/cmaj.101613. PMID: 23184844Free PMC Article

Diagnosis

Panagiotopoulou IG, Miller R, Powar MP, Chan JYH, Davies RJ
J Med Case Rep 2018 Oct 24;12(1):315. doi: 10.1186/s13256-018-1856-z. PMID: 30352617Free PMC Article
Bharucha AE, Lee TH
Mayo Clin Proc 2016 Oct;91(10):1471-1486. doi: 10.1016/j.mayocp.2016.08.011. PMID: 27712641Free PMC Article
Jeyarajah S, Purkayastha S
CMAJ 2013 Mar 19;185(5):417. Epub 2012 Nov 26 doi: 10.1503/cmaj.101613. PMID: 23184844Free PMC Article
Friedmacher F, Puri P
Pediatr Surg Int 2012 Aug;28(8):765-71. doi: 10.1007/s00383-012-3123-5. PMID: 22806601

Therapy

Jeyarajah S, Purkayastha S
CMAJ 2013 Mar 19;185(5):417. Epub 2012 Nov 26 doi: 10.1503/cmaj.101613. PMID: 23184844Free PMC Article
Friedmacher F, Puri P
Pediatr Surg Int 2012 Aug;28(8):765-71. doi: 10.1007/s00383-012-3123-5. PMID: 22806601

Prognosis

Jeyarajah S, Purkayastha S
CMAJ 2013 Mar 19;185(5):417. Epub 2012 Nov 26 doi: 10.1503/cmaj.101613. PMID: 23184844Free PMC Article

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