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Familial risks for diseases of myoneural junction and muscle in siblings based on hospitalizations and deaths in sweden

Hemminki, Kari LU ; Li, Xinjun LU and Sundquist, Kristina LU (2006) In Twin Research and Human Genetics 9(4). p.9-573
Abstract

Diseases of the myoneural junction and muscle are disabling and some are life-threatening. Recent successes in the identification of the underlying genetic mechanisms have had profound implication for their diagnostics, treatment and classification. We define familial risks for siblings who were hospitalized for or deceased from diseases of the myoneural junction and muscle. A nationwide database on diseases of the myoneural junction and muscle was constructed by linking the Multigeneration Register on 0- to 69-year-old siblings to the Hospital Discharge Register and the Causes of Death Register from years 1987 to 2001. Standardized risk ratios (SIRs) were calculated for affected sibling pairs by comparing to those whose siblings had no... (More)

Diseases of the myoneural junction and muscle are disabling and some are life-threatening. Recent successes in the identification of the underlying genetic mechanisms have had profound implication for their diagnostics, treatment and classification. We define familial risks for siblings who were hospitalized for or deceased from diseases of the myoneural junction and muscle. A nationwide database on diseases of the myoneural junction and muscle was constructed by linking the Multigeneration Register on 0- to 69-year-old siblings to the Hospital Discharge Register and the Causes of Death Register from years 1987 to 2001. Standardized risk ratios (SIRs) were calculated for affected sibling pairs by comparing to those whose siblings had no diseases of myoneural junction and muscle. Among a total of 2307 patients, myasthenia gravis, muscular dystrophy and myotonic disorders were commonest diagnoses. The sibling risks for these disease were 22, 190 and 198, respectively, when a sibling was diagnosed with any disease of the myoneural junction and muscle. The concordant SIRs, both siblings presenting the same disease, were 42 for myasthenia gravis, 737 for muscular dystrophy, 2000 for congenital myopathy, 1211 for myotonic disorder, 909 for periodic paralysis and 209 for unspecified myopathy. Only a few discordant sibling pairs were noted. The very high overall SIRs for the diseases of the myoneural junction and muscle imply that the sporadic forms of these diseases are relatively rare and these diseases are overwhelmingly heritable.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
Adolescent, Adult, Aged, Child, Child, Preschool, Female, Hospitalization, Humans, Infant, Infant, Newborn, Male, Middle Aged, Muscular Diseases/genetics, Neuromuscular Junction/genetics, Registries, Retrospective Studies, Risk, Siblings, Sweden
in
Twin Research and Human Genetics
volume
9
issue
4
pages
7 pages
publisher
Australian Academic Press
external identifiers
  • scopus:33750116218
ISSN
1832-4274
DOI
10.1375/183242706778025062
language
English
LU publication?
no
id
bf51d9fd-6741-409b-8910-e638a607549e
date added to LUP
2019-01-30 11:12:53
date last changed
2019-02-20 11:45:41
@article{bf51d9fd-6741-409b-8910-e638a607549e,
  abstract     = {<p>Diseases of the myoneural junction and muscle are disabling and some are life-threatening. Recent successes in the identification of the underlying genetic mechanisms have had profound implication for their diagnostics, treatment and classification. We define familial risks for siblings who were hospitalized for or deceased from diseases of the myoneural junction and muscle. A nationwide database on diseases of the myoneural junction and muscle was constructed by linking the Multigeneration Register on 0- to 69-year-old siblings to the Hospital Discharge Register and the Causes of Death Register from years 1987 to 2001. Standardized risk ratios (SIRs) were calculated for affected sibling pairs by comparing to those whose siblings had no diseases of myoneural junction and muscle. Among a total of 2307 patients, myasthenia gravis, muscular dystrophy and myotonic disorders were commonest diagnoses. The sibling risks for these disease were 22, 190 and 198, respectively, when a sibling was diagnosed with any disease of the myoneural junction and muscle. The concordant SIRs, both siblings presenting the same disease, were 42 for myasthenia gravis, 737 for muscular dystrophy, 2000 for congenital myopathy, 1211 for myotonic disorder, 909 for periodic paralysis and 209 for unspecified myopathy. Only a few discordant sibling pairs were noted. The very high overall SIRs for the diseases of the myoneural junction and muscle imply that the sporadic forms of these diseases are relatively rare and these diseases are overwhelmingly heritable.</p>},
  author       = {Hemminki, Kari and Li, Xinjun and Sundquist, Kristina},
  issn         = {1832-4274},
  keyword      = {Adolescent,Adult,Aged,Child,Child, Preschool,Female,Hospitalization,Humans,Infant,Infant, Newborn,Male,Middle Aged,Muscular Diseases/genetics,Neuromuscular Junction/genetics,Registries,Retrospective Studies,Risk,Siblings,Sweden},
  language     = {eng},
  number       = {4},
  pages        = {9--573},
  publisher    = {Australian Academic Press},
  series       = {Twin Research and Human Genetics},
  title        = {Familial risks for diseases of myoneural junction and muscle in siblings based on hospitalizations and deaths in sweden},
  url          = {http://dx.doi.org/10.1375/183242706778025062},
  volume       = {9},
  year         = {2006},
}