Document Detail

Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.
MedLine Citation:
PMID:  8030672     Owner:  NLM     Status:  MEDLINE    
We analysed the clinical picture of 101 sibs (43 sib pairs, 5 triplets) with autosomal recessive proximal spinal muscular atrophy (SMA). Linkage data of 20 sibships, which were available for analysis, were in agreement with chromosome 5q linkage. The patients were classified according to the motor development into SMA I (never sat), SMA II (sitting without support), and SMA III (walking without aids). Three sibs with adult onset (> 30 years = SMA IV) were discussed as a separate entity. Age-of-onset of the 101 patients showed a wide spectrum (prenatal to 47 years). Among sib pairs with SMA I and SMA II the ages-of-onset appeared to be very similar except of one atypically discordant sib pair. With regard to SMA III, 3 out of 13 sibships (23%) showed a marked variation in age-of-onset ranging from 5-15 years within a family. Concerning acquired motor development (ability to sit and walk), 7 sibships (15%) belonged to different SMA types. Ages of death in 29 sib pairs in whom at least one sib had died before the age of 20 years were strikingly discordant. Neither the degree of disability nor the respiratory deficits are reliable predictors of life expectancy. Although a predominance of males can be observed, no significant effect of gender has been established in familial cases. The existence of multiple allelism seems to be the most suitable explanation for the high interfamilial variability considering the clinical concordance in most affected sib pairs.
S Rudnik-Schöneborn; D Röhrig; G Morgan; B Wirth; K Zerres
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  51     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1994 May 
Date Detail:
Created Date:  1994-08-08     Completed Date:  1994-08-08     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  70-6     Citation Subset:  IM    
Institute for Human Genetics of Bonn University, Germany.
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MeSH Terms
Age Distribution
Age of Onset
Child, Preschool
Family Health
Genetic Variation
Infant, Newborn
Life Expectancy
Middle Aged
Muscular Atrophy, Spinal / classification*,  genetics*
Sex Factors
Sex Ratio
Spinal Muscular Atrophies of Childhood / genetics

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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