Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure. This phenotype may be associated with several muscular diseases. In cases...

Full description

Saved in:
Bibliographic Details
Published in:Neuromuscular disorders : NMD 1999-10, Vol.9 (6), p.376-382
Main Authors: Moghadaszadeh, Behzad, Topaloglu, Haluk, Merlini, Luciano, Muntoni, Francesco, Estournet, Brigitte, Sewry, Caroline, Naom, Isam, Barois, Annie, Fardeau, Michel, Tomé, Fernando M.S., Guicheney, Pascale
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Biopsy
Child
Chromosome 1p
Chromosome Mapping
Chromosomes, Human, Pair 1
Congenital muscular dystrophy
Consanguinity
DNA - blood
DNA - genetics
Female
Genetic heterogeneity
Homozygosity mapping
Homozygote
Humans
Male
Muscle Rigidity - genetics
Muscle Rigidity - pathology
Muscular Dystrophies - complications
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
Nuclear Family
Pedigree
Rigid spine syndrome
Scoliosis - complications
Scoliosis - genetics
Spinal Diseases - genetics
Spinal Diseases - pathology
Syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure. This phenotype may be associated with several muscular diseases. In cases of merosin-positive congenital muscular dystrophies (CMD) with rigid spine syndrome, we have recently identified a new locus ( RSMD1) on chromosome 1p35-36. In the present study, we report the clinical, morphological and genetic analysis of other patients affected by a CMD with rigid spine syndrome from nine consanguineous families. Homozygosity mapping showed that the disease was linked to RSMD1 in one of the nine families. The other families were excluded from RSMD1, and the patients presented highly variable phenotypes suggesting the involvement of more than one gene defect in rigid spine syndrome. Nevertheless, a subgroup of patients who never walked, and had very early rigidity of the spine and scoliosis, may be considered for further genetic analysis.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(99)00051-6