title: Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
abstract: 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.
authors.affiliation: INSERM U 523, Institut de myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Moghadaszadeh
authors.forename: H
authors.initials: H
authors.lastname: Topaloglu
authors.forename: L
authors.initials: L
authors.lastname: Merlini
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: B
authors.initials: B
authors.lastname: Estournet
authors.forename: C
authors.initials: C
authors.lastname: Sewry
authors.forename: I
authors.initials: I
authors.lastname: Naom
authors.forename: A
authors.initials: A
authors.lastname: Barois
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: P
authors.initials: P
authors.lastname: Guicheney
mesh_terms: D000328:Adult; D017668:Age of Onset; D001706:Biopsy; D002648:Child; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003241:Consanguinity; D004247:DNA / Q000097:blood / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009127:Muscle Rigidity / Q000235:genetics* / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009679:Nuclear Family; D010375:Pedigree; D012600:Scoliosis / Q000150:complications / Q000235:genetics*; D013122:Spinal Diseases / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
chemical_list: D004247:DNA