title: Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.
abstract: A novel form of congenital muscular dystrophy in four unrelated patients is proposed. Congenital hypotonia, markedly increased CK, calf pseudohypertrophy and proximal weakness were common early findings. Two cases were severely affected since infancy and never walked. The phenotypical homogeneity was not very evident until advanced stages of the disease. All the patients showed catastrophic progression of the weakness, severe restrictive respiratory insufficiency, macroglossia, peculiar extreme amyotrophy of hands and feet, and a round and 'puffy' face. All patients became tetraplegic and required mechanical ventilation. Two cases had signs of mild cardiac involvement. The only non-tracheotomised patient died of respiratory complications. No mental retardation or specific brain abnormalities were observed. All patients showed secondary deficit of laminin 2 and up-regulation of laminin 5 in muscle. Expression of -dystroglycan was severely reduced in two available muscle samples. The known loci for congenital muscular dystrophies were excluded in the only consanguineous case by linkage analysis. Clinical, immunohistochemical and genetic findings strongly suggest a distinct entity.
authors.affiliation: Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Hôpital Raymond-Poincaré, Garches, France.
authors.forename: Susana
authors.initials: S
authors.lastname: Quijano-Roy
authors.forename: Lucía
authors.initials: L
authors.lastname: Galan
authors.forename: Ana
authors.initials: A
authors.lastname: Ferreiro
authors.forename: Fawzia
authors.initials: F
authors.lastname: Cheliout-Héraut
authors.forename: Françoise
authors.initials: F
authors.lastname: Gray
authors.forename: Michel
authors.initials: M
authors.lastname: Fardeau
authors.forename: Annie
authors.initials: A
authors.lastname: Barois
authors.forename: Pascale
authors.initials: P
authors.lastname: Guicheney
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.forename: Brigitte
authors.initials: B
authors.lastname: Estournet
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D018450:Disease Progression; D005260:Female; D005455:Fluorescent Antibody Technique; D005819:Genetic Markers; D006801:Humans; D006984:Hypertrophy; D007866:Leg; D008260:Macroglossia / Q000209:etiology*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000150:complications* / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D012131:Respiratory Insufficiency / Q000209:etiology*; D012720:Severity of Illness Index
chemical_list: D005819:Genetic Markers