title: Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene.
abstract: Mutations in A-type nuclear lamins are known to cause a variety of diseases, which can affect almost all organs of the human body including striated muscle. For lamin-related congenital muscular dystrophy two different phenotypes are known to date. Here, we describe a 3-year-old, white Caucasian girl with a novel de novo mutation in the LMNA gene with marked hypotonia of neck and trunk muscles with dropped head posture, loss of cervical lordosis and marked joint laxity. In addition to this novel mutation, the patient also had cerebral white matter lesions on MRI and cognitive impairment on developmental testing. This is only the second A-type lamin-related congenital muscular dystrophy patient in which white matter lesions are described. Thus, white matter involvement might be a feature in A-type lamin-related congenital muscular dystrophy, warranting screening of these patients for both white matter lesions and cognitive impairment.
authors.affiliation: Division of Neuropaediatrics, University Children's Hospital Basel, Switzerland; Department of Neurology, University Hospital Basel, Switzerland. Electronic address: ulrike.bonati@ukbb.ch.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Bonati
authors.affiliation: Division of Neuropaediatrics, University Children's Hospital Basel, Switzerland.
authors.forename: Nina
authors.initials: N
authors.lastname: Bechtel
authors.affiliation: Division of Medical Genetics, University Hospital Basel, Switzerland.
authors.forename: Karl
authors.initials: K
authors.lastname: Heinimann
authors.affiliation: Paediatric Orthopaedic Department, University Children's Hospital Basel, Switzerland.
authors.forename: Erich
authors.initials: E
authors.lastname: Rutz
authors.affiliation: Division of Neuroradiology, University Children's Hospital Basel, Switzerland.
authors.forename: Jacques
authors.initials: J
authors.lastname: Schneider
authors.affiliation: Institute of Pathology, Department of Neuropathology, Basel University Hospital, Switzerland.
authors.forename: Stephan
authors.initials: S
authors.lastname: Frank
authors.affiliation: Division of Neuropaediatrics, University Children's Hospital Basel, Switzerland.
authors.forename: Peter
authors.initials: P
authors.lastname: Weber
authors.affiliation: Division of Neuropaediatrics, University Children's Hospital Basel, Switzerland; Department of Neurology, University Hospital Basel, Switzerland.
authors.forename: Dirk
authors.initials: D
authors.lastname: Fischer
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003072:Cognition Disorders / Q000150:complications / Q000235:genetics*; D005260:Female; D006257:Head; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D009123:Muscle Hypotonia / Q000150:complications / Q000235:genetics*; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010641:Phenotype
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A
keywords: Congenital muscular dystrophy; Dropped head phenotype; L-CMD; LMNA gene mutation; White matter lesions