title: Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.
abstract: Spinal muscular atrophy with respiratory distress (SMARD 1) is a very rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic palsy, symmetrical distal muscular weakness, muscle atrophy, peripheral sensory neuropathy and autonomic nerve dysfunction. SMARD 1 is inherited as an autosomal recessive trait and the mutations have been identified in the gene encoding immunoglobulin μ-binding protein 2 (IGHMBP2), located on chromosome 11q13. It is considered a fatal form of infantile motoneuron disease and most of the patients dies within the first 13 months of life. We present a female child with genetically confirmed SMARD 1 displaying a mild phenotype and no severe signs of respiratory involvement, typically found in this form, up to 38 months despite a diaphragmatic palsy diagnosed at 6 months of age. Therefore, our clinical observation suggests that respiratory failure is not secondary, in any case, to the diaphragmatic palsy but other pathogenetic mechanisms might be involved.
authors.affiliation: Department of Pediatrics, University of Messina, Messina, Italy. francesca.messina@unime.it
authors.forename: Maria F
authors.initials: MF
authors.lastname: Messina
authors.forename: Sonia
authors.initials: S
authors.lastname: Messina
authors.forename: Michele
authors.initials: M
authors.lastname: Gaeta
authors.forename: Carmelo
authors.initials: C
authors.lastname: Rodolico
authors.forename: Anna M
authors.initials: AM
authors.lastname: Salpietro Damiano
authors.forename: Fortunato
authors.initials: F
authors.lastname: Lombardo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Crisafulli
authors.forename: Filippo
authors.initials: F
authors.lastname: De Luca
mesh_terms: D002657:Child Development / Q000502:physiology; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D010641:Phenotype; D011859:Radiography; D012131:Respiratory Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics*; D012133:Respiratory Paralysis / Q000000981:diagnostic imaging / Q000235:genetics*; D014897:Spinal Muscular Atrophies of Childhood / Q000000981:diagnostic imaging / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors