title: Diaphragmatic spinal muscular atrophy with bulbar weakness.
abstract: We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life. Electrophysiological and pathological investigations performed at presentation were not conclusive, while the investigations performed at 3 months showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy.
authors.affiliation: Department of Paediatrics and Neonatal Medicine and Dubowitz Neuromuscular Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK. emercuri@ic.ac.uk
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: F
authors.initials: F
authors.lastname: Goodwin
authors.forename: C
authors.initials: C
authors.lastname: Sewry
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D010244:Bulbar Palsy, Progressive / Q000175:diagnosis / Q000209:etiology*; D003937:Diagnosis, Differential; D004576:Electromyography / Q000379:methods; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000175:diagnosis; D012120:Respiration Disorders / Q000209:etiology / Q000628:therapy; D012121:Respiration, Artificial; D012133:Respiratory Paralysis / Q000150:complications* / Q000175:diagnosis