title: Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine.
abstract: Early spinal rigidity is a nonspecific feature reported in diseases such as neuromuscular and central movement disorders. We present a male patient with rigid spine muscular dystrophy caused by newly identified compound heterozygote mutations of the selenoprotein N gene and discuss this disease as a possible differential diagnosis for early-onset reduced spine mobility. Rigid spine muscular dystrophy is a rare myopathy presenting in childhood with a typical combination of stable or slowly progressive mild to moderate muscle weakness, limitation in flexion of the spine, and progressive restrictive ventilatory disorder. The clinical features of our patient include early-onset rigidity of his spine, scoliosis, mild muscular weakness predominantly of neck and trunk flexors, and restrictive ventilatory disorder. Biopsy of the biceps muscle revealed nonspecific myopathic changes, and molecular analysis confirmed the diagnosis of rigid spine muscular dystrophy. Thus, neuromuscular diseases such as muscular dystrophy must be considered in all patients presenting with early spinal rigidity, and genetic determination is a possible way to determine the diagnosis.
authors.affiliation: Department of Pediatric Neurology, Children's Hospital Technical University Dresden, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Sponholz
authors.forename: Maja
authors.initials: M
authors.lastname: von der Hagen
authors.forename: Gabriele
authors.initials: G
authors.lastname: Hahn
authors.forename: Jens
authors.initials: J
authors.lastname: Seifert
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Gisela
authors.initials: G
authors.lastname: Stoltenburg-Didinger
authors.forename: Ana
authors.initials: A
authors.lastname: Ferreiro
authors.forename: Angela M
authors.initials: AM
authors.lastname: Kaindl
mesh_terms: D000328:Adult; D017668:Age of Onset; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009068:Movement / Q000502:physiology*; D009124:Muscle Proteins / Q000235:genetics*; D009127:Muscle Rigidity / Q000235:genetics / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D011859:Radiography; D035583:Rare Diseases; D051140:Selenoproteins / Q000235:genetics*; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*
chemical_list: D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins