title: [Nemaline myopathy: an unusual course].
abstract: A girl presents immediately post partum with postures and movements typical for severe muscular hypotonia (floppy infant). Her sucking and swallowing abilities are reduced. There is marked drooling. Broad alveolar ridges give the impression of a high-arched palate. Floppy infant-screening (muscle enzymes, EMG, NCV) was within normal ranges apart from a slight elevation of aldolase. Muscle biopsy performed at the age of two years revealed the diagnosis of nemaline myopathy. An onset of the disease with severe muscular hypotonia during neonatal period usually is linked with rapidly progressing, mostly lethal outcome. Our patient--in contrast--seems to suffer from a mild form.
authors.affiliation: Universitäts-Kinderklinik, Innsbruck.
authors.forename: L C
authors.initials: LC
authors.lastname: Dóczy
authors.forename: M
authors.initials: M
authors.lastname: Morscher
authors.forename: R
authors.initials: R
authors.lastname: Schmitzberger
authors.forename: J
authors.initials: J
authors.lastname: Willeit
authors.forename: H
authors.initials: H
authors.lastname: Haberfellner
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007223:Infant; D007231:Infant, Newborn; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology
vernacular_title: Nemaline-Myopathie: Ein besonderer Verlauf.