1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-12-69-a 10.15844/pedneurbriefs-12-9-6 Neuromuscular Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Hereditary Inclusion Body Myopathy http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 09 1998 01 04 2016 12 9 69 69 Copyright: © 1998 The Author(s) 1998 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles

A new familial, autosomal dominant, myopathy and variant of hereditary inclusion body myopathy (HIBM) is described in 19 members of a large Swedish family followed in the Departments of Pediatrics, Genetics, and Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.

 Hereditary Inclusion Body Myopathy External Ophthalmoplegia Myopathic Changes

A new familial, autosomal dominant, myopathy and variant of hereditary inclusion body myopathy (HIBM) is described in 19 members of a large Swedish family followed in the Departments of Pediatrics, Genetics, and Pathology, Sahlgrenska University Hospital, Goteborg, Sweden. Onset was in the newborn period with congenital joint contractures in 14, hip dislocation in 4, limb-girdle weakness and muscular atrophy, external ophthalmoplegia, and decreased tendon reflexes. The course was nonprogressive in childhood, and joint contractures resolved. From 30 to 50 years of age, most patients showed deterioration, with progressive muscle weakness and atrophy, especially of quadriceps. EMG showed myopathic changes, and serum CK was elevated. Muscle biopsy showed focal disorganization of myofilaments in childhood cases, and dystrophic changes in adults, with rimmed vacuoles and cytoplasmic and intranuclear inclusions. [1]

COMMENT. Inclusion body myopathies are sporadic and inflammatory or familial and hereditary. The above Swedish family appears to suffer from a unique form of autosomal dominant HIBM that presents at birth and shows a progressive deterioration in adult life.

Darin N Kyllerman M Wahlström J Martinsson T Oldfors A Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles Ann Neurol 1998 Aug 44 2 242 8 10.1002/ana.410440215 9708547