Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis

Ron Dabby; Menachem Sadeh; David Hilton-Jones; Paul Plotz; Peter Hackman; Anna Vihola; Bjarne Udd; Esther Leshinsky-Silver

doi:10.1016/j.jns.2015.03.001

Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis

J Neurol Sci. 2015 Apr 15;351(1-2):120-123. doi: 10.1016/j.jns.2015.03.001. Epub 2015 Mar 6.

Authors

Ron Dabby¹, Menachem Sadeh², David Hilton-Jones³, Paul Plotz⁴, Peter Hackman⁵, Anna Vihola⁵, Bjarne Udd⁶, Esther Leshinsky-Silver⁷

Affiliations

¹ Department of Neurology, Edith Wolfson Medical Center, Holon, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: ronda@post.tau.ac.il.
² Department of Neurology, Edith Wolfson Medical Center, Holon, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
³ Radcliffe Infirmary, Woodstock Road, Oxford, United Kingdom.
⁴ National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, USA.
⁵ Folkhalsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
⁶ Folkhalsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Neurology, Vasa Central Hospital, Vasa, Finland.
⁷ Department of Molecular Genetic Laboratory, Edith Wolfson Medical Center, Holon, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

PMID: 25772186
DOI: 10.1016/j.jns.2015.03.001

Abstract

Rarely, inflammation can be present in genetic myopathies, such as dysferlinopathies, facioscapulohumeral muscular dystrophy and GNE-myopathy (hereditary inclusion body myopathy). This may lead to erroneous initial diagnosis and unnecessary therapy which bear serious side effects. We report on an unusual case of mutations in the TTN gene presenting with inflammatory infiltrates in the muscle biopsy. Only after intensive immune-modulating therapies failed, a genetic myopathy was considered. Exome sequencing and search for mutated muscle protein-encoding genes disclosed compound heterozygous mutations in TTN: K26320T and A6135G. The parents carry one each of the mutations. Titinopathy could be considered also in patients presenting with inflammatory infiltrates resistant to therapy.

Keywords: Inflammatory myopathy; LGMD2J; Muscular dystrophy; Titin.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Age of Onset
Connectin / genetics*
Humans
Male
Muscular Dystrophies, Limb-Girdle / diagnosis*
Muscular Dystrophies, Limb-Girdle / genetics*
Myositis / diagnosis

Substances

Connectin
TTN protein, human

Supplementary concepts

Muscular Dystrophy, Limb-Girdle, Type 2J