The Muscular Dystrophies

Abstract

The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset. Recent advances in the field include improved methods of diagnosis, continued identification of disease genes, and the development of a unified model of pathogenesis in facioscapulohumeral dystrophy. These advances are reflected in the development of new therapeutic approaches, some of which have already led to clinical trials in the dystrophinopathies and limb-girdle dystrophies.

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

“…LGMD1 often presents with progressive proximal muscle weakness of the upper and lower extremities; however several forms may present with primarily distal weakness, and clinical heterogeneity may exist even within the same family [1]. To date, mutations in five causative genes have been associated with LGMD1, including the MYOT gene encoding myotilin in LGMD1A [2], the LMNA gene encoding lamin A/C in LGMD1B [3], the CAV3 gene which encodes caveolin in LGMD1C [4].…”

The relevance of trunk evaluation in Duchenne muscular dystrophy: the segmental assessment of trunk control

“…Duchenne muscular dystrophy (DMD) is characterised by muscle strength loss that initially affects the muscles of the pelvic girdle and lower limbs, progressing to trunk muscles and the muscles responsible for maintaining a standing posture 1 . Trunk muscle imbalance occurs in this population as muscle weakness progresses; this can be directly responsible for postural abnormalities, e.g.…”

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands

“…Corticosteroids are the only proven efficacious drug for ameliorating DMD phenotype. Among DMD patients, responders and low responders are, however, well described [17]. Considering the known side effects of corticosteroid therapy, identifying poorly responsive patients is a key point.…”