Facioscapulohumeral muscular dystrophy, myotonic muscular dystrophy and oculopharyngeal muscular dystrophy are dominantly inherited disorders, all of which have an unusual molecular defect involving nucleotide repeats. Clinically, facial weakness is a…
Joint contractures are a common complication of several neuromuscular disorders, but in some they are an early feature and specific joints are commonly affected. In particular, disorders known as Emery–Dreifuss…
History and Background The term ‘congenital muscular dystrophy’ (CMD) has been widely used to describe a group of infants with weakness and hypotonia from birth or within the first few…
History and Background Heterogeneity in the muscular dystrophies has long been recognized ( ). The wide application of molecular techniques and increasing use of next-generation sequencing have identified a growing…
Background Although the advent of molecular genetics has transformed the diagnostic confirmation of Duchenne and Becker muscular dystrophy, we thought it worth retaining some historical background and clinical description of…
There are many inherited and acquired clinical disorders caused by a defect in upper or lower motor neurone or the peripheral nerve. These include amyotrophic lateral sclerosis (ALS; upper and…
Skeletal muscle undergoes many changes in response to disease and trauma. With the electron microscope, the abnormalities seen at the light level can be characterized and accurately localized, and the…
Immunohistochemistry Immunohistochemistry has an essential role in the evaluation of muscle biopsies and in examining protein localization. The term ‘protein expression’ is often applied to describe immunohistochemical results, but it…
When the pathologist is asked to evaluate a muscle biopsy, much of the interpretation is based on his or her previous experience and the recognition of similarities between the biopsy…
The first section of this book covered techniques and general aspects of interpretation of pathological changes. We now turn our attention to specific disorders and the variable role muscle biopsy…
