The Histopathologic Examination of a Second Muscle Biopsy Specimen at a Later Date may Sometimes be the Best Approach to Make a Differential Diagnosis in Neuromuscular Disorders.

Abstract

Neuromuscular disorders still keep their mystery (1). Considering that cases with very mild symptoms cannot be diagnosed at all, it is almost impossible to know the true prevalence of these diseases (2). Relatively little information about the exact prevalence of neuromuscular disorders (NMDs) has been published (1-4). It has been reported that NMDs affect approximately one in 3500 children worldwide and X-linked dystrophinopathies have the highest incidence among them (4). Knowledge of NMDs has expanded dramatically during the last four decades thanks to advances in modern pathological techniques and genetic tests. Currently, the dystrophinopathies and most cases of limb-girdle dystrophies (LGMDs) can be diagnosed with immunohistochemical analysis of muscle tissues (4-7). It must be kept in mind that diagnoses may be suggested by the histopathological evaluation, but definitive diagnosis mostly relies on genetic analyses (5-7).