Clinical and Functional Assessment of Patients With Inherited Non-Duchenne Myopathies in Sohag University Hospital

Muscular Myopathies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing \[1\]. Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD is caused by mutations in the dystrophin gene that placed in the middle of short arm of X chromosome \[2\]. Mutation in this gene lead to absence of dystrophin or structural defects of this protein. The lack of functional dystrophin impairs the structure and function of myofibers which are essential for physiological growth of muscle tissue \[3\]. The non-dystrophic myopathies are a group of inherited myopathies defined by distinctive static histochemical and/or characteristic ultrastructural changes on muscle. The nomenclature of dystrophic myopathies can be confusing as some of them are classified by age of onset of symptoms (e.g., congenital muscular dystrophies), whereas others are classified by distribution of weakness (e.g., limb-girdle muscular dystrophies, distal myopathies, facioscapulohumeral dystrophy, and oculopharyngeal muscular dystrophy), by characteristic clinical features (e.g., myotonic dystrophy), by the name of the causativ…

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