The muscular dystrophy research community is at a watershed moment. Our understanding of the molecular, cellular, and physiological underpin­ nings of the muscular dystrophies continues to increase and has revealed several therapeutic tar­ gets. For the first time, investigational therapies are reaching the final stages of review by United States regulatory agencies. Yet, as we learn more about...

Classification Various types of muscular dystrophy are recognised on the basis of different clinical patterns and different modes of inheritance. The pathological changes in the muscle are similar in character in the different types, but may vary considerably in severity. The various myotonic syndromes are usually also included under the broad definition of muscular dystrophies, but differ from...

functions may be limited to the more slowly progressive muscular dystrophies. Troise et al. have provided an important basis for consideration of proprioceptive feedback in the assessment and potential treatment of manual dexterity in DMD. Further exploration of the underpinnings of both sensory and perceptual control of movement across muscular dystrophies is warranted, especially considering ...

Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways. Therefore, its damage may lead to different metabolic disruptions. Two of the most important metabolic alterations in muscular dystrophies may be insulin resistance and obesity. How...

limb girdle muscular dystrophies (lgmds) are group of neuromuscular disorders which are characterized by progressive muscle weakness and they mostly affect the pelvic and shoulder girdle muscles. this disease can be inherited as autosomal dominant (lgmd1) and autosomal recessive (lgmd2). so far seven autosomal dominant and 20 autosomal recessive forms of this disease have been recognized reflec...

Pulmonary complications including chest infections, atelectasis, pulmonary hypoplasia and ventilatory failure are the leading cause of death in the muscular dystrophies and atrophies. Ventilatory insufficiency is virtually inevitable in Duchenne muscular dystrophy and type 1 spinal muscular atrophy (SMA), but more variable in limb-girdle, congenital, and facioscapulohumeral muscular dystrophy. ...

editorial Diagnosis of limb-girdle muscular dystrophies in the molecular biology era: do clinical findings still matter? Diagnóstico das distrofias musculares de cinturas na era da biologia molecular: os dados clínicos ainda tem importância? L imb-girdle muscular dystrophies have always been a challenge to diagnose because of the similarity of their clinical presentations. Until 1981, different...

Muscular dystrophies comprise a heterogeneous cluster of inherited muscle degenera‐ tive disorders with the common feature of progressive muscle weakness. These represent good candidates for treatment with gene-based therapies. Progress in gene transfer technologies has raised hopes for successful therapeutic restoration of mutated genes such as dystrophin in Duchenne muscular dystrophy. Delive...

Abstract Muscular dystrophies are devastating and untreatable genetic diseases leading to progressive muscle degeneration weakness. The expanding landscape of CRISPR-Cas-based genome editing tools allows the in situ repair many disease-causing mutations patient cells an unprecedented manner. Here, I discuss recent advances challenges for using gene edited stem autologous cell replacement therap...