ADULT MUSCULAR DYSTROPHIES: CLINICAL, LABORATORY, AND GENETIC FEATURES

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Abstract

BACKGROUND- Adults are affected by many forms of muscular dystrophy. New genetic classifications are changing traditional diagnostic categories. This review focuses on a spectrum of muscular dystrophies seen in adults and their recognition.

REVIEW SUMMARY- Muscular dystrophies are traditionally classified by inheritance patterns, distribution of muscle weakness, and clinical course. Advances in genetics and molecular biology are improving our understanding of disease mechanisms and creating new diagnostic categories of limb-girdle muscular dystrophies. We are finding that phenotypic expression is heterogeneous, despite homogeneous genotypes. Many muscular dystrophies may not be recognized until late adulthood, or only after a tragic event, such as sudden death or fetal loss. Laboratory investigation helps to differentiate the muscular dystrophies, but molecular biology is proving invaluable for confirming clinical suspicions. There are still relatively few effective treatments.

CONCLUSION- Neurologists need to remain knowledgeable about the new classifications in muscular dystrophies, the diversity of muscular dystrophy in adults, and how to plan an efficient evaluation. We will continue to see genetics provide hope for the better understanding and treatment of muscular dystrophy.

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