Genetic neuromuscular disease

Genetic neuromuscular disease.

The clinical practice of neuromuscular disease is currently undergoing enormous change as a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of gene discoveries in the area of neurological disease relate to neuromuscular disorders. The immediate impact of these discoveries is that a precise DNA based diagnosis is possible. This often gives patients accur...

diagnostic problems of neuromuscular disease in genetic consultation

more often patients refer for genetic counseling, without definite diagnosis. mostly people and some doctor! have the impression the all muscular dystrophy affected by boys but is carried by girles. more often review of medical history of theses patients resolved this finding different clinical (neurologists), physiotherapist (ncv,emg) and pathologists diagnosis and also negative result molecul...

overview of neuromuscular disease

neuromuscular disorders encompass a broad spectrum of disorders from the anterior horn cell to the muscle tissue itself. the given condition can be either genetic or acquired. these group of disorders are diagnostically challenging as many of them also pose other systemic findings. one example would the commonly seen mental retardation in duchenne muscular dystrophy. from the practical point of...

rehabilitation in neuromuscular disease

neuromuscular diseases are abnormal processes involving cns (central nervous system), pns (peripheral nervous system), nmj (neuromuscular junction), muscle or any combination of these. our goals in neuromuscular disease are maintenance of function, quality of life, educate patient and family, anticipate needs, expect change and prevent or delay complications. limb contractures and scoliosis, we...

Neuromuscular Disease.