Acquired Neuromuscular Diseases

Acquired neuromuscular diseases are diseases that generally describe pathology of the lower motor neurons, including structures such as the muscles, neuromuscular junction (presynaptic or postsynaptic region), peripheral nerve, and anterior horn cell. Many neuromuscular diseases are multisystem disorders affecting numerous organ systems. For example, RNA toxicity generated from trinucleotide repeat sequence expansion in myotonic muscular dystrophy may result in smooth muscle and skeletal muscle, as well as myocardial, endocrine, brain, and ocular abnormalities; whereas Duchenne muscular dystrophy is a disease that may affect cardiac muscle or the conduction system, skeletal muscle, smooth muscle, and the brain.

That being said, it is of vital importance to patients and families that clinicians can recognize these multisystem disorders in any medical specialty. This requires that one be equipped with the knowledge and skills to obtain a focused patient and family history, as well as to perform a comprehensive physical examination to guide diagnostic evaluations, including laboratory studies, genetic testing, and EMG studies.

Synthesizing all of this information will allow you, as the physician, to provide the patient and family with the most accurate diagnosis, prognostic information, appropriate therapeutic recommendations, and anticipatory guidance for what to expect as the disease progresses or treatments take effect.