In this chapter, we examine a severe and clinically prominent group of neuromuscular diseases characterized by the selective degeneration of central and peripheral motor neurons. You will study the mechanisms of development, classification, and diagnostic approaches for pathologies that inexorably lead to paralysis and muscle atrophy.
The section consists of three key blocks: the general concept of motor neuron diseases, amyotrophic lateral sclerosis (ALS) as the most well-known representative of the group, and genetically determined spinal muscular atrophies (SMA). We will analyze in detail how the combination of signs of flaccid and spastic paresis aids in topical diagnosis.
In classes and exams, the differential diagnosis of ALS, needle electromyography (EMG) looking for fasciculations and fibrillations, and the clinical difference between bulbar and pseudobulbar syndromes are tested most rigorously. Read carefully: this knowledge is critically important for making timely diagnoses that fundamentally change patients' lives.