The term neuromuscular disease encompasses conditions impacting the neuromuscular system, including the motor neurons, other spinal cord regions, the peripheral nerves, to the neuromuscular junction and the muscle. These diseases are rare, often hereditary, progressive in nature and without treatment. Some of these can be of autoimmune origin and treatable. The onset of symptoms ranges from childhood to adulthood and may vary from mild to more severe sensory and/or motor impairment, sometimes cardiac or respiratory involvement requiring life support and/or resulting in fatality. In contrast to the low frequency, neuromuscular diseases have a great impact on the quality of life of the patients, underlining the importance of a rapid diagnosis to guide the patient towards the most appropriate therapies.