Characteristics of motor polyneuropathy in Fabry disease: a case-control study

In Fabry disease (FD) neuropathic pain is often the first symptom due to impairment of the small fibres of peripheral nerves. The problem of large fibre involvement in FD has not been described well. This prompted us to investigate electrophysiological changes in motor fibres with different conduction velocities in FD patients.The study group consisted of 20 patients with FD (8 women and 12 men); mean age was 40.65 ± 11.94 years, and a matched control group. Medical history, neurological examination, together with standard neurography and conduction velocity distribution (CVD) tests of the ulnar and peroneal nerves, were performed. Different comorbidities were more frequent in men. Statistically significant slowing of motor conduction velocity in both nerves and a significant reduction in the amplitude of the motor response in the peroneal nerve were found in FD patients. Conduction slowing in motor fibres in standard and CVD tests was more pronounced in men and in patients with chronic kidney disease (CKD). Damage to motor fibres occurs in more advanced stages of FD, with greater severity in patients with other comorbidities, mainly CKD. The demyelinating process is important for the development of FD polyneuropathy.