Background. Charcot-Marie-Tooth (CMT) disease is one of the most common hereditary peripheral neuropathies. The main clinical signs of CMT are progressive muscular weakness and loss of sensation in the distal parts of limbs, and its clinical classification depends on whether the main pathological process is axonal or demyelinating. CMT2A is the most common form of axonal peripheral neuropathies due to pathogenic variants of the MFN2 gene. MFN2 encodes a dynamin-like GTPase protein mitofusin-2 and plays a major role in mitochondrial functions.
Material and methods. This paper describes a rare clinical case of a patient who has been diagnosed with hereditary motor and sensory neuropathy at the age of 12, after analysing clinical and electrophysiological examination data. At the onset of the disease, foot instability, pes cavus and paintul involuntary muscle contractions occurred. The patient, at the age of 25, arrived for CMT etiology tests complaining about weakness in arms and legs, diminished distal parts of the arm, muscle stiffness after exercise, and a significantly changed gait. The duplication of the CMT1A genome domain comprising the PMP22 gene was not identified. GJB1 and MPZ gene mutations were also not detected. After 4 years, the patient came in again due to worsening gait and limb pain. Electroneurographic examination revealed a decreased amplitudes of the action potentials and normal nerve conduction velocities, these changes are characteristic to axonal polyneuropathies. A heterozygous pathogenic mutation NM_014874.3:c.281G>A (NP_055689.1:p.Arg94Gln) was detected in the MFN2 gene.
Conclusions. Only a thorough clinical, electrophysiological and genetic testing allowed the identification of hereditary neuropathy molecular cause and the risk of recurrence in the patient’s children.
