Deformities of the spine in hereditary motor-sensory neuropathy (HMSN) belong among muscular deformities that are most likely related to neurogenic impairment of paravertebral muscles. In a group of 81 patients with molecular-genetically verified cause of the disease, we followed the occurrence and character of spinal deformities. In the case of clinical suspicion for a spinal deformity, an X-ray examination of the spine was performed. Deformity of the spine was found in 22 patients (27%). We differentiated scoliosis and kyphoscoliosis of thoracic and lumbar spine with dominant scoliosis (14 patients – 17%) and kyphoscoliosis with dominant thoracic hyperkyphosis (8 patients – 10 %). In two patients, the spinal deformity manifested prior to impairment of lower extremities, whereas in 20 patients, the scoliosis developed later than deformities and pareses of the feet. Our study indicates that in HMSN, a high prevalence of spinal deformities can be expected. They should be specifically sought and in the case of clinical suspicion, should be further verified with an X-ray exam and early rehabilitation should be initiated. Rehabilitation of patients with HMSN should then include special techniques of therapeutic exercise targeting the spinal area.

        Key words: hereditary motor-sensory neuropathy, spinal deformity, kyphoscoliosis, scoliosis, hyperkyphosis