Walking Ability in Patients with Diastrophic Dysplasia: A Clinical, Electroneurophysiological, Treadmill, and MRI Analysis

Abstract

Patients with diastrophic dysplasia have walking difficulties of obscure etiology; some are even wheelchair-bound. To explore the problem, physical examination, treadmill, magnetic resonance imaging (MRI), and electroneurophysiologic studies were performed on 87 patients (56 females, 31 males) with an average age of 31 (range 3–56) years. Mobility of the spine, hips, knees, and feet was diminished. Some of the patients were obese (mean body mass index 27.0 kg/m2). In the treadmill study, patients were able to walk an average of 638 m (range 0–1,618 m). On MRI, five patients showed compression of neural structures; one of them also had clinical symptoms. Somatosensory evoked potentials and electroneuromyography revealed evidence of compression of neural structure in three (3%) and two (3%) patients, respectively. The walking difficulties seem to have a multifactorial etiology: flexion contractures of the knees, early and rapid osteoarthrosis, equinus or equinovarus foot deformities, and obesity, but only rarely spinal stenosis.