Clinical features of Pompe disease with motor neuronopathy
Journal
Neuromuscular Disorders
Journal Volume
29
Journal Issue
11
Pages
903-906
Date Issued
2019
Abstract
Pathological studies on rodent models and patients with Pompe disease have demonstrated the accumulation of glycogen in spinal motor neurons; however, this finding has rarely been evaluated clinically in patients with Pompe disease. In this study, we analyzed seven patients (age, 7–11 years) with Pompe disease who received long-term enzyme replacement therapy. In addition to traditional myopathy-related clinical and electrophysiological features, these patients often developed bilateral foot drop, distal predominant weakness of four limbs, and hypo- or areflexia with preserved sensory function. Electrophysiological studies showed not only reduced amplitudes of compound muscle action potential, but also absent or impersistent F waves and mixed small and large/giant polyphasic motor unit action potentials with normal sensory study. Muscle biopsy usually showed the existence of angular fingers, fiber type grouping or group atrophy. Taken together, these features support the co-existence of motor neuronopathy additionally to myopathy. ? 2019 Elsevier B.V.
SDGs
Other Subjects
enzyme; areflexia; Article; case report; child; clinical article; clinical feature; cohort analysis; disease association; electrophysiology; enzyme replacement; female; glycogen storage disease type 2; histopathology; human; human cell; human tissue; hyporeflexia; limb weakness; male; motor neuropathy; muscle action potential; muscle biopsy; myopathy; peroneus nerve paralysis; priority journal; school child; action potential; electrodiagnosis; glycogen storage disease type 2; motor neuron disease; muscle; pathology; pathophysiology; Action Potentials; Child; Cohort Studies; Electrodiagnosis; Enzyme Replacement Therapy; Female; Glycogen Storage Disease Type II; Humans; Male; Motor Neuron Disease; Muscles
Publisher
Elsevier Ltd
Type
journal article