Gait rehabilitation in a patient affected with Charcot-Marie-Tooth disease associated with pyramidal and cerebellar features and blindness.
Charcot-Marie-Tooth (CMT) disease, an inherited neuropathy characterized by length-dependent degeneration of the motor and sensory nerve fibers with consequent distal muscle atrophy and sensory reduction, can be associated with symptoms and signs of involvement of the central nervous system and/or cranial nerves. We present a patient with relatively severe CMT, cerebellar ataxia, pyramidal involvement, and blindness due to Leber's hereditary optic neuropathy. The patient presented with poor standing and gait, with consequent severe disability. Factors responsible for the patient's functional impairment (plantarflexor failure, footdrop, foot rotation, knee flexor contracture, poor proprioception, cerebellar dysfunction, spastic paraparesis, blindness) were identified and addressed by a rehabilitation management, which included, as a main intervention, ankle stabilization by drop-foot boots instead of ankle-foot orthoses. Improved balance and independent ambulation resulted from rehabilitation.
Department of Rehabilitation of Charcot-Marie-Tooth Disease and Other Neuromuscular Disorders, Specialized Rehabilitation Hospital L. Spolverini, Ariccia, Rome, Italy. paolovinci@libero.it
Paolo
P
Vinci
D000203:Activities of Daily Living; D000328:Adult; D001766:Blindness / Q000150:complications / Q000503:physiopathology / Q000534:rehabilitation*; D001915:Braces; D002524:Cerebellar Ataxia / Q000150:complications / Q000503:physiopathology / Q000534:rehabilitation*; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000503:physiopathology / Q000534:rehabilitation*; D006233:Persons with Disabilities; D005684:Gait; D020233:Gait Disorders, Neurologic / Q000150:complications / Q000503:physiopathology / Q000534:rehabilitation*; D006801:Humans; D008297:Male; D020380:Needs Assessment; D009460:Neurologic Examination; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications / Q000503:physiopathology / Q000534:rehabilitation*; D010347:Patient Care Planning; D016059:Range of Motion, Articular; D012775:Shoes