In this case study, a 64-year-old male was referred to the Neuromuscular Clinic at Mayo Clinic for concern of motor neuron disease given progressive tremulousness and gait disturbance. A mitochondrial disorder was confirmed, and his muscle Coenzyme Q10 assay was pathologically low. Supplementation of CoQ10 resulted in no improvement to his neurological symptoms or functional impairments, and was referred to the Physical Medicine and Rehabilitation department for spasticity management options.
During PM&R consultations, and multiple tests, patient was referred for permanent implantation of an intrathecal baclofen (ITB) pump. A 40 mL pump was implanted successfully with catheter tip placed to the level of T7. Following the ITB pump placement, he was considered for our outpatient rehabilitation program, but was deferred secondary to progressive improvement in ambulation with gait aides, functional ADLs, and participation in family life via reduction of Upper Motor Neuron (UMN) symptoms via ITB pump.
ITB is an effective means of reducing UMN symptoms. Determination of a successful baclofen trial dose should always be based on thorough clinical evaluation prior to permanent implantation. ITB therapy has also demonstrated potential to improve UMN symptoms in mitochondrial disorders such as CoQ10 deficiency.
See the poster here.