Dr SP is a 56-year-old neurologist specializing in the care of patients with amyotrophic lateral sclerosis (ALS). His medical and family history are unremarkable. He is married and has 2 adult children. Four years ago, he noticed a right foot drop and experienced mild difficulty walking. In September, he developed some urinary and fecal urgency and weakness in his other foot. The results of extensive laboratory investigations were unremarkable except for a disk herniation at the thoracic level 6 to 7 with indentation of the cord. The patient underwent a decompression of his thoracic spine and subsequently had 2 additional operations for persistent herniated disk at the same thoracic level. About 1 year later, his right arm became weak. An electromyographic study showed denervation in the right leg muscles and chronic reinnervation changes in multiple myotomes in the right upper and lower extremity. Neurologic examination showed muscle atrophy in both legs and increased muscle tone in all extremities with generalized pathological hyperreflexia. He walked with spastic gait. The results of sensory examination were completely normal. His forced vital capacity was 4.97 L or 109% predicted with a maximum inspiratory pressure of 60 mm H2O or more. He was diagnosed as having ALS and self-referred to an ALS multidisciplinary clinic at a university medical center for further management.
He was treated with riluzole, celecoxib (then in use in a clinical trial), and several medications for urinary urgency and spasticity. Extensive recommendations were made by the ALS treatment team to maintain his function at home and at work, including proactive suggestions for respiratory, nutritional, and communication issues.
Soon thereafter, his speech became difficult. His course was complicated by deep venous thrombosis, and he started taking oral warfarin. About 1 year ago, he lost the ability to talk; he began to use an alphabet board with a laser pointer attached to his eyeglasses to communicate. He used glycopyrrolate to help dry saliva but developed constipation. He lives at home with his family and hired help for the home. Night-time oxygen desaturation prompted initiation of a noninvasive ventilator. Additional medications included omeprazole, lactulose, loratadine, bupropion, and budesonide nasal spray. He also took 1200 mg of coenzyme Q10 four times a day, vitamin E, and α-lipoic acid. His condition has continued to deteriorate with more generalized muscle weakness and spasticity. A year ago, his forced vital capacity was 1.88 L or 42% predicted with a maximum inspiratory pressure of 60 mm or higher. Subsequently, he had become completely paralyzed but has been relatively stable in the past year. He can still use his eyes to communicate using an alphabet board and has done so recently in a public speech.
Dr SP was interviewed by a Perspectives editor along with his wife and son. Using a laser pointer attached to his eyeglasses, Dr SP pointed to letters ...