Case 5 History ---- This 67 year old patient developed trouble speaking and comprehension. Shortly thereafter, she also began having difficulty swallowing. A neurologist thought she might have had a stroke, but the MRI was negative and another physician was concerned for motor neuron disease and referred her to Washington University. Her initial examination ~5 months after symptom onset showed distractibility, slowed response to commands, and mildly impaired recall. She had spastic dysarthria and brisk reflexes but no frank limb weakness. An EMG/NCS showed diffuse early denervation and was confirmatory of motor neuron disease. Because of her cognitive issues, she was diagnosed with bulbar-onset ALS with early FTLD. Because her mother had also suffered from ALS (with a 7 year disease course with onset at age 50 years), she was considered to have familial ALS. Genetic testing demonstrated a hexanucleotide repeat expansion in the C9orf72 gene. By 6 months after symptom onset, other areas were more clearly affected, including the tongue (showing atrophy), the proximal right arm and lower left leg (weakness), and respiratory muscles (FVC of 64% of predicted for age and size). By 7 months, she had experienced sufficient decline in swallowing that she was choking and was losing weight from inability to eat. Her leg weakness began leading to frequent falls and she’d lost considerable coordination in her hands. Her husband noted increasing difficulties with motor planning and decision making, such that she was no longer able to follow recipes and cook. He also noted pseudobulbar symptoms like excessive crying at inappropriate moments, and excessive laughter more rarely. Her cognitive exam had deteriorated. Facial weakness was more evident, and the entire right arm and left leg were demonstrably weaker. Atrophy was now clearly evident in weak areas and signs of upper motor neuron involvement were more prominent. She was started on riluzole and Nuedexta (a combination drug containing the active ingredients dextromethorphan and quinidine) for her pseudobulbar affect. By 9 months, she required a feeding tube to maintain nutrition. One month later, due to continuing decline (loss of ambulation and weakness starting in the left arm) the decision was made to seek hospice care. By one year, the patient was bed bound and completely dependent for all activities of daily living. She had lost the ability to communicate (verbally or by indicating wants) and alternated between being unarousable or staring off into space and moaning continuously for unclear reasons. Although she was treated for potential pain, it was never clear what this behavior indicated. She persisted in this bedbound, incommunicative state for an additional 9-10 months, with increasingly long bouts of being unarousable. Finally, she died of respiratory causes.
