Case 21 History ---- The patient was a 67-year-old woman who was diagnosed with amyotrophic lateral sclerosis in 2024 after a 7-month history of progressively worsening asymmetric weakness involving both the upper and lower limbs, both distal and proximal, without sensory deficits. An EMG/NCS showed diffuse ongoing and chronic denervation in 3 body segments along with diffusely small motor response without conduction blocks. Neurofilament light chain (NfL) testing was elevated and a serum paraneoplastic panel was negative. Invitae motor neuron disease panel plus C9orf72 repeat expansion testing was performed, which did not reveal any SOD1 mutation, and the C9orf72 repeat expansion was within the normal range. Over the next two years, the patient developed progressively worsening weakness, hypophonia requiring an augmentative communication device, dysphagia requiring a G tube, restrictive lung disease and respiratory insufficiency treated with PS safety volume (PSSV) therapy on Astral. She continued on a home ventilator, with restrictive lung disease and respiratory insufficiency. Other issues included chronic urinary tract infections (UTIs), supraventricular tachycardia (SVT) on metoprolol, hypertension, hyperlipidemia, hysterectomy, cervical fusion, and right knee surgery with progressive disease on hospice care. The patient developed increased work of breathing with oxygen saturation at 30%. She received multiple doses of morphine with some improvement; however she worsened and passed away in March 2026.
