[Solved]: Chief Complaint: Increased muscle weakness,…

Chief Complaint: Increased muscle weakness, difficulty breathing, and worsening swallowing difficulties over the past two months. Past Medical History: A 32-year-old female, Maria, presents to the clinic with progressive muscle weakness, difficulty swallowing, and frequent respiratory infections over the past year. She reports occasional muscle cramps and has noticed twitching (fasciculations) in her arms and legs. Her mother passed away at age 50 due to complications from a neuromuscular disorder. Genetic testing reveals a mutation in the SOD1 gene, known to be associated with familial Amyotrophic Lateral Sclerosis (ALS). History of Present Illness: Maria was previously diagnosed with familial ALS due to a SOD1 mutation. Over the past two months, her symptoms have worsened. She reports severe muscle weakness, particularly in her arms and legs, making it difficult to stand from a seated position. She now requires assistance for daily tasks. New Complaints Difficulty swallowing liquids, leading to choking episodes. Increased shortness of breath, especially at night. Frequent aspiration episodes, leading to a recent case of pneumonia. Persistent muscle cramps and fasciculations. Weakness in her neck muscles, causing her head to droop forward. Social History: Lives with her sister, who is now assisting with most of her care. Medications: Riluzole Neuromuscular: Pronounced muscle wasting in the upper and lower extremities. Severe weakness (3/5 strength) in both arms and legs. Fasciculations noted in the biceps, quadriceps, and tongue. Spasticity in lower limbs. Respiratory: Weak diaphragm function, shallow breathing. Reduced chest expansion on deep inspiration. Crackles heard in right lower lung (possible aspiration pneumonia). Cranial Nerves: Dysarthria (slurred speech). Absent gag reflex, difficulty clearing secretions. Weak tongue movements, unable to protrude tongue fully. Assessment (A) • Primary Diagnosis: Progressive ALS with respiratory compromise and bulbar dysfunction. Complications Noted: 1. Aspiration pneumonia – due to worsening swallowing dysfunction. 2. Diaphragmatic weakness – risk of respiratory failure. 3. Severe muscle atrophy and functional decline – impacting independence and quality of life. Plan (P) 1. Respiratory Support: • Non-invasive ventilation (BiPAP) at night to improve oxygenation. • Consider pulmonary function tests (PFTs) to assess respiratory decline. 2. Nutritional Support: • Refer for PEG tube placement (feeding tube) due to severe dysphagia. • High-calorie nutritional supplements with dietary on board • Labs should be noted 3. ALS Symptom Management: • Increase Baclofen for muscle spasticity/10 mg tid • Consider Nuedexta for bulbar symptoms (speech/swallowing difficulty). • Speech therapy for swallow evaluation. 4. Palliative Care Consultation: • Discuss advance care planning, including ventilator support options. • Provide psychosocial support for the patient and family. • Advanced Directives