Initial Consultation

Specialty: Neurologist Initial Consultation Chief Complaint: 55-year-old female presenting with progressive weakness in her right arm and leg, intermittent fasciculations, and difficulty with fine motor tasks for the past 6 months. Symptoms started gradually and have been worsening, impacting her ability to perform daily activities. History of Presenting Illness: Patient reports onset of insidious weakness in her right hand approximately 6 months ago, initially presenting as difficulty with buttoning clothes and writing. Over the past 3 months, the weakness has spread to her right arm and, more recently, her right leg, leading to occasional tripping. She experiences spontaneous muscle twitching (fasciculations) in her right upper and lower limbs. She denies numbness, tingling, or pain. She reports some subjective difficulty with swallowing larger food items and occasional choking episodes when drinking thin liquids. No changes in vision, speech (apart from mild dysarthria noted by her husband), or bowel/bladder function. No recent falls or head trauma. No prior similar episodes. Past Medical and Neurological History: Hypertension diagnosed 5 years ago, well-controlled with medication. Hyperlipidemia managed with statin. No history of stroke, seizures, multiple sclerosis, or other neurological disorders. No prior hospitalisations. Last routine physical examination 1 year ago was unremarkable. Medications and Allergies: Lisinopril 10mg once daily, Atorvastatin 20mg once daily. Patient reports good adherence to both medications. Denies use of over-the-counter drugs regularly. No known drug allergies. No known food allergies. Family and Social History: Father passed away at 72 from a myocardial infarction; mother alive at 80 with osteoporosis. No known family history of neurological conditions, including motor neuron disease or dementia. Patient is married, lives with her husband. Works as a retired school teacher. Denies alcohol use. Occasional social tobacco use (2-3 cigarettes per week) for 10 years, quit 5 years ago. No known occupational exposures. Functional status is declining due to limb weakness, requiring assistance with some household tasks and having difficulty walking long distances. Review of Systems: Constitutional: No fever, chills, or unexplained weight loss. Occasional fatigue. Cognitive: No memory loss or significant cognitive decline reported. Motor: Progressive weakness in right upper and lower limbs, fasciculations. Sensory: No numbness, tingling, or sensory loss reported. Coordination: Mild clumsiness noted with fine motor tasks. Speech: Mild dysarthria (slurring of words) occasionally noted by husband. Vision: No diplopia, blurry vision, or visual field deficits. Autonomic: No significant changes in bowel or bladder function. No orthostatic hypotension. Physical Examination: General: Alert and oriented, well-nourished female. Vital signs: BP 130/80 mmHg, HR 72 bpm, RR 16 bpm, Temp 36.8°C. Mental Status: Normal mood and affect. Speech with mild dysarthria. Intact orientation, attention, language, and memory on brief bedside testing. Cranial Nerves: Pupils equal, round, and reactive to light. EOMs intact. Facial sensation intact. Facial symmetry preserved. Palatal elevation symmetrical. Tongue fasciculations noted, mild atrophy of tongue. Gag reflex intact. SCM and trapezius strength 5/5 bilaterally. Motor: Right upper extremity: shoulder abduction 4/5, elbow flexion 4/5, wrist extension 3/5, grip strength 3/5. Right lower extremity: hip flexion 4/5, knee extension 4/5, ankle dorsiflexion 3/5. Left upper and lower extremities 5/5 throughout. Diffuse fasciculations noted in right deltoid, biceps, and quadriceps muscles. Mild atrophy of right hand intrinsic muscles. Tone: Normal tone in left limbs. Mild spasticity in right upper and lower limbs. Reflexes: Deep tendon reflexes 3+ and brisk in right upper and lower limbs with crossed adductor reflex. 2+ and symmetrical in left upper and lower limbs. Bilateral Babinski sign present. Coordination: Right finger-to-nose and heel-to-shin testing poorly performed due to weakness. Left-sided coordination intact. Sensation: Intact to light touch, pinprick, vibration, and proprioception in all four limbs. Gait: Spastic gait with right foot drop, requiring a wide base of support. Walks with cane. Unable to tandem walk. Investigations Reviewed: No recent imaging or bloodwork available for review at this time. Patient reports a normal EMG/NCS performed 2 years ago for unrelated carpal tunnel syndrome symptoms. Impression: 55-year-old female presenting with a 6-month history of progressive, asymmetric limb weakness, fasciculations, dysarthria, and brisk reflexes with positive Babinski signs, consistent with both upper and lower motor neuron signs. The clinical picture is highly suggestive of Amyotrophic Lateral Sclerosis (ALS). Other differential diagnoses include multifocal motor neuropathy (less likely given UMN signs), cervical myelopathy (less likely given bulbar involvement and widespread fasciculations), and inflammatory myopathy (less likely given predominant weakness without pain/rash and presence of UMN signs). Further investigations are warranted to confirm the diagnosis and rule out mimics. Plan: 1. Urgent referral for comprehensive electrophysiological studies (EMG/NCS) of all four limbs, bulbar, and paraspinal muscles. 2. Brain and spinal cord MRI to rule out structural lesions. 3. Comprehensive bloodwork including CK, ESR, ANA, B12, copper, ceruloplasmin, and thyroid function tests. 4. Discuss Riluzole and Edaravone with patient once diagnosis is confirmed. 5. Referrals to speech and language therapy for dysphagia assessment and management, physical therapy for gait and strength training, and occupational therapy for adaptive equipment. 6. Follow-up appointment scheduled in 2 weeks to discuss investigation results and further management. 7. Provide patient with educational materials on ALS and connect with local support groups. Date: 1 November 2024