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Chief Complaint: 55-year-old male presenting with progressive weakness in his left arm and leg, accompanied by occasional muscle fasciculations, over the past three months.
History of Present Illness: Mr. John Doe, a 55-year-old male, reports a three-month history of insidious onset progressive weakness in his left upper and lower extremities. The weakness began subtly in his left hand, making fine motor tasks difficult, and has since spread proximally to his left arm and distally to his left leg. He describes the weakness as constant and worsening, without any specific relieving or aggravating factors. He denies numbness, tingling, pain, or bladder/bowel dysfunction. He has noticed occasional muscle twitching (fasciculations) in his left arm and shoulder. He denies recent trauma, fever, or rash. His symptoms are causing significant difficulty with daily activities, including dressing and walking. He has no significant past neurological history.
Past Medical History:
Hypertension, well-controlled with medication.
Hyperlipidemia.
Type 2 Diabetes Mellitus, well-controlled with diet and metformin.
Medications:
Lisinopril 10 mg daily
Atorvastatin 20 mg daily
Metformin 500 mg twice daily
Allergies: No Known Drug Allergies
Social History: Denies tobacco use. Consumes alcohol socially (1-2 drinks per week). Denies illicit drug use.
Review of Systems: As per HPI. Otherwise negative.
Physical Examination:
Vitals:
- BP: 130/80 mmHg
- HR: 72 bpm
- Temp: 36.8 °C
General Examination: Alert and oriented male, appears to be in no acute distress. Well-nourished and well-groomed. Speech is clear.
Chest Examination: Clear to auscultation bilaterally. No adventitious sounds.
Cardiovascular Examination: Regular rate and rhythm. S1 and S2 present, no murmurs, rubs, or gallops. Peripheral pulses are 2+ and symmetrical.
Abdominal Examination: Soft, non-tender, non-distended. Normoactive bowel sounds. No organomegaly or masses palpated.
Neurological Examination:
- Mental Status: Alert and oriented to person, place, and time. Speech fluent, clear, and without dysarthria. Fund of knowledge appropriate for age and education. Affect appropriate.
- Cranial Nerves: II-XII intact. Pupils equal, round, and reactive to light. Extraocular movements full. Visual fields full to confrontation. Facial sensation and movement symmetrical. Tongue protrudes in midline. Soft palate elevates symmetrically. Fundoscopy revealed sharp optic discs without papilledema.
- Motor:
Right upper extremity: 5/5 strength throughout.
Left upper extremity: Deltoid 4-/5, Biceps 4-/5, Triceps 4/5, Wrist extensors 3+/5, Finger extensors 3/5, Finger abductors 3/5. Significant atrophy noted in left intrinsic hand muscles. Fasciculations observed in left deltoid and biceps.
Right lower extremity: 5/5 strength throughout.
Left lower extremity: Iliopsoas 4/5, Quadriceps 4/5, Hamstrings 4/5, Dorsiflexors 3+/5, Plantarflexors 4-/5. Mild atrophy in left quadriceps.
Tone normal in right extremities, mildly increased tone in left upper and lower extremities, without clonus.
No involuntary movements noted.
- Sensation: Intact to light touch, pinprick, vibration, and proprioception in all four extremities.
- Reflexes:
Biceps: Right 2+, Left 3+
Triceps: Right 2+, Left 3+
Brachioradialis: Right 2+, Left 3+
Patellar: Right 2+, Left 3+
Achilles: Right 2+, Left 3+
Plantar responses: Right flexor, Left extensor (Babinski sign).
- Coordination: Right-sided cerebellar tests intact. Left finger-nose-finger and heel-to-shin movements are dysmetric due to weakness. Romberg negative. Rapid alternating movements decreased on left. Tandem gait impaired due patient's left-sided weakness.
- Gait: Antalgic gait, favoring the left side, with mild left foot drop. Requires a cane for stability.
Assessment:
1. Progressive left-sided weakness and atrophy with fasciculations, hyperreflexia, and extensor plantar response, highly suggestive of Amyotrophic Lateral Sclerosis (ALS) – likely bulbar and spinal onset.
2. Rule out other motor neuron diseases, cervical myelopathy, and neuromuscular junction disorders.
3. Hypertension, well-controlled.
4. Hyperlipidemia, well-controlled.
5. Type 2 Diabetes Mellitus, well-controlled.
Plan:
1. Diagnostics:
Electromyography (EMG) and Nerve Conduction Studies (NCS) of all four limbs, with particular attention to bulbar muscles, to confirm motor neuron involvement and rule out other neuropathies/myopathies.
MRI cervical spine to rule out structural compression (e.g., myelopathy).
Comprehensive blood work: CBC, electrolytes, LFTs, renal function, ESR, CRP, CK, TSH, B12, Lyme serology, autoantibody panel (e.g., anti-GM1, anti-Hu).
2. Referrals:
Refer to ALS specialist clinic for multidisciplinary management.
Physiotherapy and Occupational Therapy for assessment and management of functional limitations.
Speech and Language Therapy for baseline assessment given potential for bulbar involvement.
3. Medications:
Discuss Riluzole and Edaravone as potential disease-modifying therapies once diagnosis is confirmed.
Continue current medications for hypertension, hyperlipidemia, and diabetes.
4. Patient Education: Discuss preliminary findings and the need for further investigations. Provide informational resources regarding ALS. Discuss prognosis and potential supportive care options. Offer genetic counselling if appropriate.
5. Follow-up: Re-evaluate in 2-3 weeks with results of EMG/NCS and MRI.