UNDIAGNOSED RELAPSING NEUROMUSCULAR / NEUROLOGICAL DISORDER – SEEKING ADDITIONAL OPINIONS

Patient

• Female
• Age 45
• United Kingdom

Overview

The patient developed a slowly progressive neurological illness approximately three years ago. Despite extensive investigation, no definitive diagnosis has been established.

The illness initially began with mouth and tongue symptoms and later progressed to involve facial muscles, eye muscles, and generalized body weakness.

Following hospitalization, she experienced gradual but incomplete recovery over approximately three years. Over the last 6–8 weeks she has experienced a significant relapse and has deteriorated close to her original level of disability.

Timeline

Months Before Hospitalization

• Tongue pain associated with chewing and eating solid foods.
• Abnormal sensations in the tongue and mouth (burning, tingling, numbness).
• Progressive difficulty eating.
• Progressive facial weakness.
• Bilateral facial palsy.
• Ptosis (worse on the left).
• Diplopia, worsening with fatigue.

Hospitalization

• Rapid deterioration in generalized strength.
• Weakness affecting arms, legs, neck, and trunk.
• Reduced or absent reflexes.
• Development of balance difficulties.
• Severe fatigue and increased sleep requirement.

At her worst, she remained ambulatory but walking was very difficult and required significant effort.

Recovery Phase

Over approximately three years:
• Gradual but incomplete recovery.
• Improvement in facial weakness, although not complete.
• Improved functional ability.

Relapse (Past 6–8 Weeks)

• Progressive week-by-week decline.
• Severe fatigability.
• Difficulty raising arms.
• Difficulty maintaining head posture throughout the day.
• Increased weakness in arms, legs, neck, and trunk.
• Increased need for rest and sleep.
• Functional decline approaching original post-hospital level.

Current Symptoms

Cranial/Bulbar

• Bilateral facial weakness.
• Inability to smile normally.
• Incomplete eye closure, worse on the left.
• Ptosis, worse on the left.
• Diplopia, worse later in the day and with fatigue.
• Tongue weakness.
• Difficulty eating solid foods.
• Tongue pain during chewing.

Generalized

• Severe generalized weakness.
• Exercise intolerance.
• Difficulty climbing stairs.
• Difficulty raising arms above shoulder level.
• Difficulty holding head upright throughout the day.
• Marked fatigue.

Investigations

Reported as normal:
• Multiple MRI scans.
• Lumbar puncture.
• Chest CT.
• Extensive blood testing.
• Two nerve conduction studies.
• Repetitive nerve stimulation testing.

Reflexes

• Reduced or absent during the original hospitalization.

Myasthenia Gravis Evaluation

• AChR antibodies negative.
• MuSK antibodies negative.
• LRP4 antibodies negative.
• Pyridostigmine ineffective.
• Steroids ineffective.

Family History

• No known neurological disorders.
• No known muscle disorders.
• No known autoimmune diseases.

Questions for Reviewing Specialists

• What diagnoses remain plausible despite normal MRI, lumbar puncture, and nerve conduction studies?
• Would single-fiber EMG be useful if not previously performed?
• Would further genetic testing be appropriate?
• Are there rare autoimmune neuromuscular disorders that fit this presentation?
• Does the combination of oral/tongue onset, bilateral facial palsy, ptosis, diplopia, reduced reflexes, partial recovery, and later relapse suggest a specific syndrome?