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Motor Neurone Disease — RACP Adult Medicine MCQ

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ModerateNeurologyMotor Neurone DiseaseRACP Adult Medicine

A 55-year-old man presents with progressive difficulty walking over 2 years. Examination shows spastic paraparesis with brisk reflexes and extensor plantars, plus wasting of the small muscles of the hands. Fasciculations are present in the upper limbs. Cognition is intact. What is the most likely diagnosis?

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Correct answer: E — Motor neurone disease (ALS)

Combined upper motor neurone signs (spasticity, brisk reflexes, extensor plantars) with lower motor neurone signs (wasting, fasciculations) in multiple regions without sensory loss is the hallmark of amyotrophic lateral sclerosis (ALS/MND). The El Escorial criteria require UMN and LMN signs in multiple body regions with progressive spread. EMG confirms widespread denervation. Riluzole modestly extends survival.

Reference: eTG – 2025 – Neurology; NICE – 2024 – MND Guidelines