Stephen Hawking was diagnosed with Amyotrophic Lateral Sclerosis (ALS), a Motor Neuron Disease. But it never stopped him from becoming the greatest physicist of his time!

This is a progressive disease of unknown origin in which there is degeneration of motor neurons of the spinal cord and cranial nerve nuclei and of pyramidal neurons in the motor cortex.


πŸ‘‰ 95% of the cases – Viral infection, trauma, exposure to toxins and electric shock. (Though no Strong evidence exists)

πŸ‘‰ 5% of the cases – Familial showing autosomal dominant inheritance. Defect lies in Chromosome 21 on the enzyme SOD1 (Superoxide dismutase)


πŸ‘©β€βš•οΈ Usually affects people above 50 years of age. Very uncommon before 30.

πŸ‘¨β€βš•οΈ Male predominance.

πŸ‘©β€βš•οΈ Dysarthria and Dysphagia.

πŸ‘¨β€βš•οΈ Wasting and fasciculation of muscles.

πŸ‘©β€βš•οΈ Weakness of tongue, face, palate and limb muscles.

πŸ‘¨β€βš•οΈ Spasticity, extensor plantar reflexes and excessive tendon reflexes are seen in case of pyramidal tract involvement.

πŸ‘©β€βš•οΈ External ocular muscles and sphincters usually remain intact.

πŸ‘¨β€βš•οΈ No sensory deficit objectively seen.

πŸ‘©β€βš•οΈ Intellectual impairment is not seen in most cases.


🧐 Differential diagnosis: diabetic amyotrophy, multifocal neuron disease, spinal disorders should be excluded.

🧐 Electromyography – helps confirm fasciculation and denervation.

🧐 Spinal imaging and brain scanning – to exclude focal spinal or cerebral disease.

🧐 A slightly elevated protein concentration is seen in the CSF examination sometimes.


πŸ’Š Riluzole 100 Mg per day appears to be modestly effective in prolonging the life of the patient.

πŸ’Š Helps the Quality of life of patients: Psychological and physical support, speech therapist, physiotherapist.

πŸ’Š Mechanical aids: Splints, wheelchairs, walking aids, communication devices.


⚠️ Motor Neuron Disease is progressive; the mean time from diagnosis to death is 1 year.

⚠️ Most patients die within 3-5 years after the onset of symptoms.

⚠️ Death is usually from respiratory infection and failure, and the complications of immobility.

SOURCE: Davidson’s Principles and Practice of Medicine (19th edition)


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