CLINICAL PRESENTATION Amyolrophic faleral sclerosis-Commonest presentation, usual presenting aymptom is difficulty in walking or dragging

suggesting an autosomal dominant trait, 20% of such families have mutations of the Cu, Zn superoxide dismutase (SOD 1) gene on chromosome 21. CLINICAL PRESENTATION Amyolrophic faleral sclerosis-Commonest presentation, usual presenting aymptom is difficulty in walking or dragging of one leg la) Lower motor neurone signs Atrophy, weakness and tasciculation - most prominent in upper limbs id) Upper motor neurone signs Hyper-rellexia and spasllcity - especially in lower limbs Extensor planiars (c) No abnormality of sensailon. Progressive muscular atrophy - Most benign variety of motor neurone disease (a) Airophy. weakness and fascculations Onsei usually with wasting of one hand (first dorsal inierosseous muscle) Tendons Become prominent as hand muscles waste, giving guttered appearance (Skeleton hand) Eventually wasting spreade to all four limbs and trunk. id) Loss of tendon reflexes Progressive buibar paralyse - (a) Dyspriagia followed by dysarihria (b) Nasal regurgitatlon of fluids and nasal slurred vote, (c) Tongua wasted and folded and fasciculallons visible (d) Absent jaw jerk and gag reflex Pseudobulbar palsy - Deganeratlon of cortlcobulbar pathways of V, VII. IX. XI and XII cranial nerve nuclei Weakness of muscles of mastication and dlfficulty in chawing Expressionless lace Exaggerated jaw ark Brisk gag rallex Palatal weakness allowing food and fluid to enter nasopharynx. Monotonous speech