The pediatric disease that most closely resembles amyotrophic lateral sclerosis (ALS) is

Werdnig-Hoffmann disease most closely resembles amyotrophic lateral sclerosis (ALS). Both of these diseases involve the degeneration of motor neurons. Presentation Symptoms symmetric flaccid paralysis most affected infants are hypotonic at bih proximal muscle involvement lower extremity greater than upper extremity sparing of upper cranial nerves e.g., normal eye movements Physical exam absent or decreased deep tendon reflexes tongue and finger fasciculatons infants have flaccid "frog-like" posture restrictive respiratory insufficiency ALS appears to be increasing in incidence. In 5% to 10% of cases, there is an autosomal dominant pattern with strong age-dependent penetrance. Proposed etiologies include oxidative stress, viral infection, immunologic disease, or some unknown environmental factor. Currently, the oxidative stress theory is ored because a defect in the zinc-copper binding superoxide dismutase (5001) coded on chromosome 21 was discovered. Because SO 01 is an antioxidant that conves the superoxide free radical into peroxide and oxygen, reduced activity causes apoptosis (individual cell necrosis) of spinal motor neurons. Inhibition of glutamate transpo potentiates the toxicity associated with the reduced SODllevels. ALS most commonly presents with both upper motor neuron signs (e.g., spastic paralysis) and, eventually, lower motor neuron signs (e.g., muscle atrophy, fasciculations). Atrophy of the intrinsic muscles of the hand and forearms with hand weakness and spastic changes in the lower legs are early signs. Antioxidant cocktails have now been developed, which offer some symptomatic improvement. Werdnig- Hoffmann disease is a progressive muscular atrophy noted in infants. It often presents as the floppy child syndrome. Reference: GHAI Essential pediatrics, 8th edition