ALS and SMA Quiz

Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA) Overview

• SOD gene mutations may lead to misfolded proteins, causing poor anti-oxidation and mitochondrial dysfunction
• ALS can affect both lower and upper motor neurons, leading to varied impairments such as muscle weakness, hypertonia, and hyporeflexia
• Patients with ALS may experience musculoskeletal pain, muscle cramps, and non-motor symptoms like cognitive impairment and emotional lability
• ALS can present with bulbar system onset (cranial nerve dysfunction) or limb onset (weakness in the limbs)
• Conditions that may be considered for differential diagnosis or share similarities with ALS include frontal temporal dementia, spinal muscular atrophy, and peripheral neuropathies
• SMA is a rare hereditary neuromuscular disorder characterized by the loss of motor neurons, leading to muscle wasting and weakness
• SMA is the most common genetic cause of death in infants, impacting every race and gender equally
• The survival motor neuron 1 gene (SMN1) on chromosome 5q produces the survival motor neuron protein, which maintains the health and normal function of motor neurons
• SMA is inherited as an autosomal recessive disease, requiring two mutated genes for manifestation
• There are different types of SMA, varying in severity and age of onset, such as acute SMA (Type 1), intermediate SMA (Type 2), mild SMA (Type 3), and later onset SMA (Type 4)
• SMA is associated with progressive weakness of voluntary muscles, respiratory impairments, and other associated problems like difficulties swallowing and joint contractures
• SMA primarily affects trunk, leg, and arm muscles more than hands and feet, and is characterized by degeneration of anterior horn cells and muscle weakness.