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Spinal muscular atrophy (SMA) is a genetic disease affecting the lower motor neurons. Lower motor neurons are the anterior horn motor neurons and their axons that extend through the ventral nerve root and the peripheral nerves to reach the neuromuscular junction. Weakness and wasting of the skeletal muscles is caused by progressive degeneration of the anterior horn cells of the spinal cord. This is due to an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. Lower extremities are most often affected. There are different types of SMA, which can be classified according to the age of onset and severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include flaccid limbs and trunk, weak movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Children with Type II may able to sit and some may be able to stand or walk with help. Type III (also called Kugelberg-Welander disease) starts to show between 2 and 17 years of age and include difficulty running, climbing steps, or getting up from a chair.
ANDREA--- kyk asb net of een van die ander groeplede nie klaar n klassifikasie in hul deel het nie (die deel wat ek gehighlite het) en as hul s’n meer detailed is, haal myne uit asb.. BAIE DANKIE VIR JOU MOEITE!!