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1112 Montana Avenue, #372
Santa Monica, CA 90403
The Claire Altman Heine Foundation, Inc. is a voluntary, non-profit organization dedicated to identifying carriers of spinal muscular atrophy (SMA), supporting population-based screening for the mutated gene that causes SMA, raising awareness of SMA and educating the public and medical communities about SMA. SMA is a motor neuron disease characterized by the progressive degeneration of nerve cells in the spinal cord and brainstem, leading to muscle weakness, muscle atrophy, and respiratory complications. Among genetic diseases, it is a leading cause of death among children under age two. Spinal muscular atrophy is inherited as an autosomal recessive trait. Molecular genetic testing has revealed that all types of autosomal recessive SMA are caused by mutations in the SMN (survival motor neuron) gene on chromosome 5. Deletion of the NAIP (neuronal apoptosis inhibitory protein) gene that is close to the SMN gene is also associated with SMA. SMA is divided into subtypes based on age of onset of symptoms and maximum function achieved.
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