Spinal Muscular Atrophy - UpToDate

Metadata

• Author: uptodate.com
• Full Title: Spinal Muscular Atrophy - UpToDate
• Category: #articles
• URL: https://www.uptodate.com/contents/spinal-muscular-atrophy?search=spinal muscular atrophy anesthesia&source=search_result&selectedTitle=1~150&usage_type=default&display_rank=1
• Tag Spinal Muscular Atrophy

Highlights

• Spinal muscular atrophy (SMA) is characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem, which results in progressive muscle weakness and atrophy. (View Highlight)
• The inheritance pattern of chromosome 5q-related SMA is autosomal recessive (View Highlight)
• Patients with all forms of SMA have diffuse symmetric proximal muscle weakness that is greater in the lower than upper limbs, and absent or markedly decreased deep tendon reflexes (View Highlight)
• SMA is associated with a restrictive, progressive respiratory insufficiency, particularly SMA type 0 and type 1 (View Highlight)