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无力、舌肌萎缩、脊髓性肌萎缩、肌肉假肥大、腱反射消失、吞咽困难、肌肉的失用性萎缩、感觉障碍
Spinal muscular atrophy (SMA) is an autosomal recessive disorder of anterior-horn motor neurons due to SMN1 gene deletion, causing symmetric progressive proximal muscle weakness and atrophy. Classified by onset/severity: type I (Werdnig-Hoffmann, infantile, severe), type II (intermediate), type III (Kugelberg-Welander, juvenile), and type IV (adult onset). Treatment: supportive (respiratory/nutrition/rehab) plus newer disease-modifying SMN2-modulating therapy (nusinersen/onasmnogene) when available; multidisciplinary care.
Symmetric proximal weakness; hypotonia; areflexia; progressive muscle atrophy; onset infancy/childhood/adult by type; respiratory involvement
SMN1 mutation causes deficient survival motor-neuron protein, leading to anterior-horn motor-neuron degeneration and weakness.
SMN2-modulating therapy; supportive respiratory/nutrition care; physical/occupational therapy; multidisciplinary
Genetic counseling/newborn screening; early treatment; supportive care.
It is recommended to visit the Neurology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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