Novartis, a Swiss pharmaceutical company, has developed a new drug "Zolgensma", which can be used to treat the rare genetic disease "spinal muscular dystrophy" (sma). However, the price of this drug is as high as 265,438+10,000 US dollars (about RMB14,480 yuan), which is the most expensive drug in history.

differential diagnosis

Spinal muscular atrophy should be distinguished from other diseases mainly characterized by hypotonia and bradykinesia. Muscle relaxation cerebral palsy should be differentiated from infantile SMA, both of which are characterized by hypotonia, but the former has tendon reflex and is often accompanied by mental retardation. The latter tendon reflex disappeared and his intelligence was normal. Electromyography showed neurogenic injury.

In addition, the disease should be differentiated from chronic inflammatory demyelinating polyneuropathy (CIDP), congenital myopathy and mitochondrial myopathy. In addition to the clinical characteristics of their respective diseases, electromyography and muscle biopsy results are important diagnostic basis.

The above contents refer to Baidu Encyclopedia-Spinal muscular atrophy.