At the beginning of December last year, the National Medical Insurance Bureau announced 74 new drugs for medical insurance. China's first approved treatment, spinal muscular dystrophy imported drug "Northinal Sodium Injection" suffered from "soul bargaining", and finally entered the new version of the medical insurance drug catalog with a "floor price" of 33,000 yuan per needle, and began to implement the new drug price from the first day of the new year. In Zaozhuang, Shandong, a 4-year-old boy Li Jiashu became the first person in the country to inject this drug after it was included in medical insurance, and after learning that the injection was successful, Xiao Jiashu's mother, who had been staying outside the ward, finally put her mind at ease.
First, what is spinal muscular atrophy
Spinal muscular atrophy, referred to as SMA, is a rare disease of the hereditary neuromuscular disease class, which is a type of disease caused by degeneration of motor neurons in the anterior horn of the spinal cord, resulting in muscle weakness and muscle atrophy. It is an autosomal recessive disease and is not uncommon clinically. The clinical manifestations of this disease vary greatly, and SMA is divided into 4 types from heavy to mild according to the age of onset and clinical course of the patient. Common features are degeneration of anterior horn cells of the spinal cord, clinical manifestations are progressive, symmetrical, generalized flaccid paralysis and muscular atrophy with proximal limbs, and normal intellectual development and sensation.
2. Clinical symptoms of spinal muscular atrophy
The main clinical features of SMA are muscle weakness and decreased muscle tone in the trunk and proximal limbs, and gradual atrophy of the affected muscles. Muscle weakness is symmetrical, the lower extremities are significantly heavier than the upper extremities, the proximal end is heavier than the distal end, and the deep tendon reflex is absent or weakened, but sensitivity is preserved. The muscles of the pharynx, neck, and trunk are also affected, and the child presents with soft limbs and unable to lift their heads. Myocardium and smooth muscle are rarely involved. But over the past few years there has been growing evidence that in some cases, severe SMA0-I (generally carrying a copy of SMN2) may have heart defects, mainly atria and ventricular septal defects, which may produce arrhythmias and sudden death. As the disease progresses, ball paralysis becomes more pronounced, tongue muscle atrophy and tremor are also prominent, and sucking and swallowing are difficult. Aspiration pneumonia is an important cause of morbidity and mortality. Tendon reflexes weaken to the point of disappearance. The facial muscles are not affected and the baby's expression is normal. Superficial sensation is normal, no intelligence and sphincter disorders.
3. Treatment of spinal muscular atrophy
drug therapy
Prevention or treatment of various complications of SMA
Rehabilitation