Spinal muscular atrophy (SMA) is a rare autosomal recessive neurological disorder that will lead to the degeneration of anterior horn cells of spinal cord, for which the patients present myasthenia and atrophy of muscles in four extremities and the trunk. The disease is rare with the morbidity of 1/6,000-1/10,000 persons, and it can occur in infants, children and adults. Previously no effective therapy has been identified for this disease. On December 23, 2016, Food and Drug Administration (FDA) approved Spinraza for treating SMA. It is the first precision targeted therapy drug for SMA globally, but requires lumbar puncture intrathecal injection. However, it is a challenge to carry out lumbar puncture for the majority of adult patients with SMA due to the complicated scoliosis.

On February 19, 2022, with detailed electromyographical assessment and neuromotor assessment and under the guidance of Prof. Dang Jingxia, attending physician Qin Xing in the Department of Neurology successfully completed Spinraza through lumbar puncture intrathecal injection in one SMA patient. The treatment process was successful and no special discomfort was reported. It is a great challenge to carry out the lumbar puncture because the patient has suffered from diseases since the childhood and cannot walk for many years, leading to very significant scoliosis, together with the obesity symptom. Under the ultrasound guidance, Prof. Dang Jingxia and attending physician Qin Xing successfully completed the lumbar puncture and intrathecal injection. This patient is the first adult patient with SMA to undergo Spinraza therapy, marking our hospital is leading the country in the diagnosis and treatment of SMA. Many patients to date have been registered for treatment, and our department will admit them for diagnosis and treatment as soon as possible.

As the national regional medical center for neurological disorders and the leader of Northwest Cooperative Group, China Alliance for Rare Diseases, the Department of Neurology will continue to make contributions to comprehensively improve the diagnosis and treatment level of refractory neurological disorders and rare diseases in the northwest region to meet the demands of the patients. A center for diagnosis and treatment of SMA in the northwest region intends to be established in the near future to provide diagnosis and treatment services to more patients with SMA.