Medical Care in China

Spinal muscular atrophy
Treatment in China

Provide a clear and complete coordinated pathway from expert assessment to treatment and rehabilitation.

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Neurology and neurosurgery work togetherto develop a treatment plan based on the patient's condition.
Precise neurological diagnosiscombines imaging, electrophysiology, and laboratory tests.
Complex disease treatmentcovers cerebrovascular diseases, epilepsy, Parkinson's disease, and neuro-oncology.
Functional recovery supportcombined with rehabilitation therapy promotes the recovery of motor and cognitive functions.

Condition Guide

About Spinal muscular atrophy

Understand the condition, common triggers and treatment options that may require specialist assessment.

Disease Introduction

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease caused by the deletion or mutation of the SMN1 gene, leading to insufficient SMN protein in the body and the gradual degeneration and necrosis of motor neurons in the anterior horn of the spinal cord. Affected children may experience flaccid limbs, difficulty lifting their heads, and difficulty swallowing and breathing from infancy. Without intervention, they will gradually lose the ability to sit, stand, and walk. The general principle of treatment is early screening and diagnosis combined with multidisciplinary management centered on increasing SMN protein levels. Currently, there are three types of disease-modifying treatments available: intrathecal injection, daily oral administration of small molecules, and one-time gene replacement.

Cutting-edge high-precision diagnostic and treatment technologies

  1. Intrathecal nusinersen : Antisense oligonucleotide drugs injected intrathecally via lumbar puncture regulate SMN2 gene splicing. In the CHERISH trial, at 15 months, the HFMSE exercise scale showed an improvement of approximately 4.9 points compared to the sham surgery group. Since January 2022, it has been included in the national medical insurance program, and the cost per injection has been reduced from approximately 700,000 yuan to approximately 33,000 yuan.
  2. Oral liscperam : A small molecule SMN2 splicing modulator administered orally once daily, covering all age groups from 2 months to 6 months of age; in February 2025, the FDA and the Japanese PMDA approved a new 5mg tablet formulation, which is convenient for older patients to administer and does not require refrigeration.
  3. AAV9 gene replacement : A single intravenous infusion delivers the SMN1 functional gene. In May 2019, the FDA approved it for use in children under 2 years old. As of September 2026, its marketing application in China has not yet been approved by the NMPA.
  4. Newborn screening and treatment : The 2025 expert consensus recommends screening all newborns for homozygous deletion of exon 7 of SMN1. Those who test positive should be diagnosed and disease correction therapy should be initiated within 15 to 30 days of age.
  5. Guidelines for the diagnosis and treatment of rare diseases : In July 2025, the National Health Commission issued guidelines for the diagnosis and treatment of 86 rare diseases (2025 edition), which standardized the diagnosis and treatment pathways for the second batch of rare disease catalogs, including SMA.

Care Overview

Spinal muscular atrophy Treatment in China

The medical team will develop a personalized protocol based on the pathology type, stage, genetic test, previous treatment history, and the patient's physical condition.

Leading Specialists

Trusted Expertise Across Leading Specialties

Gu Yuxiang

Chief Physician, Professor, Doctoral Supervisor, Director of Cerebrovascular Disease Subspecialty

Neurology

-Research areas : Cerebrovascular diseases, Moyamoya disease, intracranial aneurysms; - Areas of expertise: cerebrovascular complex surgery, intracranial and extracranial vascular bypass, FLOW00 intraoperative perfusion assessment; - Areas of expertise: Intracranial aneurysm, cerebral AVM, Moyamoya disease, spontaneous intracerebral hemorrhage; - Academic Highlights & Core Values: Innovative "Huashan Solution" for cerebrovascular composite surgery; Leading expert in surgical diagnosis and treatment of moy

Huashan Hospital Affiliated to Fudan University logo Affiliated Hospital Huashan Hospital Affiliated to Fudan University
Yuan Ying

Associate Chief Physician

Neurology

Research areas : neurogenic dysphagia, aphasia, cognitive rehabilitation; cutting-edge technology: stepwise rehabilitation for dysphagia after stroke; areas of expertise: dysphagia after brain injury, dysarthria, cognitive and memory decline; academic highlights: authoritative expert in speech and cognitive rehabilitation; core value: establishing screening and rehabilitation pathways for neurogenic swallowing and language disorders to reduce the risk of aspiration.

Xuanwu Hospital (First Clinical Medical College), Capital Medical University logo Affiliated Hospital Xuanwu Hospital (First Clinical Medical College), Capital Medical University
Wu Yi

Chief Physician, Professor, Doctoral Supervisor, Director of the Department of Rehabilitation Medicine , and Director of the Department of Rehabilitation Medicine, Shanghai Medical College of Fudan University.

Neurology

Research Areas : Rehabilitation assessment and treatment of functional impairments after stroke; rehabilitation treatment of hemiplegia due to stroke/traumatic brain injury, paraplegia due to spinal cord injury, altered consciousness, aphasia, and dysphagia. Cutting-Edge Technologies: Innovatively proposed the concept of "precise positioning, precise diagnosis, and precise rehabilitation," pioneering the integration of imaging, neurophysiology, and near-infrared brain function detection technologies into

Huashan Hospital Affiliated to Fudan University logo Affiliated Hospital Huashan Hospital Affiliated to Fudan University
Lu Jiahong

Chief Physician, Professor, Doctoral Supervisor, Director of the Neuroimmunology/Myopathy Subspecialty

Neurology

-Research areas : Myasthenia gravis, inflammatory myopathy, autoimmune encephalitis; - Areas of expertise: Neuromuscular antibody profiling, individualized immune modulation for myasthenia gravis, plasma exchange/immunoadsorption therapy; - Diseases specializing in: Myasthenia gravis, polymyositis, dermatomyositis, autoimmune encephalitis, neuromyelitis optica spectrum disorders; - Academic Highlights & Core Values: A leading authority on neuroimmunological diseases in China, the author of the national gu

Huashan Hospital Affiliated to Fudan University logo Affiliated Hospital Huashan Hospital Affiliated to Fudan University
Cheng Xin

Chief Physician, Professor, Doctoral Supervisor, Deputy Director of the Department of Neurology, Huashan Hospital.

Neurology

Research areas : Acute treatment of cerebrovascular diseases and clinical and basic research on cerebral small vessel diseases. Cutting-edge technology: Over 10 years of experience in managing the acute stroke green channel at Huashan Hospital; specializing in acute stroke treatment procedures, intravenous thrombolysis, endovascular therapy, and multimodal imaging assessment; leading a national key science and technology project and conducting original research on the pathogenesis of cerebral small vessel

Huashan Hospital Affiliated to Fudan University logo Affiliated Hospital Huashan Hospital Affiliated to Fudan University
Wang Yuping

Chief Physician, Professor, Doctoral Supervisor, Former Department Head

Neurology

Research areas : Epilepsy, sleep disorders, neuromodulation; Cutting-edge technologies: Magnetoencephalography (MEG) for epileptogenic focus localization, neuromodulation therapy for refractory epilepsy; Areas of expertise: All types of epilepsy, narcolepsy, restless legs syndrome; Academic highlights: Leading expert in epilepsy and sleep medicine in China; Core value: Establishing integrated diagnosis and treatment standards for epilepsy and sleep disorders in China. Su Fengzeng (Chief Physician, Profess

Xuanwu Hospital (First Clinical Medical College), Capital Medical University logo Affiliated Hospital Xuanwu Hospital (First Clinical Medical College), Capital Medical University

Patient Stories

See the Next Step Through Patient Journeys

Fighting NMDAR Encephalitis - Repelling a CASE 01
PATIENT JOURNEY

Fighting NMDAR Encephalitis - Repelling a "Rare" Invasion

Neurology

Patient records Name: Aisha Khan Age: 34 Nationality: Pakistan (Karachi) Diagnosis: Anti-NMDAR encephalitis (associated with ovarian teratoma) Treatment Hospital: Peking Union Medical College Hospital, Chinese Academy of Medical Sciences – Neurology/Rheumatology/Obstetrics and Gynecology MDT Team In the video Aisha sent, she was holding her newborn baby, her face beaming with a happy and peaceful smile. In the video, she said, "Thank you for helping me fight off that 'rare' demon that almost took everyth

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Alzheimer's Disease - Unveiling the Mystery of CASE 02
PATIENT JOURNEY

Alzheimer's Disease - Unveiling the Mystery of "Forgetting"

RehabilitationNeurology

Patient records Name: David Miller Age: 68 Nationality: Australia (Melbourne) Diagnosis: Alzheimer's disease (stage of mild cognitive impairment progressing to dementia, Aβ-PET positive, ApoE ε4 carrier) Treatment Hospital: Department of Neurology, Xuanwu Hospital, Capital Medical University / National Clinical Research Center for Geriatric Diseases Mr. David's daughter sent me a video showing David sitting at the piano, playing Chopin's Nocturne with fluid grace. His eyes were focused, his fingers danc

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Primary Hemifacial Spasm - Releasing the CASE 03
PATIENT JOURNEY

Primary Hemifacial Spasm - Releasing the "Tight Band" on the Face

Neurology

Patient records Name: Tanaka Yuki Age: 55 Nationality: Japan (Fukuoka) Diagnosis: Primary hemifacial spasm (left side, 5-year course, reduced effectiveness of botulinum toxin treatment, severely affecting social life) Treatment Hospital: Department of Neurosurgery, West China Hospital of Sichuan University In the video sent by Ms. Yuki, she is dressed in an elegant kimono, smiling as she serves tea to guests in a tea ceremony classroom. Her expression is gentle and natural, with no more twitching in her l

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Drug-Refractory Temporal Lobe Epilepsy - Taming the Brain's CASE 04
PATIENT JOURNEY

Drug-Refractory Temporal Lobe Epilepsy - Taming the Brain's "Electrical Storm"

Neurology

Patient records Name: Lily Anderson Age: 28 Nationality: British (London) Diagnosis: Drug-resistant temporal lobe epilepsy (complex partial seizures, 4-5 seizures per month, MRI showing right hippocampal sclerosis) Treatment Hospital: Department of Neurosurgery, Huashan Hospital Affiliated to Fudan University Core technology: Precise anterior temporal lobectomy with brain functional area localization assistance under intraoperative awake anesthesia. In the latest video Lily sent, she stands confidently in

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