Spinal muscular atrophy (SMA) is a group of genetically inherited, progressive neuromuscular diseases. It is caused by a missing or mutated SMN1 gene, which leads to the loss of motor neurons in the spinal cord and brainstem and, in turn, weakness and wasting of voluntary muscles throughout the body. Before modern treatments became available, severe SMA was one of the leading genetic causes of death in infants.
What is Spinal Muscular Atrophy?
It is estimated that spinal muscular atrophy affects one in 7000 babies born, and that about one in 50 people are genetic carriers of the disease. SMA is an autosomal recessive genetic disorder, which means that most cases of SMA can be attributed to getting defective genes from both parents. It is believed that if both parents are carriers of this genetic disorder, the chance of the child developing this disease is 25%. Potential parents can use a carrier screening blood test to see if they carry this gene change, and couples who are both carriers can discuss options such as preimplantation genetic testing (PGT) of embryos during IVF with a genetic counselor.
4 Types & Classifications of SMA disease
- SMA type I, the most severe type, is also known as Werdnig-Hoffman disease.
- SMA type II is less severe than type I, as reported by patients. Typically, infants do not present with symptoms of SMA in early infancy; however, they become progressively weaker over time.
- SMA type III is a less severe form that typically begins after 18 months of age, in childhood or adolescence, and progressively worsens with age.
- SMA type IV is the least severe disease, in which weakness and muscle wasting typically begin in adulthood.
Due to its genetic nature, traditional treatments that only manage symptoms cannot correct the underlying cause. Approved SMN-targeting treatments, including nusinersen, risdiplam and the gene therapy onasemnogene abeparvovec, can slow or stabilize the disease and work best when started early, ideally before symptoms appear. Neural stem cell transplants are investigational and have not been shown to control SMA or bring about remission.
Symptoms of SMA
Muscle weakness in the legs and shoulder muscles is the first sign of the disease. Weakness and muscle atrophy get significantly worse over time and can eventually lead to complete paralysis and death.
Patients with SMA also have significant difficulty with physical activities such as walking, crawling, coordination, neck and head control, and dysphagia ( trouble swallowing ). Patients with SMA also have a significantly higher risk of developing respiratory complications due to respiratory muscle dysfunction.
Other symptoms include:
Motor nerve and muscle
The main parts of a motor neuron and its connections with muscle fibers.
- Muscle atrophy
- Muscle weakness
- Areflexia
- Arthritis
- Trouble Breathing
- Thin muscle mass
- Trouble eating or swallowing
- Lack of head and neck control
- Tongue twitching (fasciculations)
- Atrophic muscle changes
- Muscle twitching
- Anomic Aphasia
- Sensory neuropathies
- Difficulty sitting up, walking, or crawling (infants )
- Thin muscle mass
- Missing tendon reflexes
- Fasciculations
- Clubfoot
- Impotence, ED, anda reduction in sexual potency
Testing and Diagnosis
Testing or diagnosis of SMA can be performed before, during, or even after pregnancy. Please note that a neurologist’s diagnosis from your home country is required for all potential patients. The first two options are preventive and can be performed using blood, tissue, or genetic samples at a prenatal testing laboratory. The last option is for those who are alive but displaying disease symptoms. Blood samples are required for genetic testing to check for the faulty gene that causes SMA. Trained physicians can also carry out physical examinations to look for certain signs and symptoms, such as:
- Reduction or absence of tendon reflexes
- Involuntary twitching of muscle fibers
- Signs of muscle weakness and wastage
Neural Cell Transplants for Spinal Muscular Atrophy
The underlying cause of SMA is a missing or severely mutated gene known as SMN1 or “Survival Motor Neuron 1.” SMN1 produces a protein called SMN, or “Survival Motor Neuron” protein. This protein (or lack thereof) is required for healthy motor neurons (nerve cells) that act as the wires of the spinal cord and signal to muscles throughout the body. Without the SMN protein, nerve cells begin to atrophy and eventually die, leading to symptoms of muscle weakness and limpness.
Stem Cell Treatment for SMA in 2026
The regeneration center offers effective therapeutic solutions for the family of neuromuscular diseases such as ALS, Ataxia, Brain Strokes, Motor Neuron disease, Parkinson’s, MS, and Alzheimer’s. The estimated two-week treatment protocol in Bangkok targets the increased production of the SMN 1 and 2 genes responsible for healthy motor-neuron functions.[1]
We use laboratory-enhanced allogeneic mesenchymal cells derived from the umbilical cord, Amniotic fluid, or healthy placentas. Our treatment protocol is unique because we focus on engrafting enriched neural cells that produce neurotrophic factors, which are primarily responsible for the growth, survival, and function of mature neurons.[2] Neurotrophic factors and exosomes also inhibit HGK kinases and GSK-3, thereby preventing premature motor-neuron cell death. Learn more about stem cell therapies.
Our SMA stem cell treatment helps slow the rapid progression of the disease and has been used in regenerative medicine for over 20 years to treat a wide variety of spinal cord injuries and other neuromuscular diseases that disrupt the proper flow of neural signals that control our nerve and voluntary muscular movement.[3]
Cell sources and terminology
A guide to the source labels used in the laboratory illustration.
- Adipose tissue
ADSC
- Bone marrow
BM-MSC
- Peripheral blood
PB-MSC
- Placental tissue
P-MSC
- Umbilical cord
UC-MSC
- UC-MSC+
The Regeneration Center’s terminology used in this article.
SMA Treatment Overview
Delivery Methods for MSC+ and Neural Stem Cells: The type of cellular infusion will vary based on patient needs. The stem cells can be administered using a combination of Intravenous infusions, stereotactic-guided delivery, inhalation therapy via micro-nebulized mesenchymal cells, Intrathecal infusions, and fluoroscopy-guided cell delivery (in a hospital setting only). All intrathecal injections at The Regeneration Center are done by a board-certified neurosurgeon and are needed to bypass the blood-brain barrier.
Physical Rehabilitation for “SMA”: Physical Rehabilitation therapy is optional but available full-time or part-time after treatment. Physical Rehabilitation can take place in Bangkok or your home country. We provide comprehensive rehabilitation facilities, medical visas, and accommodations for extended stays upon request.
SMA Therapy Guidelines
Due to the heterogeneity and severity of spinal muscular atrophy, the costs of treating it with neural progenitor stem cells will require a careful review of patients’ actual medical needs. Our medical team must review patient records. This can be done in person or via a virtual online consultation. To start the evaluation, we will require recent medical records, including any diagnostic exams such as recent Muscle biopsies, Brain MRI, or CT Scans. All test results should be less than three months old.
To request a new medical review for our multi-stage SMA treatment, please contact us today.
Published Clinical Citations
[1] ^ Grunseich, Christopher, Kristen Zukosky, Ilona R Kats, Laboni Ghosh, George G Harmison, Laura C Bott, Carlo Rinaldi, et al. 2014. Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients. Neurobiology of disease (June 9). doi:10.1016/j.nbd.2014.05.038. https://www.ncbi.nlm.nih.gov/pubmed/24925468
[2] ^ Wang, Zhi-Bo, Xiaoqing Zhang, and Xue-Jun Li. 2012. Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy. Cell research, no. 3 (December 4). doi:10.1038/cr.2012.166. https://www.ncbi.nlm.nih.gov/pubmed/23208423
[3] ^ Zanetta, Chiara, Giulietta Riboldi, Monica Nizzardo, Chiara Simone, Irene Faravelli, Nereo Bresolin, Giacomo P Comi, and Stefania Corti. 2014. Molecular, genetic, and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). Journal of cellular and molecular medicine, no. 2 (January 8). doi:10.1111/jcmm.12224. https://www.ncbi.nlm.nih.gov/pubmed/24400925