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| Dr Mattias Larsson. Photo courtesy of Family Medical Practice |
By Dr Mattias Larsson*
Trung was born full-term via caesarean section, with no complications at delivery. As the first child in his family, his early days seemed ordinary. However, by the time he was two months old, his parents noticed something was wrong.
Trung wasn’t moving his arms much and seemed unusually weak. He also struggled to breastfeed, as his sucking was weak, and he wasn’t gaining weight as expected. Over the next few months, he faced several respiratory infections, treated with antibiotics by local doctors, but no further investigations were done. At three months, he was hospitalised for severe pneumonia, where doctors noted his general weakness but did not explore the underlying cause.
Concerned and seeking answers, Trung’s parents took him to Family Medical Practice (FMP) at four months, having heard about its excellent paediatric care. They explained their worries: Trung seemed weak, had recurrent infections, and wasn’t growing properly.
The paediatrician examined him and found alarming signs: weak reflexes, reduced muscle tone and a “floppy” appearance. Trung didn’t reach for objects or grip them as expected, and he often lay in a splayed “frog-leg” posture. The paediatrician suspected muscular hypotonia and ordered tests to investigate further.
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| Babies with spinal muscular atrophy often struggle to meet motor milestones, such as sitting, standing or walking. Photo canva.com |
The results showed spinal muscular atrophy (SMA) type 1, caused by a mutation in the SMN1 gene. The paediatrician sat down with Trung’s parents to explain the condition. SMA type 1 is a genetic disorder that typically appears within the first six months of life, causing severe muscle weakness and hypotonia.
Babies with SMA often struggle to meet motor milestones, such as sitting, standing or walking. Respiratory muscle weakness can lead to breathing difficulties, a bell-shaped chest and feeding challenges. Tongue fasciculations — involuntary twitching — are also common. Despite these physical challenges, cognitive function remains unaffected.
The paediatrician explained that SMA type 1 is caused by a lack of the SMN protein, which is crucial for the survival of motor neurons. Although another gene, SMN2, can partially make up for the loss of SMN1, it cannot completely replace its function. The severity of symptoms often varies based on the number of SMN2 copies, with more copies resulting in milder forms of the disease.
Trung’s parents were devastated to hear about Trung’s condition and asked if there was some treatment or cure. The paediatrician explained that there are new treatments based on gene therapy. These therapies could slow the progression of SMA, offering Trung a chance at a better quality of life. However, the treatments were expensive and difficult to access.
The paediatrician said there was a possibility to access treatment through ongoing clinical trials and programmes to support children diagnosed with spinal muscular atrophy in low- and middle-income countries. In collaboration with the National Children’s Hospital, Trung could access treatment with one of these programmes.
Over the next few months, Trung began treatment, combined with physical therapy, respiratory support and nutritional care. By his one-year follow-up, the results were encouraging. Trung had gained weight and was now within the normal range on the growth chart. He could grasp objects and sit independently, milestones his parents had once feared he might never reach.
While he still struggled to stand and walk, his progress was undeniable. His parents, though exhausted, were deeply grateful for the early diagnosis and access to treatment and had faith that with the pace of ongoing medical research, there was great hope that Trung could live an almost normal life with minimal support. Family Medical Practice
*Dr Mattias Larsson is a paediatric doctor at FMP Hanoi and associate professor at Karolinska Institutet and has a long experience in research on infectious diseases. He has worked with the Oxford University Clinical Research Unit and the Ministry of Health of Việt Nam. He is fluent in English, Swedish, Vietnamese, German and some Spanish.
Read original story on Vietnam News