A Case Report: When Family History Holds the Clue: A Prolonged Diagnostic Journey to Spinal Muscular Atrophy
This case report describes a 12-year-old boy with a delayed diagnosis of Spinal Muscular Atrophy type 3, initially mislabeled with orthopedic club feet despite a positive family history, highlighting the critical need for clinicians to recognize SMA in patients presenting with progressive proximal weakness, hypotonia, and areflexia to facilitate early access to disease-modifying therapies.
Original paper licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). This is an AI-generated explanation of the paper below. It is not written or endorsed by the authors. For technical accuracy, refer to the original paper. Read full disclaimer
The human body is a complex machine where nerves act as the wiring, sending signals from the brain to tell muscles when to move. Sometimes, this wiring system has a hidden flaw that causes the muscles to weaken over time. One such condition is spinal muscular atrophy, a genetic disorder where the nerves that control movement slowly stop working. This happens because of a missing piece of genetic code in a specific gene, which means the body cannot make enough of a vital protein needed to keep those nerves alive. While the condition affects the muscles, the problem actually starts in the nerves. Because the nerves fail, the muscles they control shrink and become weak. The severity of the condition depends on how much of a backup system the body has; some people have a second gene that can partially make up for the missing piece, while others do not. When this condition appears in children who have already learned to walk, it often looks like a simple problem with how they move, leading to confusion about what is actually wrong.
In a recent case report from Ethiopia, a team of doctors followed the story of a twelve-year-old boy whose journey to a correct diagnosis took more than a decade. The boy had learned to walk on his own at about one year of age, but by the time he was eighteen months old, he began to stumble and fall after walking only short distances. As he grew older, he found it increasingly hard to stand up from a chair, climb stairs, or run. At the age of three, he was taken to a local hospital where doctors, seeing that his feet were turned inward, diagnosed him with a common foot condition known as club feet. He was fitted with special shoes to correct the shape of his feet, but his walking did not improve. The family stopped following up because the treatment seemed to have no effect, and the boy continued to struggle with his mobility.
Years later, the boy's mother noticed something that changed the course of the investigation. She recalled that his older brother, now twenty-seven, had faced a very similar struggle. The brother had also started having trouble standing up as a toddler and eventually needed a wheelchair to get around, though he remained able to use his hands for writing and fixing electronics. This family history suggested that the problem was not just a local issue with the boy's feet, but a condition that ran in the family. When the boy was finally examined by a neurologist at age twelve, the doctor saw a pattern that pointed away from a simple orthopedic issue. The boy had a waddling walk, his legs were weak near the hips but stronger at the feet, and he had to use his hands to push himself up from the floor. He also had a deep curve in his lower back, and when the doctor tapped his knees and ankles, there was no reflex. Most importantly, the doctor noticed tiny, involuntary twitching movements on the boy's tongue, a sign that the nerves controlling the muscles were failing.
To understand what was happening, the medical team ran a series of tests. Blood work showed that the boy's muscle enzymes were normal, which helped rule out diseases that cause muscles to break down directly. A test that measures the electrical activity of the muscles showed a mix of nerve and muscle changes, while a test of the nerves themselves showed that the signals traveling to the legs were weak and damaged. However, the most important discovery came from a genetic test. The doctors looked at the boy's DNA and found that he was missing two copies of a specific part of a gene called SMN1. This missing piece confirmed that the boy had spinal muscular atrophy. The specific type of the disease, known as type 3, fits his story perfectly because he learned to walk before the symptoms started and has been able to walk, albeit with difficulty, for many years.
The report highlights a critical lesson for doctors and families: when a child who has already learned to walk begins to lose that ability, the cause might not be in the bones or joints, but in the nerves. In this case, the early diagnosis of club feet delayed the recognition of the true problem for nearly ten years. The doctors also noted that while there are new, powerful medicines available in some parts of the world that can change the course of this disease, they are not yet accessible in Ethiopia. Because of this, the boy was started on a different medication, a common asthma drug, which some studies suggest might help the body make a little more of the missing protein. While this is not a cure, it represents a practical step taken in a setting where the newest treatments are not available. The case serves as a reminder that a careful look at family history and a close examination of how a child moves can reveal the true nature of a hidden illness, even after years of uncertainty.
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