Rare C-shaped curve in lower spine seen in boy with SMA type 3

Genetic test confirmed disease marked by spinal deformity, limb weakness

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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A doctor uses a stethoscope to listen to the heart of a child sitting on a parent's lap.

The case of a boy with spinal muscular atrophy (SMA) who had severe hyperlordosis — when the lower part of the spine curves more than is normal, forcing the belly to protrude and leading to an almost C-shaped curve over the buttocks — was described in a recent report.

Scoliosis, where the spine bends abnormally to one side, is a common and well-known symptom of SMA. Hyperlordosis is a much rarer spinal complication of the disease.

“Our goal in presenting this case study was to demonstrate that hyperlordosis is a possible symptom of SMA,” the scientists wrote in their paper, “Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report.” It was published in Cureus.

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The scientists, based in India, described the case of an 11-year-old boy who was brought to their hospital by his parents. The parents reported that his development in infancy was unremarkable, but when he was about 1 year old he started having notable difficulty standing, and he wasn’t able to walk until a much later age than is typical.

In addition to severe hyperlordosis, the boy had abnormally thin and weak legs, and clinical assessment revealed a lack of deep tendon reflexes. These are common signs of SMA.

Based on his condition, clinicians suspected the boy might have SMA, and they ordered genetic testing to confirm a disease diagnosis. This indeed revealed SMA-causing mutations in the SMN gene.

Since the boy was able to walk and his symptoms started in childhood, he was specifically diagnosed with type 3 SMA.

Doctors advised that the boy start treatment with Spinraza (nusinersen), an approved therapy from Biogen that works to slow disease progression. However, his family has not been able to afford this medication, and the child instead is receiving supportive care that includes physical and occupational therapy.

“When available, therapy with [Spinraza] is advised for the majority of patients despite its high cost ($125,000/dose), as it can prevent the condition from getting worse and prevent respiratory failure and death,” the scientists wrote.

“Another drug, risdiplam [Evrysdi], which modulates the splicing of SMN2 is also of importance in the treatment. It is cheaper and given orally which promises compliance in the patient population,” they added, noting a need to increase access to lifesaving treatments for SMA.