By; Charles Ndushabandi
Two Rwandan siblings have been diagnosed with a rare genetic condition that affects movement and muscle control, doctors said.
The children, both under 10, were found to have Autosomal Recessive Hereditary Spastic Paraplegia Type 52 (SPG52) a disorder so uncommon that only a few cases have been reported worldwide.
Their symptoms began in early childhood, including stiff limbs, delayed motor development, and difficulty walking. Brain scans initially showed no structural abnormalities, making diagnosis challenging.
Doctors at the University Teaching Hospital of Kigali confirmed the condition through whole-exome genetic sequencing, identifying a rare mutation in the AP4S1 gene.
“There was no clear reason for their progressive muscle stiffness,” said Dr. Aimée Uwimana, a neurologist at the hospital. “Genetic testing finally provided answers and allowed us to plan proper care.”
There is no cure for SPG52, but the siblings are receiving physiotherapy and medication to manage symptoms. Their mother said the diagnosis helped her family understand the children’s condition and focus on rehabilitation.
Experts said the case marks one of the first confirmed diagnoses of SPG52 in Sub-Saharan Africa, highlighting the importance of genetic testing for children with unexplained developmental delays.
The Ministry of Health said it plans to expand genetic screening services to improve early diagnosis and care for children with rare disorders, aiming to help families like these better navigate medical and therapeutic options.
