In an armchair since he was 13, Rufino Borrego has been able to walk again. A diagnostic error prevented him from accessing treatment for 40 years.
Stuck in a chair because of a misdiagnosis. Rufino Borrego spent 43 years thinking he had muscular dystrophy. This Portuguese in his sixties must have believed in the miracle during his last medical appointment. As the Portuguese newspaper reveals Jornal de Noticias, he actually suffered from congenital myasthenia gravis. This disease can be treated. After several decades in a wheelchair, the man was able to stand on his own two feet.
The mistake was old and it was a neurologist who corrected the situation. At the age of 13, Rufino Borrego received a firm and definitive diagnosis: he suffered from muscular dystrophy, an incurable disease. The way out is the wheelchair, says the Santa Maria Hospital in Lisbon. It was not until 2010 that the real pathology of this Portuguese was brought to light.
Medicines and physiotherapy
The man actually suffers from congenital myasthenia gravis, which results in weakness in the legs. Indeed, a DNA anomaly disrupts the proper functioning of neuromuscular junctions. This is the area of communication between the motor nerve – which governs mobility – and the muscle. The wrong diagnosis can be understood: the symptoms are close. But above all: congenital myasthenia gravis is a rare disease. It affects one in 250,000 people.
The good news is that this disease is treatable, unlike muscular dystrophy. The treatment that has been administered is to Rufino Borrego is the origin indicated in asthma. Two annual physiotherapy sessions are also administered. Result: in 2011, one year after the real diagnosis, Rufino Borrego was able to go to his favorite bistro, in Alandroal in the south-east of the country. For the first time, he did it on his own two legs.
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