Spoan syndrome: The rare genetic disorder that is haunting a Brazilian town

A rare genetic mutation called ‘Spoan Syndrome’ that has been all over the internet has piqued the interest of many.

Spastic paraplegia, optic atrophy and neuropathy (SPOAN) syndrome causes muscle weakness and tightness that ultimately results in the inability to walk.

Symptoms:

According to the National Organisation of Rare Diseases (NORD), symptoms can include weaker lower limbs and motor skills, and the frailty of joints. Low vision or involuntary eye movement are the other symptoms that are associated with optic atrophy.

Once the syndrome is diagnosed, the disability may begin any time from infancy to early adolescence lasting a lifetime. According to a study published on the Bio Medical Central (BMC), all patients become wheelchair users after the age of 15 due to the deformity.

Cause of the disability

While the disability is caused due to a genetic mutation, research also proves many cases where both parents have inherited the mutation.

The research conducted by Silvana Santos, a biologist and geneticist, brought the term ‘Spoan’ syndrome after the publication of her study in 2005. She had witnessed how an entire town of children was equally affected by a disability. What was later revealed is that most of the couples in the town who got married belonged to the same family. 

 "If a couple is unrelated, the chance of having a child with a rare genetic disorder or disability is about 2–3%. For cousins, the risk rises to 5–6% per pregnancy," explains geneticist Luzivan Costa Reis from Brazil's Federal University of Rio Grande do Sul.

Research and study

According to the study published in BMC, more than 70 cases were reported, two in Egypt and the rest in Brazil. However, from Santos’s research, there may be the possibility for the mutation to exist globally, especially in Portugal.

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