Early Signs and Lifelong Symptoms
Since childhood, Stuart Flett has possessed an unusually muscular physique without any dedicated training, but he has also suffered from severe muscle cramps and spasms throughout his life.
Now 60 years old, the former police officer from Barrow-in-Furness, Cumbria, has spent decades seeking a diagnosis for his condition.
Researchers now believe the explanation may be connected to his paternal heritage in Orkney, where his father was born.
They suspect that the Flett family carries a unique genetic trait that not only contributes to their strong physical build but also predisposes them to the rare genetic disorder neuromyotonia.
In 2024, the Viking Genes project initiated a study focusing on members of the Flett family from the Orkney island of Flotta, aiming to investigate a suspected inherited muscle-and-nerve disorder.
Neuromyotonia is characterized by symptoms such as severe muscle cramps, delayed muscle relaxation after movement, and muscle enlargement.
Both of Stuart's paternal grandparents were Orcadian; his grandmother's family originated from Westray and his grandfather's family from Flotta.
His father was born in Orkney but later relocated to England, where he met Stuart's mother.
"So that makes me 50% Orcadian," Stuart said.
He first noticed unusual symptoms around the age of seven, and as his muscles developed, he became increasingly aware of additional issues.
"I kind of got a hint once I'd reached early adulthood, when my muscles started to grow," he told BBC Radio Orkney.
"My father has always been immensely strong, not a big bloke but a strong guy. Folk would say 'you take after your dad then'. I just thought folk take after their father, that's how genetics work."
He explained further:
"In my younger days I had that kind of chiselled physique, but without going to the gym or doing any work.
"I was accused of taking steroids. Folk said 'you can't possibly have a physique like that without training'. I didn't think I was anything unusual until folk started pointing it out to me."
"Not so much now I'm getting old and flabby," he added jokingly.
Despite his impressive build, Stuart experienced challenging symptoms.
"When I activate a muscle, it's not like a cramp, the muscles just remain activated," he said. "Then a rippling sensation. I've lived with it all my life.
"The most difficult symptom to deal with is if I get knocked, that elicits whole body spasms, so I have to be very careful."
At one point, Stuart consulted an expert in inherited conditions.
"He called his counterpart and said 'I have a very interesting gentleman sitting in front of me who has the appearance of Arnold Schwarzenegger'."
Stuart described the comparison to Arnold Schwarzenegger as somewhat exaggerated.
"But eventually getting the genetic neuromyotonia diagnosis was a game changer," he said.
"It was vindication, he said, and not an imaginary condition."
Family History and Cultural Connections
Tracing back through generations, the pipe tune "Flett fae Flotta" (Flett from Flotta) was named after Flotta piper William Arnot Flett.
William Arnot Flett was renowned for his physical strength and distinctive gait, both of which are considered symptoms of the condition. The rhythm of the tune is said to mimic his walk.
Stuart is aware that several of his father's relatives in Flotta experienced muscle-related problems, as well as a relatively high incidence of motor neuron disease (MND) and Parkinson's disease.
His daughter, Dr Chloe Flett, a medical biochemist specializing in rare disorders, has also been diagnosed with neuromyotonia.
She said further research could help understand why the condition can encourage the development of large muscles.
"The knowledge may help future gene therapies to prevent muscle wasting or weakening in a range of other conditions.
"That's why finding the gene is so important," she said.
Stuart hopes the ongoing research will provide "clarity" for future generations of the Flett family.
Scientific Investigation and Future Prospects
Professor Jim Flett Wilson, who leads the Viking Genes studies, emphasized the significance of focusing on the Flett family.
"It's so so rare, it's one of the rarest conditions I've ever worked on, so it's in a whole different ballpark," he said.
"It's quite possible that whatever's causing it in Stuart Flett's family will be unique in the whole world, we simply don't know yet."
The research team is utilizing Orcadian volunteers and recruiting members of Stuart's extended family.
"We can use all these people and compare their DNA to try to find the gene that's causing this condition," he explained.
"We are pretty certain it's genetic, it's been four or five generations of his family have had these kind of symptoms.
"We're really still at the first stage of this."
Stuart expressed that his family is "firmly behind" the project and is "extremely grateful for the tireless work" of Professor Wilson and his team.
