Rare condition cost him his marriage, his work and his confidence

Medical Mysteries is a series that spotlights rare diseases or unusual conditions.

- Judith Tan

Tour guide Warren Sheldon Humphries was 47 when he started noticing that he was walking strangely and had poor grip strength.

He was working as a funeral director then.

"I had just started at that new job, so I did not give (my weakness) much attention," said Mr Humphries, who was then in his second marriage and had a daughter with his first wife.

Eventually, he decided to seek help and was referred to the National Neuroscience Institute (NNI), where he did not receive a definitive diagnosis but was monitored.

"I had follow-up checks at NNI at six-month intervals, and I skipped them. You could say I just let the condition be," he told The Straits Times.

Over the next four years, his condition worsened, and different doctors continued to be baffled by it.

"(I was told) it was muscle dystrophy, kidney-related issues, spondylosis caused by lower-back injuries from national service. One (doctor) even said it was possibly a stroke," said Mr Humphries, who is now 55 and uses a wheelchair.

In April 2020, he was finally diagnosed with Charcot-Marie-Tooth (CMT) disease, a rare hereditary motor and sensory disorder characterised by progressive loss of muscle and loss of the sensation of touch across various parts of the body.

Dr Joy Vijayan, a consultant with NNI's Department of Neurology, said of the disease: "It is categorised into many different subtypes based on the part of the nerve affected, the deficient or abnormal protein seen and the inheritance pattern.

"It usually presents with motor and sensory symptoms in the form of weakness, loss of sensation and unsteadiness of gait."