Lou Gehrig, the famous New York Yankees first baseman, was known as the “Iron Horse” for his batting skills and durability. Elected to the Baseball Hall of Fame and voted the greatest first baseman of all time, he set records that stood for over 50 years. In 1939, on his 36thbirthday, he was diagnosed with the incurable neuromuscular disease amyotrophic lateral sclerosis (ALS), which caused his retirement at age 36 and his death at age 37.
The disease was named Lou Gehrig’s disease in his honor, but is perhaps better known for another prominent patient, Stephen Hawking. He was luckier than Lou. He had an early-onset, slowly-progressing form of the same disease. It deprived him of mobility and speech; but with the help of a motorized wheelchair and speech synthesizer, he lived an active, productive life as a scientist, author, and prominent public figure.
Hawking proved his doctors wrong: they had given him a life expectancy of two years, but he didn’t die until over a half century later, at age 76. (Prognosis is not an exact science. Something to remember the next time you see a testimonial claiming “My doctor only gave me 6 months to live but thanks to this all-natural Snake Oil Miracle Cure I’m still alive 10 years later!”)
ALS is also known as motor neuron disease: the neurons that control voluntary muscles die. Symptoms include weakness, muscle spasms, pain, and difficulty speaking or swallowing. According to WebMD, “There’s no one test that can give you a certain diagnosis of ALS. So many of its symptoms can be caused by multiple conditions.” Diagnosis is based on symptoms and ruling out other diseases. It may be a syndrome with various causes rather than a single disease. And there’s no cure: treatment can only hope to alleviate symptoms and improve quality of life.
The cause is not known except for the 5-10% of cases that are genetic. Many associations with environmental factors have been found, but causation has not been established. Head injury is associated with ALS, but it’s not clear if it is a cause or a result. Football and other sports injuries have come under suspicion. One (probably inaccurate) study suggested that Italian soccer players were 11 times as likely to die of ALS as the general population.
Chronic traumatic encephalopathy (CTE)
CTE is a late development in 30% of patients with repeated head injuries. It was first noticed as a “punch-drunk” syndrome in boxers, and has been identified in many professional athletes, especially in contact sports. Traumatic brain injuries (TBI) have been prominently featured in the newsrecently as “invisible injuries” in soldiers returning from Iraq and Afghanistan. More stringent guidelines have been established for returning athletes to play after a concussion. Concerns about childrenare increasing, leading some to prohibit children from playing tackle football. Even minor head injuries short of concussion can have cumulative consequences and can lead to irreversible damage. A 2017 meta-analysissupported an association between prior TBI and various neurologic and psychiatric diagnoses; the odds ratio for ALS was one of the highest.
Lou Gehrig’s diagnosis questioned
In 2010, McKee et al. published a studysuggesting that repetitive head trauma in collision sports might be associated with the development of a motor neuron disease. It was based on autopsy findings of abnormal proteins in the brains of 3 athletes. McKee herself stressed that the findings were preliminary, but the study prompted many to question whether Lou Gehrig was correctly diagnosed with ALS or actually had CTE as a result of his many concussions.
There were many reports in major media to the effect that “maybe Lou Gehrig didn’t die of Lou Gehrig’s disease.” Dr. Stanley Appel, chairman of neurology and director of the Methodist Neurological Institute in Houston argued against that claim. He said there is a lack of scientific evidence to support that brain trauma can mimic Lou Gehrig’s disease, and called the claim a disservice to Gehrig and others living with ALS. Alan Schwarz, the New York Times reporter who covered McKee’s study, said the controversy was overblown: “What both sides appear to attest — that ALS is a clinical diagnosis which Lou Gehrig had, and that some patients diagnosed with ALS have a form of it caused by brain trauma that can have an additional name but remain under the ALS motor-neuron-disease umbrella — can in fact coexist rather comfortably until everything is sorted out.”
Quibbling
To my mind, this is silly quibbling over terminology for a disease or group of diseases that we don’t yet understand. In one sense, you can’t deny that Lou Gehrig had Lou Gehrig’s disease: it was his body, so whatever disease he died of was his disease, Lou Gehrig’s disease.
It’s important to investigate further and try to understand the pathology, the risk factors, and possible preventive measures. But the designation of names is of academic interest only. “A rose by any other name…” Whatever you call it, it paralyzes motor neurons and kills patients.
The bottom line
The take-home message is that head injuries, even minor ones, can cause permanent harm. You only get one brain, and it’s worth protecting. I couldn’t care less what the experts decide to call Lou Gehrig’s illness, but I care very much whether our children’s potential is being sabotaged in the name of sports.
This article was originally published as a SkepDoc’s Corner column on the CSI website
