03 March 2016 16:13:00

Lou Gehrig and motor neurone disease (MND)

In 1939 the American baseball player Lou Gehrig was diagnosed with motor neurone disease (MND) - most commonly, amyotrophic lateral sclerosis (AML) - usually referred to as 'Lou Gehrig's disease' in North America. This forced him to retire at age 36 and was the cause of his death two years later.

Lou Gehrig was an American who played 17 seasons in major league baseball for the New York Yankees from 1923 to 1939. Gehrig was renowned for his prowess as a hitter and for his stamina - traits that earned him his nickname, "The Iron Horse". He set several major league records during his career, including the most career grand slams (23) and most consecutive games played (2,130), a record that stood for 56 years and had been considered unbreakable.

When the Yankees began their 1939 training it was clear that Gehrig no longer possessed his once-formidable power. His running between bases was affected, and at one point he collapsed at the Yankees' spring training park. By the end of spring training, he had not hit a home run. Throughout his career, Gehrig was considered an excellent baserunner, but as the 1939 season got underway, his co-ordination and speed had deteriorated significantly.

By the end of April, his statistics were the worst of his career. One journalist who often wrote about him said: "I think there is something wrong with him. Physically wrong, I mean. I don't know what it is, but I am satisfied that it goes far beyond his ball-playing. I have seen ballplayers 'go' overnight, as Gehrig seems to have done. But they were simply washed up as ballplayers. It's something deeper than that in this case, though. I have watched him very closely and this is what I have seen: I have seen him time a ball perfectly, swing on it as hard as he can, meet it squarely - and drive a soft, looping fly over the infield. In other words, for some reason that I do not know, his old power isn't there... He is meeting the ball, time after time, and it isn't going anywhere."

In 1939 he was diagnosed with motor neurone disease (MND) - most commonly, amyotrophic lateral sclerosis (AML) - usually referred to as 'Lou Gehrig's disease' in North America. This forced him to retire at age 36 and was the cause of his death two years later.

MND is a rare but devastating illness which leads to progressive paralysis and eventual death. Although rare, many patients are both aware and fearful of it, as there have been several high-profile media campaigns concerning it recently, and one Oscar-winning film. NICE released new guidelines for its recognition and management in February 2016 and a few of the new points relevant to primary care that have been included this year, are covered below.

MND is mostly a sporadic disease of middle and elderly life with patients usually presenting in their sixties and seventies. However, it can present in younger patients, usually in familial types. The classic form of the disease is ALS which tends to be focal in onset, with a particular group of muscles affected first. This occurs in three patterns; limb onset (most common), bulbar (20%) and respiratory onset.

Although the least common presentation, the wary clinician should be mindful that the effects of reduced respiratory function, such as excessive daytime sleepiness, fatigue, early morning headache or shortness of breath when lying down, may indicate the diagnosis. Another atypical presentation is altered cognitive functioning, including fronto-temporal dementia. If you suspect MND, you are recommended to refer immediately and specify the possible diagnosis in the referral letter. Contact the consultant neurologist directly if you think the person needs to be seen urgently.

The guidelines recommend you consider advance care planning and offer the person with MND the opportunity to discuss their preferences and concerns about end of life care at trigger points such as: at diagnosis, if there is a significant change in respiratory function, or if interventions such as gastrostomy or non‑invasive ventilation are needed. These are often very difficult conversations to have and you are reminded to be sensitive about the timing of discussions and take into account the person's current communication ability, cognitive status and mental capacity. When planning care take into account the following prognostic factors, which are associated with shorter survival if they are present at diagnosis, such as speech and swallowing problems (bulbar presentation), weight loss, poor respiratory function, older age and shorter time from first developing symptoms to time of diagnosis.

For symptom control, discuss the available treatment options for muscle problems and take into account the person's needs and preferences, and whether they have any difficulties taking medicine (for example, if they have problems swallowing). Specific medicines are recommended within the guidance but if these treatments are not effective, not tolerated or are contra-indicated, consider referral to a specialist service for the treatment of severe spasticity.

More information and the complete new guideline can be found in our professional reference motor neurone disease article.