George Huntington, On Chorea

Huntington

George Huntington (1850-1916) was a medical practitioner in Dutchess County New York.

His father and grandfather had both been doctors, and his family had lived on Long Island since 1797.

He gave his classic presentation, “On Chorea”, at the Meiga and Mason Academy of Medicine in Middleport Ohio in 1972, and this was subsequently published in the Medical and Surgical Reporter of Philadelphia on April 13, 1872.

This took place just one year after he graduated from his medical training at Columbia University.

He later explained his interest in the condition that now bears his name:

Over 50 years ago, in riding with my father on his rounds, I saw my first case of the “disorder”, which is the way the natives always referred to the dreaded disease.  I recall it as vividly as though it had just occurred but yesterday.  It made a most enduring impression on my boyish mind, an impression which was the very first impulse to my choosing chorea as my virgin contribution to the medical lore.  Driving with my father through a wooded road leading from East Hampton to Amagansett we suddenly came upon two women both bowing, twisting, grimacing.  I stared in wonderment, almost in fear.  What could it mean?  My father paused to speak with them and we passed on.  Then my Gamaliel-like instruction began; my medical instruction had its inception.  From this point on my interest in the disease has never wholly ceased.

Huntington’s disease (HD) is now know to be caused by a genetic mutation.  It is inherited in an autosomal dominant fashion, so that any child of an affected person typically has a 50% chance of inheriting the disease.  The mutation is a triplet repeat, so the genetics of HD lead to anticipation, a phenomenon whereby the disease may begin earlier and more severely in each successive generation.

HD can present at any age, but most often begins around 35-44 years with psychiatric disturbance such as depression or forgetfulness.  Neurological manifestations such as unsteady gait and the  jerky body movements (chorea) noted by George Huntington come later, followed by a progressive dementia.

Genetic testing is available, but pre-symptomatic testing for family members, who are at increased risk for the disease, is controversial since there is no treatment for HD.

Find out more about HD from the Huntington’s Disease Society of America.

Musher Medicine


While I am lucky enough to be spending a few days this week dog sledding in Maine, I got to thinking about the neurology (or at least the medicine) of mushing.

mush

I guess most people have already heard of the famous annual Iditarod dog sled race which has become Alaska’s most popular sporting event.

However, many are unaware of the historical importance of dog sledding, and in particular the 1925  Serum run to Nome  (sometimes referred to as the “Great Race of Mercy”).

In the winter of 1925 there was a diphtheria epidemic in the isolated Alaskan city of Nome.  The city had 8,000 units of diphtheria antitoxin on hand, but it had all expired the previous summer. They had ordered a new supply, but the port had closed for the winter before the serum arrived.  The doctors were afraid to use the expired medicine.  The nearest supply of antitoxin was in Anchorage, but it might as well have been a million miles away, as the only available planes were water cooled WW1 that could not be flown in winter.  A deadly epidemic was expected.

serum

Sepalla in Nome, 1925

However, in a daring plan, the antioxin was moved by train from Anchorage to Nenana, and then carried another 630 miles to Nome by dog sled teams running in relay.   Gunnar Kaasen and his lead dog Balto arrived on Front Street in Nome with the antitoxin on February 2 at 5:30 a.m., just five and a half days later. The two became media celebrities, and a statue of Balto was erected in Central Park in New York City in 1925.  However, most mushers consider Leonhard Seppala and his lead dog Togo to be the true heroes of the run – they covered the most hazardous stretch of the route, and carried the serum 91 miles, the single farthest of any team.


A reenactment of the serum run was held in 1975 to mark the 50th anniversary of the “Great Race of Mercy,” and participants included descendants of many of the original mushers.  Since 1997, the event been commemorated by bi-annual “Serum Run” from Nenana to Nome, which includes stops at villages along the way to promote childhood inoculations.