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Genetic condition causes weakness in people’s legs

Q: A friend, in his 40s, talked about the difficulty his pediatrician had in diagnosing Charcot Marie Tooth Disease (CMT), in his youth.

I understand it is a hereditary condition and symptoms can occur at a very young age. Could you provide more information that might help parents and pediatricians diagnose it earlier than in his case?

A: According to one video about CMT on YouTube (there are more than a dozen), CMT is the “biggest disease no one has ever heard of.” CMT is not rare; among my adult friends are two with this nerve disease that affects their legs and their walking, but certainly not their minds.

Charcot Marie Tooth, named after one British and two French neurologists who described the condition in 1886, is a group of genetic diseases that cause similar symptoms but of different severities: both of my friends happen to be excellent bicyclists despite walking in an unusual way.

Both of my friends have weakness of the muscles of the lower legs and feet, resulting in a “foot drop,” where the front of the foot falls with each step. Because of the weakness and loss of muscle mass, their legs look very slim at the bottom; they have often been described as “stork legs” or “legs like inverted champagne bottles.”

Many CMT patients fall a lot and have repeated sprains of the ankles. They may have numbness of the feet, hammer toes (the middle of the toes stick up) or very high-arched feet. The disease may also affect the arms or the back or both.

CMT is a genetic disorder – in many cases, the genes are passed on from one family member to another. I would guess that your friend did not have an older family member with the same disease, since that should have made it more obvious to his doctor. Given a history of falling a lot (which can be common anyway in young children) or frequent ankle sprains, a careful physical examination might have discovered the disease at an early stage.

Given typical symptoms and/or the high-arched feet (cavus feet) or decreased muscle mass in the lower leg (the champagne-bottle neck), tests of how fast impulses travel down the nerves of the leg, a biopsy of those nerves, or genetic testing will establish the diagnosis and usually determine what kind of advice on recurrence risk can be given.

Unfortunately, even with early diagnosis, there is no specific therapy for the disease, no matter its severity, which varies. Physical therapy helps with accommodation to the condition and may help to strengthen the less-affected muscles, but medication is generally not useful.

As with so many uncommon diseases, there is often a great benefit to those with CMT and their families to be able to talk with other affected families. That is true of CMT as well – the CMT Association has branches throughout the country, including one in Albuquerque. Branch leader Gary Shepherd (gary@shepdesignassoc.com) leads quarterly meetings here, offering support and information abut ways to make life easier for those affected by CMT, who are often stigmatized for their abnormal ways of moving.

Mr. Shepherd notes that 1 in 2,500 people in the U.S. have Charcot Marie Tooth disease (or about 125,000 throughout the country). He said that a drug may soon be available to treat the most common form of CMT, which would up the ante in making the diagnosis early so it could be treated before it became severe.

More on allergies

Several weeks ago, I wrote about the treatment of hayfever, or allergic rhinitis. I made an error, which was pointed out by reader Balire Hannon: I mismatched a generic and a brand name. The correct pairings for these useful nasal steroid sprays are triamcinolone (Nasocort) and mometasone (Nasonex), as well as fluticasone (Flonase) and others.

Another reader pointed out that the neti pot is useful in treatment of allergies. Though I had heard of its use from many patients, I wanted to find out what the studies showed. German researchers in 2012 published a summary of studies to help me out, showing that users of nasal saline (salt water) irrigation, including the neti pot, and including children, had a 26% improvement in an allergy symptom score and a 62% decrease in medication use. For a $10-$20 one-time investment, that sounds like a bargain to me.

A local pharmacist wrote that she “has been finding very good results with a supplement called Natural D-Hist.” A “natural product” containing quercetin, bromelain, stinging nettle powder, n-acetyl cysteine and vitamin C, it is promoted as not causing drowsiness as some more mainstream allergy medicines do in some people.

Among 83 scientific articles I found mentioning quercetin, Irish researchers Finn and Walsh concluded in a dense review that “the number of anti-allergic agents is not limited to these drugs in clinical use. It is evident from the numerous reports outlined in this review that a broad range of compounds [including quercetin] have been isolated from natural sources that demonstrate substantial anti-allergic activity.”

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