Desperate for Answers
From diagnosis to daily living, restless leg syndrome is both a mysterious and agonizing disorder
For decades, Jan Tymrak, 60, struggled to find out why she experienced uncomfortable sensations in her legs at night. Only standing or moving them would relieve the discomfort and enable her to eventually fall asleep. Her mother had complained of similar symptoms, but never found the cause.
Tymrak sought many doctors’ advice, only to be told that it was due to her type 2 diabetes and obesity. Prescribed medications didn't help. In 2012, she had a gastric sleeve procedure performed. Although she dropped 60 pounds, the restlessness in her legs significantly worsened, and the diabetes didn't improve.
Desperate to find answers, Tymrak researched on the Internet. From what she could ascertain, her symptoms were a perfect match for restless leg syndrome (RLS), a neurological disorder that affects up to 10 percent of the U.S. population.
While continuing her research, Tymrak discovered William Ondo, MD, professor of neurology at The University of Texas Health Science Center at Houston (UTHealth) Medical School. Ondo is the director of UTHealth’s new Willis-Ekbom Disease (WED)/RLS Foundation Quality Care Clinic, 250 miles north of Tymrak's Alice, Texas, home.
UTHealth is only the third institution in the country to be designated as a WED/RLS Foundation Quality Care Center. This designation was established to highlight centers thought to exceptionally manage patients with RLS, especially more severe patients. In addition to patient care, the center is involved with multiple research projects designed to advance the understanding of RLS.
Tymrak visited Ondo, who confirmed her suspicions. "Dr. Ondo said I had a textbook case of RLS," Tymrak says.
Although there aren't any clinical tests for RLS, the diagnostic process may include a neurological and physical exam and a review of medical and family history. Blood tests may be ordered to check for vitamin and iron deficiencies and other medical disorders that can be linked to RLS. Sometimes a sleep study may be performed to detect possible other causes of disturbed sleep.
Tymrak indeed has many classic signs and symptoms of RLS, including the urge to move her legs due to discomfort. About 80 percent of people with RLS experience this, and walking or other physical activity helps relieve the desire. “Some patients may describe an urge to move their legs, while others describe creepy crawly sensations or tension in the legs," Ondo says. "The intensity of the sensory symptoms and urge to move can range from trivial to completely life-altering.”
While sleeping, people with RLS may experience leg twitching or jerking movements every 15 to 40 seconds. "Sleep deprivation, sometimes quite severe, is one of the main consequences of RLS,” Ondo says.
Tymrak can attest to that. "Some nights I have moved my legs for four hours to relieve the restlessness before finally falling asleep," she says. "I've had nights where I've almost fallen asleep standing up in the kitchen. When my knees buckled, I caught myself on the countertop before hitting the floor."
"The sleep deprivation is awful," Tymrak adds. "It affects my moods, and makes me dread the evenings."
Other triggers of RLS include being inactive for a length of time, such as taking a long drive or flight, or doing relaxation exercises.
In most cases, the cause of RLS is unknown. Family history may play a role, especially when symptoms begin before age 45. In addition to her mother having symptoms, Tymrak says two of her children in their early 30s are showing signs. Ondo says at least six genes have been identified as risk factors.
RLS occurs in both men and women, although women are twice as likely to get it. It can begin at any age, and typically symptoms worsen as a person gets older.
Studies show that low iron levels in the brain also may be responsible for RLS. "This can be the case even if blood tests measuring iron levels are normal," Ondo says. In addition, there may be other subtle brain abnormalities in certain chemicals such as glutamate and dopamine, which cannot be easily assessed.
"No evidence suggests that there is actually anything wrong with the legs themselves," says Ondo, who notes that for some reason the central nervous system doesn't work right in these cases. "The brain doesn't suppress unwanted sensations properly."
Although it is not known for sure, RLS seems to be related to chronic diseases such as diabetes, kidney disease, neuropathy, multiple sclerosis and tremor. However, it is not known if these conditions actually cause RLS. Some medications, including certain antinausea drugs, antipsychotic drugs, antidepressants, some cold and allergy medications, and especially antihistamines may aggravate symptoms. Pregnancy, especially during the third trimester, can cause RLS; however, symptoms usually subside within a month of giving birth. For some, alcohol and lack of sleep trigger symptoms.
Much needed relief
A doctor needs to have a good understanding of the timing and intensity of a patient's symptoms in order to optimize treatment. When treating RLS, getting symptom relief is the goal.
The U.S. Food and Drug Administration has approved four medications for treating RLS. Pramipexole, ropinirole and rotigotine (a patch) are all classified as dopaminergic agents (drugs that increase dopamine, a neurotransmitter that acts within certain brain cells to help regulate movement and emotion). Although these drugs are also used to treat Parkinson's disease, Ondo notes that having RLS does not mean that you may get another neurological disease (such as Parkinson's). In addition to dizziness and nausea, side effects of the medications may include impulsive behaviors such as shopping or gambling. In some cases, taking these medications long-term can cause symptoms to worsen over years.
Gabapentin enacarbil, which metabolizes in the body to become gabapentin, is also approved for RLS. This is an anticonvulsant used to treat moderate-to-severe RLS symptoms. It also can decrease sensory disturbances such as nerve pain as well as creeping and crawling sensations. "Overall, these medicines are initially very effective, but in some cases treatment becomes more difficult over the years," Ondo says. "Sometimes changing the dose even very slightly can make an enormous difference in successful treatment."
When treating an iron deficiency, Sudha S. Tallavajhula, MD, neurologist, UTHealth Medical School, says that it can take two to three months for iron levels to build up (when taking oral supplements). "While patients may need prescription medication during this time, their symptoms should be re-evaluated when iron levels optimize," she says.
Certain lifestyle changes and activities may reduce symptoms in some people. They include decreasing alcohol, taking folate and magnesium supplements, getting regular sleep, moderating exercise, massaging the legs, applying heat or ice to the legs, or taking a hot bath. If sleep doesn't improve with medication, Tallavajhula suggests assessing the patient for another sleep disorder.
An uncertain future
There isn't a cure for RLS, and the outlook for people with RLS varies. "Some conditions can temporarily worsen it, including being iron-deficient or anemic, or taking antihistamine medications (such as Benadryl) or prescription medicines that block dopamine," Ondo says. "Over a lifetime RLS generally worsens, but there are many exceptions. It can eventually affect the arms. Some people experience remission for weeks or months, but it usually does not completely resolve if it has been present for years."
Tallavajhula says the age of onset and whether RLS runs in the family also play a role. Many people are fine when taking medication. "However, symptoms may not just occur in the evening, but advance to earlier times during the day as well — so medications may need to be adjusted accordingly," she says. When RLS occurs in patients with end-stage renal disease on dialysis, renal transplantation produces significant improvement in RLS symptoms.
Tymrak is overjoyed to have found Ondo and his WED/RLS Foundation Quality Care Center, and she now has hope. "It's amazing to have a doctor hear you and validate what you experienced," she says. "They performed lots of tests, were very observant, and listened to me. There are lots of different treatments, and I believe that they won't stop until I find relief."