On a sunny day in August 1996, Frank Filia and his girlfriend went for a long bike ride. When they returned home, he noticed tingling in his hands. At first he assumed he needed to adjust his bicycle—raise or lower the seat, tilt the handlebars—but when the tingling persisted, he made an appointment with his doctor. After taking X-rays, the doctor told Filia he needed to see a neurologist. He was referred for various tests by his neurologist and was diagnosed with relapsing-remitting multiple sclerosis (MS).
Filia was prescribed a disease-modifying therapy, but not long after the diagnosis he began having weakness in his feet and legs. One foot would catch on a curb or a tuft in the carpet. Sometimes his legs wouldn't do what he wanted them to do, and he would feel off balance. “I had to grab on to things when I was walking or put my hand on the wall to stabilize myself,” says Filia, who is now 57 and lives in Marlton, NJ. “I didn't have any pain, just stiffness; then my legs started spasming.”
As those symptoms worsened, Filia developed a limp. He needed one cane, and then two. Now he uses a scooter to get around. He takes two muscle relaxants to control the spasms and stopped going to physical therapy because he found it too taxing. “It was humbling,” he says. “I was doing simple things such as a sit-up and it was tough to do. Easy things I had done all my life suddenly became hard.”
Limb spasticity like Filia developed is typically caused by damage to the nerve pathways in the brain or spinal cord that control movement, which disrupts messages between the brain, spinal cord, nerves, and muscles. This can result in an abnormal increase in muscle tone or stiffness that can interfere with movement and speech and cause pain or discomfort. In people with MS, the lesions that develop in the brain and spinal cord can cause spasticity in the legs, says Aliza Ben-Zacharia, PhD, FAAN, an MS specialist in private practice in New York City. The condition is more common with primary or secondary progressive MS, but it can occur in the relapsing-remitting form, she says. “Sometimes it's more stiffness and rigidity than spasms. Patients can't really relax their legs, which feel like two sticks.” (Relapsing-remitting MS involves an onset or exacerbation of neurologic symptoms between periods of partial or complete recovery. Secondary progressive MS follows an initial relapsing-remitting diagnosis; then symptoms worsen over time. Primary progressive MS is characterized by worsening neurologic function without periods of recovery.)
While not life-threatening, spasticity can be painful and disabling and make simple tasks like getting dressed, brushing hair, preparing food, and even walking difficult, says Marc P. DiFazio, MD, a neurologist at Children's National Hospital in Washington, DC. Muscles become stiff and flexed and may spasm and be hard to control. In addition to MS, disorders such as spinal cord injury, stroke, cerebral palsy, traumatic brain injury, and dystonia can lead to spasticity.
To diagnose spasticity, doctors perform a complete physical examination, including detailed neurologic testing. They also may order MRI scans to look for any underlying disorder that may cause spasticity.
“Patients don't come to see me only because of spasticity,” says Jeffrey A. Samuels, MD, FAAN, a neurologist in Pompano Beach, FL. “It's usually a condition of the disease they have. Many disorders, such as tremors, infections, and vascular strokes, can affect areas of the brain associated with motor control and tone.”
Normally, nerves send electrical signals to muscles, telling them when to tense and relax. In spastic limbs, these signals are overactive, and muscles tense up or move involuntarily, says Bhooma Aravamuthan, MD, DPhil, assistant professor of neurology at the Washington University School of Medicine and a specialist at the Cerebral Palsy Center of St. Louis Children's Hospital. “The signals that put the brakes on your muscles, telling them not to contract, are taken off and the muscles are go, go, go,” says Dr. Aravamuthan. Severity of the condition is measured by how tight a muscle is and how much of the body is involved, she says—for example, patients might have severe spasticity on one side of the body and none on the other, or they might have mild spasticity on both sides.
Available Therapies
Before starting treatment, Dr. Aravamuthan talks to her patients about how spasticity is affecting them day to day. “We want to make sure that what we're prescribing is going to improve their lives,” she says. The first option is almost always physical and/or occupational therapy. “This is especially important to prevent muscles getting stuck,” she notes. “Orthotics or braces might also help keep limbs in the right position.”
During physical and occupational therapy, patients stretch and do range-of-motion exercises to reduce and stabilize symptoms and improve functional abilities. Acupuncture also may help: A pilot study of 59 stroke patients published in European Neurology in 2019 suggested that acupuncture can improve movement and decrease spasticity.
For most patients, physical and occupational therapy and regular stretching exercises are sufficient. But for those who need more, Dr. Ben-Zacharia might suggest oral medications such as the muscle relaxants baclofen (Lioresa), tizanidine (Zanaflex), and dantrium hydrochloride (Dantrolene), and less often the sedative diazepam (Valium), which can temporarily relax muscle tone. But all can be associated with side effects, including dizziness, drowsiness, headaches, nausea, and weakness. Tizanidine can cause liver and kidney disease and low blood pressure. Dantrium hydrochloride can damage the liver. Patients taking diazepam may develop a tolerance and require higher doses or become dependent. A baclofen pump is another treatment. It delivers small amounts of the drug directly into the cerebrospinal fluid and can be dosed precisely.
Injections of botulinum toxin (Botox and Dysport) are another option. In a 2016 update of its guideline on the drug, an American Academy of Neurology subcommittee reviewed the research on its use for spasticity and three other conditions—headache, cervical dystonia, and blepharospasm. “Numerous studies of different formulations of botulinum toxins for adult spasticity have resulted in an upgrading of our recommendations for the individual toxins,” says lead author David M. Simpson, MD, FAAN, professor of neurology at the Icahn School of Medicine at Mount Sinai. “Three formulations are now considered effective in reducing excess muscle tone and are recommended for treating upper limb (arm and hand) spasticity. For lower limb (leg and foot) spasticity, studies show that both Botox and Dysport are effective.”
For Teresa Catlin, who was diagnosed with dystonia almost 15 years ago, Botox injections have made a difference. “It really keeps my muscles from fighting each other so much,” says the 53-year-old grandmother from Crosby, MN. The effect lasts about two months. “I can feel the pain increasing, the tightness coming back, and my body wanting to fold over.” To manage the pain, she takes painkillers and uses a baclofen pump. “I'm trying to find a remedy that allows me to take less pain medication,” Catlin says.
“Botox can jump-start physical therapy and help patients who have trouble stretching a particular muscle,” says Dr. Aravamuthan. “But I try to limit it, because we're still learning about the effects of repeated, long-term use.”
Elouise Levoir-Sloan, 16, gets quarterly injections of Botox to relax her muscles and ease persistent pain. She has hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), a rare genetic disorder that damages the nervous system and affects parts of the brain that control movement. As the effectiveness of Botox has decreased over time, Levoir-Sloan, who lives in Silver Spring, MD, supplements the injections with baclofen and uses CBD oil to massage her muscles.
“We get asked about CBD all the time,” says Dr. Aravamuthan. “I tell my patients that we don't have data to support it in that context, but I'm comfortable with them using anything that isn't harmful or prohibitively expensive—as long as they keep me in the loop so I can track side effects and drug interactions.”
Surgical Options
In some cases of spasticity, more invasive procedures are warranted to treat either spasticity or co-occuring problems like dystonia. Carter Blackman underwent deep brain stimulation (DBS) to control movement problems caused by H-ABC. Last fall the 14-year-old from Murrietta, CA, had electrodes implanted into his brain, which generate electrical impulses that control abnormal brain activity. The stimulation, controlled by a programmable generator placed under the skin in his upper chest, led to improvement in several areas.
“Before the surgery, Carter couldn't touch his face with his hand,” says his father, Robert. “Now he can hug us.”
A procedure that's been used to relieve spinal spasticity is epidural spinal cord stimulation (SCS). Now considered a breakthrough procedure for enabling movement after a spinal cord injury, it is effective for controlling and improving stiff or rigid muscles, says Dr. DiFazio. During SCS, electrodes are placed in the space outside the dura (the outer layer of tissue that covers and protects the brain and spinal cord) and connected to a small pulse generator under the skin. A study published in the Journal of Neurotrauma in 2020 found that spasms were significantly reduced immediately after SCS, and all spasticity measures were improved two hours post-intervention. The stimulation also was effective as a home-based therapy.
For young children with cerebral palsy, a procedure called selective dorsal rhizotomy (SDR) can reduce spasticity, says Dr. Aravamuthan. “It is typically used in children who have good strength in their legs already. SDR can help them be independent walkers.” But even in children with severe spasticity, it can improve their quality of life. “Dressing a child with spasticity can be difficult,” Dr. Aravamuthan says. “SDR can help decrease leg spasticity so it's easier to physically separate their legs.”
During the operation, surgeons cut a percentage of sensory nerve fibers near the spine to improve movement and muscle control. In appropriate patients, the surgery can eliminate spasticity and allow for significant improvements in functional mobility, says Micah Baird, MD, medical director of rehabilitation at Akron Children's Hospital in Ohio. To determine eligibility for the procedure, a comprehensive assessment of spasticity, strength, and movement control is performed, typically by a team that includes physical and occupational therapists as well as specialists in neurosurgery and physical medicine and rehabilitation. “Identifying the appropriate patient is critical,” says Dr. Baird. “If a child does not have sufficient strength to stand or walk, removing spasticity could result in functional loss.” The surgery is followed by a period of intensive rehabilitation to normalize movement and gait patterns and optimize independence in the absence of spasticity.
SDR followed by intense physical therapy helped Madison Harrison. The 16-year-old from Green, OH, has cerebral palsy and limb spasticity. SDR improved her flexibility, balance, and motor development and helped her walk. “Physical therapy is lifelong for Madison,” says her mother, Jenessa.
For Natalie Strongoli of Cuyahoga Falls, OH, a stroke she had five years ago when she was 14 caused spasticity in her left leg and arm. She gets Botox injections every six months to improve tone and decrease muscle rigidity, which makes her fingers and toes curl up tight; she still can't use her left hand, although she can lift her left arm.
During her weekly physical therapy, Strongoli runs on the treadmill, does plank exercises, and stretches and strengthens her feet and legs. In her occupational therapy sessions, she focuses on her left arm and hand. “I still have to wear a brace on my left foot because I have drop foot on that side,” she says. She also had droopiness on the left side of her face. “At first I couldn't smile, but that's better now.”
When Strongoli was hospitalized with the stroke, the doctors determined that the brain bleed in her right frontal lobe was caused by moyamoya disease, a rare progressive disorder that causes narrowing and eventual blockage of the internal carotid artery as it branches in the brain. Now she undergoes an annual MRI to check the blood vessel supply and determine progression.
She has made tremendous strides—graduating from high school, getting her driver's license, and enrolling in a local college. And she looks forward, not back with regret. “I have always been and try to be very positive,” Strongoli says. “I can't change the fact that this happened, but I don't dwell on it. I'm just happy I'm here.”
This story was updated on October 28, 2021.
