Maliylah Silva

UCSF Diagnoses Toddler with Musclar Dystrophy

Abby Sinnott

Dr. Jonathan Strober, director of UCSF Benioff Children's Hospital's Pediatric Muscular Dystrophy Association Clinic should be flattered: his three-year-old patient Maliylah Silva named one of her favorite stuffed animals after him.

"He's just amazing," says Maliylah's grandmother, Clarissa Silva, who resides outside of Las Vegas, NV. "From the time we parked our car at UCSF to the time we left, everyone was so helpful and willing to lend a hand, no matter what you needed. We were in awe; it was just the most refreshing place."

When Maliylah was a small baby, Silva noticed that she wasn't kicking her legs like most babies her age, even though in utero she had been a very active baby. By the time she was one-year-old, Maliylah wasn't crawling or putting weight on her legs, which Silva compares to "spaghetti."

Silva sought the advice of her local pediatric neurologist, who performed a number of tests on Maliylah, but still couldn't come up with a conclusive diagnosis. Desperate for an answer, Silva conducted her own extensive research and contacted Strober at the UCSF Pediatric Muscular Dystrophy Association Clinic.

"I sent the center an email with results from all testing that had been done, and received a response from Dr. Strober the next day. I was very impressed with that," Silva remembers. "He offered to do a phone consultation and based on my email and Maliylah's symptoms and test results, he said he thought she might have spinal muscular atrophy, but would have to confirm it in person."

So Silva, Maliylah and Maliylah's mother, Ashley, hopped on a plane and headed for San Francisco. After Strober conducted a thorough physical exam and numerous tests on Maliylah, including a blood test to look for genetic markers that indicate spinal muscular atrophy, he confirmed Maliylah's diagnosis of type II infantile spinal muscular atrophy (SMA).

"I really feel that if I hadn't done my own research and contacted Dr. Strober, Maliylah wouldn't have gotten an accurate diagnosis as soon as we did and she would have deteriorated and lost more than she already had," says Silva.

SMA is a group of genetic diseases that affects the part of the nervous system that controls voluntary muscle movements, such as crawling, walking, head and neck control and swallowing. The disease causes weakness and wasting of the voluntary muscles.

Most nerve cells that control muscles, called motor neurons, are located in the spinal cord. Motor neurons send electrical messages to the muscles. Children with SMA have fewer motor neurons so not enough signals are sent to the muscle cells. As a result, the muscles do not function properly and deteriorate.

SMA occurs in an estimated one in every 6,000 births. Childhood SMA is an autosomal recessive disease, meaning children inherit a gene from both their mother and father, although parents usually do not have symptoms. An estimated one in 40 "normal" people are carriers of the SMA gene. If both a man and woman carry the gene, their child has a 25 percent chance of developing the condition.

Maliylah has what is known as infantile SMA type II. Children with this form of the disease may sit independently, but are never able to walk or stand on their own. Other symptoms may include respiratory problems, hypotonia or diminished muscle tone, decreased or absent deep tendon reflexes and involuntary contractions or twitching of groups of muscles called fasciculations. Some children need a wheelchair and develop curvature of the spine called scoliosis and other orthopedic problems.

"One thing that makes kids with SMA stand out is how intelligent they are and Maliylah is no exception," says Strober. "It still amazes me that I can hold a full conversation with a three-year-old like Maliylah. What they are lacking in strength, they definitely make up for in brain power."

After confirming Maliylah's diagnosis, Strober developed a treatment plan for Maliylah that included physical therapy three times a week, medication and occupational therapy that involves horse riding. Even still, Silva noticed that her granddaughter was"going downhill fast."

"Isaw that she wasn't able to hold her head up when she was on her stomach or roll over, so I contacted Dr. Strober," says Silva, who has her own stethoscope to listen to Maliylah's heart and lungs, and administers lung therapy to her granddaughter on a daily basis.

Strober incorporated a drug called albuterol into Maliylah's therapy of Depakote and Carnitine, which has seemingly been effective in slowing the progression of SMA. "Most kids Maliylah's age with SMA have been hospitalized, but Maliylah has never been in the hospital —knock on wood —and I hope it stays this way," says Silva.

And although the prognosis for children with SMA is that they will never have full function of their legs, Silva remains optimistic. "She is a very, very bright little girl and I believe that she can overcome anything," Silva says.

Story written in September 2009.

Abby Sinnott is a freelance writer in London.

Related Information

UCSF Clinics & Centers

Pediatric Brain Center

Neuromuscular Clinic
1825 Fourth St., Sixth Floor
San Francisco, CA 94158
Phone: (415) 353-7596
Fax: (415) 353-2400