What Is Schwartz Jampel Syndrome — And Just How Rare Is It?

posted: 04/07/16
by: TLCme

Boy's Best Friend

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Haatchi, Owen's 3 legged dog, has helped Owen gained self esteem and confidence, and has stopped him from being bullied.

On TLC's "Two in a Million," you'll watch two people dealing with rare, and sometimes isolating, diseases meet for the first time. In the emotional first episode, you get to know Giovanni and Owen, two young boys with Schwartz Jampel Syndrome. Though you learn a little about it during the show, you may have some questions about the rare disease, which we answer below:

What is Schwartz Jampel?

It's a genetic disorder that causes abnormalities in muscles and bone development that can affect growth. There are two types: SJS type 1, which is typically diagnosed in late infancy, and SJS type 2, which is usually recognized at birth.

What causes it?

Schwartz Jampel is a genetic disorder that occurs when the same abnormal gene is passed from each parent. If both parents pass along the defective gene, the chance that a child will be affected is 25 percent. SJS type 2 appears to be most common in individuals of United Arab Emirates descent.

What are the symptoms?

Symptoms vary from case to case, but the disease restricts bones from growing normally and muscles from developing properly. Patients may suffer from stiffness and muscles that are unable to relax. As you saw on the show, it's why Giovanni and Owen appear like mini body builders. Joints may be permanently bent or extended, and common movements like crawling, sitting, and walking are often difficult.

How rare is it?

There have approximately 85 cases reported.

Is there a treatment?

Though there's no cure, there are medications that can help relax muscles and surgeries to help ease discomfort.

If you'd like to learn more about Schwartz Jampel or other rare diseases, the Genetic and Rare Diseases Information Center can help. You can visit their website, call their toll-free number 888-205-2311, or contact them through this form.