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A Spotlight on Schwartz-Jampel Syndrome

February 25, 2020

In advance and support of Rare Disease Day taking place this Saturday, February 29, we will continue featuring rare diseases throughout the week to bring awareness to these uncommon, yet impactful illnesses.

Schwartz-Jampel Syndrome (SJS) is a rare genetic disorder that affects bone and muscle development. This disease is characterized by muscle stiffness and weakness; joint deformities; short stature; and small ‘fixed’ facial features with eye abnormalities. In its initial stages of diagnosis, SJS was divided into two categories known as type 1 and type 2. Type 2 is referred to as neonatal SJS and is now being considered as a more distinct and severe condition known as Stuve-Widemann syndrome. SJS has been further sub-categorized into type 1A and 1B divisions, delineated by the disorder’s severity and age of onset. Type 1A, considered to be classic SJS, is the most common. Those affected with type 1A develop a milder set of symptoms later in childhood, while individuals with type 1B display symptoms that are more severe and apparent upon birth.

The cause of SJS is due to mutations in the HSPG2 gene, and the disorder is recognized to be inherited in an autosomal manner with ongoing debates about dominant vs. recessive inheritance patterns. Treatment for type 1A and 1B Schwartz Jampel Syndrome includes maintenance and normalization of muscle activity through various therapeutic techniques such as massage and stretching, as well as medications.  Some instances require surgery. Most individuals with SJS have a long-term prognosis with a normal life expectancy.

Cases of Schwartz Jampel Syndrome vary person to person and the disease’s manifestations can be treated and managed through several different methods. Meet Owen Howkins and Haatchi.

Owen suffers from Schwartz-Jampel Syndrome, and due to his conditions’ physical limitations, Owen dealt with more than one type of pain because of his differences. Owen ultimately lived in fear and was afraid to leave his own home, until Haatchi came into his life. Not foreign to his own struggles with trials and adversity, Haatchi is a 3-legged Anatolian Shepherd who was rescued from the streets of London. The two have overcome tremendous challenges in their lives, and are stronger together, connected by a bond built from unconditional love, support, and true friendship. Watch Owen and Haatchi’s heart-warming story below.